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Gene: Tbx1 MGI:98493

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Gene Summary

Name:
T-box 1
Synonyms:
nmf219

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Tbx1em1(IMPC)Mbp HET Early adult 6.66×10-05
microphthalmia Tbx1em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Tbx1em1(IMPC)Mbp HOM E15.5 0.00
anophthalmia Tbx1em1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Tbx1em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Tbx1em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Tbx1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal skin morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Tbx1em1(IMPC)Mbp HET E15.5 0.00
abnormal pancreas morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00
edema Tbx1em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Tbx1em1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Tbx1em1(IMPC)Mbp HET Early adult 4.21×10-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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Gross Morphology Embryo E14.5-E15.5

Images

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Tbx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Tbx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Low-set ears, Cleft upper lip, Micrognath... OMIM:231060
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Branchiootic Syndrome 1
Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,... OMIM:602588
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Bor Syndrome
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, A... ORPHA:107
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Isotretinoin Embryopathy-Like Syndrome
Microtia, Micrognathia, Cleft palate, Anotia, Conotruncal defect OMIM:243440
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Abnormal cardiac ventricle ... ORPHA:2306
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aort... OMIM:192430
Fetal Akinesia Deformation Sequence 4
Retrognathia, Broad neck, Polyhydramnios, 11 pairs of ribs, High palate, Low-set ears, Kyphosis, ... OMIM:618393
Skraban-Deardorff Syndrome
Absent cupid's bow, Recurrent otitis media, Widely spaced teeth, Right aortic arch, Thick upper l... OMIM:617616
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Gingival fibromatosis, Gingival overgrowth, Delayed cranial suture closure, Low-set... ORPHA:1832
Microphthalmia/Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent otitis media, Dextrocardia OMIM:618254
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Kyphosis, T lymphocytopenia,... OMIM:618223
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Verheij Syndrome
Optic nerve hypoplasia, Truncus arteriosus, Cleft palate, Long philtrum, Short neck, Ventricular ... OMIM:615583
Toriello-Carey Syndrome
Abnormal palate morphology, Aganglionic megacolon, Anteriorly placed anus, Wide anterior fontanel... ORPHA:3338
Double Outlet Right Ventricle
Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Aplasia/Hypoplasi... ORPHA:3426
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, High palate, Hearing impairment, Tetralogy of Fallot, Wide mouth, Opti... OMIM:613398
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
You-Hoover-Fong Syndrome
Kyphoscoliosis, Double aortic arch, Hearing impairment, Coarctation of aorta, Vascular ring, Clef... OMIM:616954
Emanuel Syndrome
Dental crowding, Kyphosis, Intestinal malrotation, Pulmonic stenosis, Aortic valve stenosis, Recu... OMIM:609029
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Scoliosis, Low-set ears, High palate, Kyphosis, Respiratory failure, Micrognathia, ... OMIM:611890
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Webbed neck, Hydranencephaly OMIM:601355
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Micrognathia, Cleft palate, Sho... ORPHA:2015
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate, Smooth philtrum, Thin upper lip vermilion OMIM:611867
Microtia With Meatal Atresia And Conductive Deafness
Microtia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Anotia OMIM:251800
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Marcus-Gunn Syndrome
Abnormal ear morphology, Abnormal heart morphology, Cleft palate, Abnormal fifth cranial nerve mo... ORPHA:91412
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Microtia, Tracheoesophageal fistula, Hearing impairment, Atresia ... ORPHA:268249
Emanuel Syndrome
Kyphoscoliosis, Redundant neck skin, Breech presentation, Dental crowding, Severe hearing impairm... ORPHA:96170
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Thyroid hypoplasia, Bifid uvula, Broad philtrum, Aplasia of t... OMIM:620186
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Profound sensorineural hearing impairment, Sensory axonal neuropathy, Absent internal auditory ca... OMIM:620469
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Anomalous origin of left coronary artery from the pulmonary artery, Vertebral segm... OMIM:618845
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Conductive hearing impairm... OMIM:184460
Galactosialidosis
Abnormal vertebral morphology, Cherry red spot of the macula, Abnormality of the vertebral column ORPHA:351
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Osteochondrosis, Abnormal vertebral morphology, Low-set ears, Congenital hypothyr... ORPHA:96183
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Kyphosis, Flexion contracture, Short neck OMIM:168400
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Schwannomatosis 1
Peripheral schwannoma, Vestibular schwannoma OMIM:162091
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Dermal sinus tract, Microtia, second degree, Submucous cleft pa... OMIM:620444
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Truncus arteriosus, Abnormal aortic morphology, Short distal ph... ORPHA:2516
Treacher Collins Syndrome 2
Retrognathia, Microtia, Fusion of middle ear ossicles, Conductive hearing impairment, Micrognathi... OMIM:613717
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Supernumerary tooth, Widely spaced teeth, Conical tooth, Abnormal cranial nerve morphology, Senso... ORPHA:90024
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Low-set ears, ... OMIM:617478
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Scoliosis, Gingival overgrowth, Low-set ears, Abnormality of the denti... OMIM:179613
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, Pulmonary art... ORPHA:401935
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Oral ulcer, Eosinophilia, Lymph node hypoplasia, Spleno... OMIM:602450
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Otofaciocervical Syndrome 1
Mixed hearing impairment, Hypoplasia of the cochlea, Conductive hearing impairment, Long neck, Cu... OMIM:166780
Childhood Disintegrative Disorder
Abnormal emotion, Mental deterioration, Progressive language deterioration, Reduced social recipr... ORPHA:168782
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Monosomy 22
Retrognathia, Thin vermilion border, Hypochromic microcytic anemia, Low-set, posteriorly rotated ... ORPHA:96123
Mullegama-Klein-Martinez Syndrome
Absent stapes, Sensorineural hearing impairment, Microtia, Scoliosis, Low-set ears, Facial palsy,... OMIM:301022
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Decreased hip abductio... OMIM:609223
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Thin vermilion border, Death in childhood, Polyhydramnios, Low-set ears, Narrow mouth, Death in i... OMIM:618766
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Phaver Syndrome
Hypoplastic aortic arch, Aplasia/Hypoplasia of the earlobes, Pulmonary artery atresia, Low-set ea... ORPHA:2876
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Hemivertebrae, Low-set ears, Vertebral clefting, Intestinal malrotation, V... OMIM:614701
Syngnathia
Cleft palate OMIM:119550
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormality of the ankle, Abnorma... ORPHA:163665
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Stiff neck, Vertebral wedging, Joint stiffness, Plat... OMIM:616583
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Lethal Congenital Contracture Syndrome 10
Narrow palate, Stiff neck, Hydrops fetalis, Torticollis, Cardiomegaly, Fetal akinesia sequence, H... OMIM:617022
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Low-set ears, Coarctatio... OMIM:615502
Trisomy 4P
Abnormal palate morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Sco... ORPHA:1738
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Long philtrum, Decreased response to growth hormone stimulation test, Retrog... OMIM:300845
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Smooth tongue, Strawberry tongue, Abnormal fifth ... ORPHA:353253
Arthrogryposis, Distal, Type 1C
Retrognathia, Thin vermilion border, Scoliosis, Elbow flexion contracture, High palate, Narrow mo... OMIM:619110
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Ascites, Unilateral cleft lip, Cardiomegaly, Wormian bones, Intrauterine growth retar... OMIM:616897
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Stiff neck,... ORPHA:268882
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Aggressive behavior, Excessive shyness OMIM:618221
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Stenosis of the external auditory canal, Atresia of the external auditory canal, Conductive heari... OMIM:608257
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Protruding ear, Recurrent otitis media, High palate, Pulmonic stenosis, Macrotia, Micrognathia, T... ORPHA:3304
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
X-Linked Mandibulofacial Dysostosis
Protruding ear, Low-set, posteriorly rotated ears, Webbed neck, Branchial anomaly, Sensorineural ... ORPHA:1131
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Ear-Patella-Short Stature Syndrome
Retrognathia, Bifid uvula, Craniosynostosis, Microtia, third degree, Hearing impairment, Atresia ... ORPHA:2554
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hemivertebrae, Adrenal hypoplasia, Low-set... OMIM:220210
Trisomy 13
High, narrow palate, Hydrops fetalis, Abnormal antihelix morphology, Sensorineural hearing impair... ORPHA:3378
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... ORPHA:2777
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Torticollis, Scoliosis, Low-set ears, Hypoplasi... ORPHA:251061
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul... OMIM:617877
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Encephalocele, Pterygium, Respiratory insufficiency, Mi... ORPHA:1865
Tick-Borne Encephalitis
Stiff neck, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphology, Vertig... ORPHA:297
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
Glossopharyngeal Neuralgia
Abnormal palate morphology, Vascular dilatation, Abnormal glossopharyngeal nerve morphology, Ear ... ORPHA:221098
Acrocardiofacial Syndrome
Joint dislocation, Truncus arteriosus, Low-set ears, Anal atresia, Cryptorchidism, Death in infan... ORPHA:2008
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Intervertebral space narrowing, Scoli... OMIM:271530
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Monosomy 5P
Low-set, posteriorly rotated ears, Scoliosis, High palate, Microretrognathia, Intrauterine growth... ORPHA:281
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Scoliosis, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1727
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Short ribs, Micromeli... OMIM:215045
Lower Limb Malformation-Hypospadias Syndrome
Sacral dimple, Low-set, posteriorly rotated ears, Respiratory insufficiency, Macrotia, Premature ... ORPHA:2487
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Low-set ears, Abnormal optic disc morphology, Hearing impairment, Patent duct... OMIM:617516
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Subglottic stenosis, Partial anomalous pulmonary venous return, Solitary me... OMIM:619657
Noonan Syndrome
Thick lower lip vermilion, Low-set, posteriorly rotated ears, Webbed neck, Sensorineural hearing ... ORPHA:648
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cryptorchidism, Cleft palate, Tooth agenesis ORPHA:1074
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Abnormal heart morphology, Bifid uvula, Bicuspid ao... ORPHA:453499
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Hypoplastic left atrium, Tr... OMIM:601186
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Joint contracture, Kyphosis, Ankle clonus OMIM:611225
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Treacher Collins Syndrome 1
Cleft soft palate, Microtia, Narrow mouth, Atresia of the external auditory canal, Conductive hea... OMIM:154500
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Dental crowding, Mandibular prognathia, Sensorineural hearing impairme... ORPHA:435938
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Delayed skeletal maturation, Genu valgum, Genu varum OMIM:608361
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Abnormal oral cavity morphology, Short philtrum, Patent ductus arteriosus, Cranios... ORPHA:1516
Sandestig-Stefanova Syndrome
Orofacial cleft, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Un... OMIM:618804
Treacher-Collins Syndrome
Retrognathia, Microtia, Glossoptosis, Thyroid hypoplasia, Tracheoesophageal fistula, Tooth agenes... ORPHA:861
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal lower lip morphology, Vertebral segmentation defect, Abnormal aortic morphology, Abnorma... ORPHA:1166
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Webbed neck, Scoliosis, Antecubital pterygium, Flexi... OMIM:618469
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Limitation of neck motion, Widening of cervical spinal canal,... OMIM:606842
Catel-Manzke Syndrome
Chronic otitis media, Low-set, posteriorly rotated ears, Scoliosis, Glossoptosis, Oral synechia, ... ORPHA:1388
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery, Accelerated skeletal maturation, Kyphosis, Abnormal form of ... ORPHA:1354
Schizophrenia 15
Hyperactivity OMIM:613950
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextr... OMIM:608978
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Alpha-Mannosidosis
Narrow palate, Chronic otitis media, Widely spaced teeth, Craniofacial hyperostosis, Arthritis, G... ORPHA:61
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Short philtrum, Low-set ears, Everted lower lip vermilion, Cleft palate, Po... OMIM:616898
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Low-set ears, Cleft upper lip, Coarctation of aorta, Se... OMIM:600987
Fibrochondrogenesis 1
Abnormal pinna morphology, Short ribs, Long philtrum, Fibular hypoplasia, Hydrops fetalis, Rhizom... OMIM:228520
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Mosaic Trisomy 9
Intestinal malrotation, Intrauterine growth retardation, Oligohydramnios, Hip dislocation, Single... ORPHA:99776
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Widely spaced teeth, High palate, Low-set ears, Pulmoni... OMIM:618205
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Microtia, Ectopic anus, High palate, Camptodactyly of finger, ... ORPHA:1703
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Coarctation of t... ORPHA:1457
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
Bilateral Polymicrogyria
Abnormal glossopharyngeal nerve morphology, Sensorineural hearing impairment, Facial diplegia, Lo... ORPHA:268940
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Broad neck, Spina bifida occulta, Aplasia of posterior comm... OMIM:613686
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Abnormal vestibular function, Tetralogy of Fallot, Ventricular ... OMIM:617992
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Microtia, High palate, Hypoplasia of the thymus, Median cleft pala... ORPHA:40366
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect, High palate, Cleft palate OMIM:615731
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft of the upper lip, Microtia, Low-set ears, Atresia of the external auditory cana... ORPHA:3429
Pierpont Syndrome
Thin vermilion border, Short finger, Widely spaced teeth, Long upper lip, Scoliosis, Everted lowe... ORPHA:487825
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal aortic arch morphology, Hypoplastic aortic arch, Interrupted aortic arch, Levotransposit... ORPHA:860
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Polyhydramnios, Breech presentation, H... OMIM:600972
Distal 22Q11.2 Microdeletion Syndrome
Abnormal earlobe morphology, Sensorineural hearing impairment, Hyperlordosis, Premature birth, Sh... ORPHA:261330
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Webbed neck, Abnormality of the vertebral column, Congenital mus... ORPHA:2345
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long philtrum, Parachute mitral valve, Short philtrum, Scoliosis, Patent foramen ovale, Pulmonary... OMIM:618316
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Distal Deletion 10P
Hearing abnormality, Low-set, posteriorly rotated ears, Webbed neck, Abnormality of the elbow, No... ORPHA:1580
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Short neck, High palate OMIM:618951
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Tracheoesophageal fistula, ... OMIM:214800
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Exaggerated cupid's bow, High palate, Everted lower lip vermil... ORPHA:261120
Weiss-Kruszka Syndrome
Protruding ear, Microtia, Low-set ears, Hearing impairment, Horizontal crus of helix, Dextrotrans... OMIM:618619
Apert Syndrome
Narrow palate, Ovarian neoplasm, Esophageal atresia, Delayed eruption of teeth, Respiratory insuf... ORPHA:87
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Reduced social reciprocity, Motor stereot... OMIM:608636
Craniofacial Microsomia 1
Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Wide mouth, Scoliosis, Hemiver... OMIM:164210
Chromosome 9P Deletion Syndrome
Narrow palate, Thin vermilion border, Perimembranous ventricular septal defect, High, narrow pala... OMIM:158170
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... OMIM:609425
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Anomalous origin of left coronary artery from the pulmonary artery, Right aortic... ORPHA:2326
Diabetic Embryopathy
Transposition of the great arteries, Low-set, posteriorly rotated ears, Microtia, Abnormal aortic... ORPHA:1926
Omphalocele Syndrome, Shprintzen-Goldberg Type
Laryngeal hypoplasia, Hypoplasia of the pharynx, Webbed neck, Anteroposteriorly shortened larynx ORPHA:3164
Achondrogenesis
Hydrops fetalis, Polyhydramnios, Thickened nuchal skin fold, Micromelia, Micrognathia, Cystic hyg... ORPHA:932
Cofs Syndrome
Sensorineural hearing impairment, Everted lower lip vermilion, Prominent metopic ridge, Death in ... ORPHA:1466
Epiphyseal Dysplasia, Multiple, 7
Vertebral wedging, Flat acetabular roof, Platyspondyly, Advanced ossification of carpal bones, Ge... OMIM:617719
Primary Dystonia, Dyt13 Type
Jerky head movements, Motor stereotypy ORPHA:98807
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Microtia, Median ps... OMIM:616462
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Abnormal fo... ORPHA:1787
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno... OMIM:214300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Sensorineural hearing impairment, Nonimmune hydrops fetalis, Umbilical hernia, Narr... OMIM:235510
Achondrogenesis Type 1B
Hydrops fetalis, Polyhydramnios, Thickened nuchal skin fold, Micromelia, Micrognathia, Cystic hyg... ORPHA:93298
Achondrogenesis Type 1A
Hydrops fetalis, Polyhydramnios, Thickened nuchal skin fold, Micromelia, Short palm, Micrognathia... ORPHA:93299
Pierpont Syndrome
Thin vermilion border, Short finger, Widely spaced teeth, Long upper lip, Prominent median palata... OMIM:602342
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, De... OMIM:617974
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity, Motor stereotypy OMIM:606053
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Foam cells, Hypoplastic acetabulae, Scoliosis, Kyphosis, Ch... OMIM:230650
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Low-set ears, Ascites, Kyphosis, Fetal skin edema, Pericardial effusion, Wide mo... OMIM:608776
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration ORPHA:95433
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Respiratory insufficiency, Increased intervertebra... OMIM:256050
Shprintzen Omphalocele Syndrome
Laryngeal hypoplasia, Hypoplasia of the pharynx, Webbed neck, Anteroposteriorly shortened larynx OMIM:182210
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Dysspondyloenchondromatosis
Kyphoscoliosis, Genu valgum, Joint dislocation, Scoliosis, Vertebral segmentation defect, Anisosp... ORPHA:85198
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Webbed neck, High palate, Everted lower li... OMIM:616549
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia, Neonatal death OMIM:612138
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Arthrogryposis, Distal, Type 12
Spinal rigidity, Ankle flexion contracture, Dental crowding, Agenesis of maxillary incisor, Scoli... OMIM:620545
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Cardiomyopathy, Death in infancy, Abnormality of the amniotic fluid, Micro... OMIM:608540
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Esophageal atresia, Right aortic arch, Ventricular sep... ORPHA:95430
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Dental malocclusion... ORPHA:363444
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Low-set, posteriorly rotated ears, Microtia, Ectopic anus, Abnormality of the de... ORPHA:2994
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Hearing abnormality, Intestinal polyposis, Peripheral s... ORPHA:252164
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Umbilical hernia, Long philtrum, Decreased fetal movement, Hip ... OMIM:265000
Ullrich Congenital Muscular Dystrophy
Decreased fetal movement, Abnormal palate morphology, Spinal rigidity, Torticollis, Scoliosis, El... ORPHA:75840
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Auriculocondylar Syndrome
Aplasia/Hypoplasia of the external ear, Abnormality of the temporomandibular joint, Low-set, post... ORPHA:137888
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Scoliosis, Low-set ears, Thick upper lip vermilion, Posteriorly rotated ears... OMIM:619717
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Polyhydramnios, Spina bifida occulta, Abnormal pinna morphology, Scoliosis, Kyphos... OMIM:618291
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atresia of the external ... ORPHA:3236
Spondylocostal Dysostosis 5
Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion OMIM:122600
Congenital Disorder Of Glycosylation, Type In
Respiratory insufficiency, Short neck, Micrognathia, Sensorineural hearing impairment OMIM:612015
Intellectual Disability, Birk-Barel Type
High, narrow palate, Protruding ear, Sacral dimple, Limited elbow flexion/extension, Short philtr... ORPHA:166108
Fetal Trimethadione Syndrome
Transposition of the great arteries, Scoliosis, Abnormal helix morphology, Low-set ears, High pal... ORPHA:1913
Vacterl With Hydrocephalus
Retrognathia, Esophageal atresia, Abnormal form of the vertebral bodies, Hemivertebrae, Microtia,... ORPHA:3412
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Wildervanck Syndrome
Fused cervical vertebrae, Webbed neck OMIM:314600
Zechi-Ceide Syndrome
Thin vermilion border, Abnormal earlobe morphology, Short philtrum, Stenosis of the external audi... ORPHA:217017
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, High palate, Low-set ears, Prominent me... OMIM:614541
Monosomy 9P
Congenital diaphragmatic hernia, Abnormal antihelix morphology, Microtia, High palate, Low-set ea... ORPHA:261112
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Protein-losing enteropathy, Low-set ears, Patent ductus... OMIM:608104
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Ventricular septal defect, Splenomegaly OMIM:616589
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Microtia-Anotia
Microtia, Anotia OMIM:600674
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, High palate... OMIM:618651
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Abnormality of the outer ear, Narrow mouth, Low-set ears, Anal a... ORPHA:261344
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Low-set, posteriorly rotated ears, M... ORPHA:1110
Brachyolmia Type 2
Platyspondyly OMIM:613678
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Death in childhood, Polyhydramnios, Knee flexion contracture, Necrotizing enterocolitis, High pal... OMIM:616809
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Gaucher Disease, Type Ii
Anemia, Double aortic arch, Death in infancy, Thrombocytopenia, Splenomegaly, Trismus OMIM:230900
Gombo Syndrome
Microphthalmia OMIM:233270
Aarskog-Scott Syndrome
Orofacial cleft, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Genu recurvatum, A... ORPHA:915
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Lymphatic Malformation 6
Abnormal pinna morphology, Ascites, Nonimmune hydrops fetalis, Splenomegaly, Edema, Scoliosis, He... OMIM:616843
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears OMIM:618147
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, High pala... OMIM:613684
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Short neck OMIM:300718
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Sialidosis Type 2
Hydrops fetalis, Ascites, Kyphosis, Hearing impairment, Splenomegaly, Umbilical hernia, Pedal edema ORPHA:87876
Fetal Gaucher Disease
Decreased fetal movement, Stillbirth, Hydrops fetalis, Low-set, posteriorly rotated ears, Pancyto... ORPHA:85212
22Q11.2 Deletion Syndrome
Chronic otitis media, Abnormal aortic arch morphology, Small earlobe, Splenomegaly, Umbilical her... ORPHA:567
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Maternal diabetes, Abnorma... ORPHA:2549
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Abnormal head movements, Self-injurious behavior, Aggressive behavior ORPHA:382
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae ORPHA:1436
Distal Deletion 10Q
Protruding ear, Spina bifida occulta, Facial diplegia, High palate, Abnormality of the outer ear,... ORPHA:96148
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism,... OMIM:618718
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Cleft palate, Increa... OMIM:612290
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Webbed neck, Respiratory insufficiency, Scoliosis, Low-set ears, High palate, Kyphosis, Short nec... ORPHA:178148
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Protruding ear, Webbed neck, Short philtrum, Abnormal antihelix morphol... ORPHA:261337
Winchester Syndrome
Carpal osteolysis, Arthropathy, Kyphosis, Generalized osteoporosis, Osteolysis involving tarsal b... OMIM:277950
Monosomy 18P
Kyphoscoliosis, Protruding ear, Short philtrum, Tooth malposition, Webbed neck, Abnormal antiheli... ORPHA:1598
Meier-Gorlin Syndrome 8
Microtia, Low-set ears, Bilateral cryptorchidism OMIM:617564
Chromosome 6Q11-Q14 Deletion Syndrome
Sacral dimple, High palate, Low-set ears, Bilateral cryptorchidism, Micrognathia, Smooth philtrum... OMIM:613544
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, To... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, To... ORPHA:352665
Kbg Syndrome
Webbed neck, Oligodontia, Bilateral conductive hearing impairment, Scoliosis, Thoracic kyphosis, ... ORPHA:2332
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Dental crowding, Sensorineural hearing impairment, Hyperlo... ORPHA:2789
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymp... ORPHA:83471
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Atrioventricular canal defect, Widely patent coronal suture, M... ORPHA:2409
Oculoauriculofrontonasal Syndrome
Microtia, Scoliosis, Narrow mouth, Conductive hearing impairment, Micrognathia, Cleft palate, Bro... ORPHA:398156
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Sprengel Deformity
Short neck, Cleft palate, Torticollis ORPHA:3181
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Anteverted ears, Micro... OMIM:610706
Atelis Syndrome 1
Anemia, Microtia, Hypothyroidism, Leukopenia, Thrombocytopenia, Atrial septal defect, Ventricular... OMIM:620184
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Legius Syndrome
High, narrow palate, High palate, Low-set ears, Low posterior hairline, Supravalvar pulmonary ste... OMIM:611431
Ring Chromosome 6 Syndrome
Respiratory insufficiency, Low posterior hairline, Macrotia, Short distal phalanx of finger, Shor... ORPHA:1448
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis, Elbow dislocation, Phalangeal dislocation ORPHA:85174
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Fanconi Anemia, Complementation Group L
Anemia, Esophageal atresia, Microtia, Low-set ears, Tracheoesophageal fistula, Anal atresia, Bone... OMIM:614083
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Mandibular prognathia, Intrauterine growth retardation, Bi... OMIM:618622
Orofaciodigital Syndrome Xvii
Retrognathia, High, narrow palate, Low-set ears, Prominent metopic ridge, Hearing impairment, Tet... OMIM:617926
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent otitis media, Patent ductu... OMIM:620570
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent sinusitis, Bifid uvula, Ovarian cyst, Ab... OMIM:188400
Phenobarbital Embryopathy
Mandibular prognathia, Low-set ears, Abnormal mitral valve morphology, Tetralogy of Fallot, Unila... ORPHA:1919
Immunodeficiency 42
Splenomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus OMIM:616622
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Gordon Syndrome
High palate, Hearing impairment, Camptodactyly of finger, Decreased muscle mass, Cleft palate, Cr... ORPHA:376
Bethlem Myopathy 2
Distal joint hypermobility, Scoliosis, Kyphosis, Flexion contracture, Hip dislocation OMIM:616471
Holoprosencephaly
Solitary median maxillary central incisor, Abnormal form of the vertebral bodies, Abnormal pinna ... ORPHA:2162
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Joint contracture of the 5th finger, Scoliosis, Microtia, High palate, Cutaneous mastocytosis, Co... OMIM:248910
Morquio Syndrome C
Platyspondyly OMIM:252300
Short Stature And Facioauriculothoracic Malformations
Microtia, Low-set ears, High palate, Cleft upper lip, Cleft palate, Ventricular septal defect, Ov... OMIM:609654
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Hennekam Syndrome
Retrognathia, Arteriovenous malformation, Abnormal pinna morphology, Ascites, Tooth agenesis, Lym... ORPHA:2136
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis, Flexion contracture, Joint hypermobility OMIM:618323
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Vascular ring, Kyphosis, Thoracic scoliosis OMIM:603387
Branchiootic Syndrome 3
Sensorineural hearing impairment, Branchial cyst OMIM:608389
Rubinstein-Taybi Syndrome 1
Retrognathia, Dislocated radial head, Dental crowding, Low posterior hairline, Premature thelarch... OMIM:180849
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Microtia, Hearing impairment, Pulmonar... OMIM:616006
Xia-Gibbs Syndrome
Laryngomalacia, Small earlobe, Low-set ears, Uplifted earlobe, Protruding ear OMIM:615829
Nuchal Bleb, Familial
Cystic hygroma, Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Mandibulofacial Dysostosis With Alopecia
Protruding ear, Stenosis of the external auditory canal, Microtia, Dental crowding, Low-set ears,... OMIM:616367
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Low-set ears, Micromelia, Short dist... ORPHA:85166
Catifa Syndrome
Delayed eruption of teeth, Tooth malposition, Increased overbite, Microtia, Camptodactyly, Cleft ... OMIM:618761
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of t... ORPHA:1597
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Elbow flexion contracture, Kyphosis, Hip contracture, Knee flexion cont... OMIM:600175
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Sensorineural hearing impairment, Low-set ears, Dehydration, Short palm, Posterior... OMIM:618958
Sandhoff Disease
Cherry red spot of the macula, Kyphosis ORPHA:796
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Short philtrum, Abnormal oral frenulum morphology, Camptodacty... ORPHA:1617
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Abnormal antitragus morphology... ORPHA:3082
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Distal Duplication 18Q
Low-set, posteriorly rotated ears, High palate, Thickened nuchal skin fold, Abnormal dental morph... ORPHA:1716
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Knee flexion contracture, Trismus, Whistling appearance, High palate, Narrow mout... OMIM:277720
Holoprosencephaly 13, X-Linked
Butterfly vertebrae, Solitary median maxillary central incisor, Duodenal atresia, Patent foramen ... OMIM:301043
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Patent ductus arteriosus OMIM:601612
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Low-set, posteriorly rotated ears, Umbilical hernia ORPHA:1918
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Abnormal heart mo... ORPHA:354
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Cubitus valgus, Genu valgum, Delayed erupt... OMIM:265900
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Macrotia, Stereotypical hand wringing ORPHA:397933
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, W... OMIM:244600
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Zimmermann-Laband Syndrome
Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, Sensorineural hearin... ORPHA:3473
Craniosynostosis And Dental Anomalies
Chronic otitis media, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth... OMIM:614188
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Abnormality of hand joint mobility, Genu... ORPHA:1159
Lateral Meningocele Syndrome
Dental crowding, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Bicuspid aortic valve, L... OMIM:130720
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Low-set, posteriorly rotated ears, Short metacarpal, Low posterior hairline, Decr... ORPHA:261524
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Webbed neck, Aortic root aneurysm, Shoulder dislocation, High pa... OMIM:618000
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Abnormal form of the vertebral bodies, Wide anterior fontanel, High palate, Kyphosis,... ORPHA:3098
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Sheldon-Hall Syndrome
Tarsal synostosis, Webbed neck, Scoliosis, Vertebral segmentation defect, High palate, Round ear,... ORPHA:1147
8Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Intrauterine growth retardation, Long philtrum, Short 5th finger, Olig... ORPHA:508488
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger... OMIM:610967
German Syndrome
Orofacial cleft, Hearing abnormality, Lymphedema, High palate, Everted lower lip vermilion, Campt... ORPHA:2077
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Cubitus valgus, Lymphadenopathy, Mandibular prognathia, Scoliosis, High palate, Low-set ears, Hyp... OMIM:619750
Acrootoocular Syndrome
Kyphoscoliosis, Supernumerary tooth, Grayish enamel, High, narrow palate, Decreased response to g... ORPHA:2980
Cornelia De Lange Syndrome 5
Limited elbow extension, Retrognathia, Thin vermilion border, Widely spaced teeth, High palate, H... OMIM:300882
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Primary Ciliary Dyskinesia
Chronic otitis media, Situs inversus totalis, Transposition of the great arteries, Recurrent otit... ORPHA:244
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Protruding ear, Sacral dimple, Abnormal pinna morphology, Scoliosis, High palate, L... OMIM:617452
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Agenesis of permanent teeth, Pulmoni... OMIM:201000
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Underdeveloped tragus, Hypopla... OMIM:610829
Mmep Syndrome
Orofacial cleft, Ventricular septal defect, Median cleft upper lip, Cryptorchidism ORPHA:3434
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Tetrasomy 15Q26
Kyphoscoliosis, Hypoplastic aortic arch, Low-set ears, High palate, Microretrognathia, Patent duc... OMIM:614846
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune h... OMIM:265380
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Abnormal form of the vertebral bodies, Abnormality of the philtrum, Hemivertebrae... ORPHA:2759
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip contracture, Enla... OMIM:313420
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Genu valgum, Irregularity of vertebral bodies OMIM:609324
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Abnormal vertebral morphology, Microtia, Narrow mouth, Atresia of the external aud... OMIM:239800
Urban-Rogers-Meyer Syndrome
Aplasia/Hypoplasia of the earlobes, Hypogonadism, Short neck, Cryptorchidism, Overfolded helix ORPHA:3409
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hydrops fetalis, Abnormal heart valve morphology, Gingival overgrowt... OMIM:230500
King-Denborough Syndrome
Kyphoscoliosis, Breech presentation, Webbed neck, Scoliosis, Thoracic kyphosis, Low-set ears, Hig... OMIM:619542
Greenberg Dysplasia
Retrognathia, Short ribs, Short metacarpal, Bone marrow hypocellularity, Hypoplastic vertebral bo... OMIM:215140
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Flat acetabular roof, Increased laxity of ankles, Joint st... ORPHA:750
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular hypertrophy, Pulmonary artery atresia, Low-set ears, High ... OMIM:612946
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Arthritis, Knee pain, Hypoplasia of the odontoid process, Irregular vertebral end... OMIM:184100
Yuan-Harel-Lupski Syndrome
Talipes valgus, Long philtrum, Aortic root aneurysm, High palate, Hearing impairment, Smooth phil... OMIM:616652
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Abnormal intervertebral disk morphology, Hip osteoarthritis, Abnormality of the ... ORPHA:99642
Acrocephalopolydactyly
Genu recurvatum, Microtia, Cystic hygroma, Hepatosplenomegaly, Limb undergrowth, Short neck ORPHA:221054
8P23.1 Duplication Syndrome
Pulmonic stenosis, Hearing impairment, Tetralogy of Fallot, Thick vermilion border, Long philtrum... ORPHA:251076
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal tricuspid valve morphology, Anemia, Hydrops fetalis, Abnormal aortic mor... ORPHA:3405
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Aortic aneurysm, Patent foramen ovale, Abnormal pinna morphology, Persistent left ... ORPHA:477817
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Short neck... ORPHA:98791
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Respiratory insufficiency, Scoliosis, Membranous subvalvular a... ORPHA:3191
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr... ORPHA:295
Achondrogenesis, Type Ii
Stillbirth, Hydrops fetalis, Polyhydramnios, Short ribs, Cleft palate, Cystic hygroma, Microretro... OMIM:200610
Blomstrand Lethal Chondrodysplasia
Hydrops fetalis, Platyspondyly, Polyhydramnios, Rhizomelia, Short ribs, Low-set ears, Synostosis ... ORPHA:50945
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Microtia, Atresia of ... OMIM:141400
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Ankle clonus, Atlantoaxial instability, Atlantoaxial d... OMIM:600561
Distal Duplication 6P
Aplasia/Hypoplasia of the earlobes, Short neck, Low-set ears, Abnormal antitragus morphology ORPHA:1745
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Ring Chromosome 14 Syndrome
Low-set ears, Short neck, High palate OMIM:616606
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Scoliosis, Hemivertebrae,... ORPHA:2916
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Premature birth, Shor... OMIM:134780
Alg9-Cdg
Hypoplasia of the ovary, Low posterior hairline, Bifid uvula, Wide mouth, Abnormal heart morpholo... ORPHA:79328
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Abnormal pinna morphology, Cleft palate, Abnorma... ORPHA:1681
Fetal Akinesia Deformation Sequence 2
Broad neck, Respiratory insufficiency, High palate, Low-set ears, Micrognathia, Cleft palate, Ten... OMIM:618388
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Short philtrum, Low-set ears, Downturned corners of mouth, Micrognathia, Platyspondyl... ORPHA:93267
Microtriplication 11Q24.1
Genu valgum, Short philtrum, Joint dislocation, Attached earlobe, Scoliosis, Hearing impairment, ... ORPHA:289522
Orofaciodigital Syndrome Ii
Scoliosis, High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Conductive hearin... OMIM:252100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Small earlobe, Oligodontia, ... ORPHA:364577
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Abnormality of the philtrum, Low-set ears, Abnormality of the dentition, Te... ORPHA:276422
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Short philtrum, Patent foramen ovale, Ventricular septal defect, Increased nuchal ... OMIM:615668
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Mixed hearing impairment, Dental crowding, Sensorineural hearing impairment, Meso... OMIM:616331
Smith-Magenis Syndrome
Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Abnormal nerve cond... OMIM:182290
Bruck Syndrome 1
Ankle flexion contracture, Platyspondyly, Pterygium, Vertebral wedging, Scoliosis, Elbow flexion ... OMIM:259450
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Retrognathia, Polyhydramnios, Respiratory insufficiency, Gingival overgrowth, High... OMIM:618186
Orofacial Cleft 15
Palate fistula, Bilateral cleft palate, Low-set ears, Protruding ear, Cryptorchidism, Agenesis of... OMIM:616788
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Webbed neck, High palate, Low-set ears, Uplifted earlob... OMIM:620662
Nablus Mask-Like Facial Syndrome
Broad neck, Small earlobe, Hypoplastic nipples, Low-set ears, Posteriorly rotated ears, Short nec... OMIM:608156
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Polyhydramnios, Wide anterior fontanel, Low-set ears, Thickened nuchal skin fold, M... OMIM:263210
Orofaciodigital Syndrome Type 2
Abnormal oral frenulum morphology, Tongue nodules, Taurodontia, Talon cusp, Unilateral alveolar c... ORPHA:2751
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Lumbar scoliosis, Platyspondyly, Irregular vertebral endplates OMIM:612847
Wildervanck Syndrome
Fused cervical vertebrae, Webbed neck, Meningocele, Low posterior hairline, Short neck ORPHA:3456
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Genu recurvatum, Scoliosis, Prominent median palatal raph... OMIM:300602
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Aortic aneurysm, Arthritis, Arthro... OMIM:203500
Mucopolysaccharidosis, Type Vii
Sensorineural hearing impairment, Cardiomyopathy, Kyphosis, Splenomegaly, Anterior beaking of low... OMIM:253220
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Long philtrum, Short 5th finger, Hip dislocation, Perimembranous ventricul... ORPHA:508498
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Wieacker-Wolff Syndrome
Retrognathia, Broad alveolar ridges, Scoliosis, Hyperlordosis, High palate, Low-set ears, Kyphosi... OMIM:314580
Schneckenbecken Dysplasia
Stillbirth, Polyhydramnios, Short ribs, Flat acetabular roof, Hypoplastic scapulae, Narrow verteb... OMIM:269250
Focal Facial Dermal Dysplasia Type Ii
Small earlobe, Abnormal pinna morphology, Absent earlobe, Low-set ears, Lop ear ORPHA:398173
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Low-set ears, Congenital hip dislocation, Short neck ORPHA:217385
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Retrognathia, Abnormal aortic valve morphology, Short philtrum, Low-set ears, Hypertrophic cardio... ORPHA:1194
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Webbed neck, Congenital muscular torticollis, Scoliosis, Low pos... OMIM:118100
Maternal Phenylketonuria
Long philtrum, Hypoplastic helices, Esophageal atresia, High palate, Coarctation of aorta, Abnorm... ORPHA:2209
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Scoliosis, High palate, Camptodactyly of finger, Cleft palate, Decreas... OMIM:614399
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Breech presentation, Microdontia, Death in infancy, Hydrops fetalis, Triangular mouth, Elbow flex... OMIM:300868
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Webbed... OMIM:178110
Noonan Syndrome 2
Abnormal coronary artery origin, Redundant neck skin, Cardiomyopathy, Low posterior hairline, Pul... OMIM:605275
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Stillbirth, Truncus arteriosus, Hypertrophic cardiomyopathy, Asplenia, Pu... OMIM:615415
Mulibrey Nanism
Hydrops fetalis, Cardiomegaly, Absent frontal sinuses, Dental crowding, Ascites, Hypoplastic fron... OMIM:253250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Genu recurvatum, Mandibular prognathia, Scoliosis, Short upper lip... ORPHA:364028
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Kyphosis ORPHA:85288
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:615524
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Low-set ears, Kyphosis, Abnormal dental morphology, Micr... ORPHA:2522
Distal Monosomy 7Q36
Non-midline cleft of the upper lip, Macrotia, Micrognathia, Cleft palate, Wide mouth, Short neck,... ORPHA:1636
3C Syndrome
Kyphosis, Death in infancy, Intestinal malrotation, Pulmonic stenosis, Abnormal mitral valve morp... ORPHA:7
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ears, Abnorma... ORPHA:178303
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the wrist, Bilateral conductive hearing impairment, Abnormality... ORPHA:2010
Lethal Kniest-Like Dysplasia
Polyhydramnios, Abnormal cartilage matrix, Breech presentation, Wide anterior fontanel, Mesomelic... ORPHA:2347
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Sensorineural hearing impairment, Pulmonic stenosis, Leukopenia, Splenomegaly, ... OMIM:612541
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements ORPHA:71518
Johnson Neuroectodermal Syndrome
Microtia, Atresia of the external auditory canal, Conductive hearing impairment, Tetralogy of Fal... ORPHA:2316
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Sensorineural hearing impairment, Abnormal pinna morphology, Scoliosis, High palate... ORPHA:52055
Noonan Syndrome 13
Microdontia, Low posterior hairline, Wide mouth, Mitral valve prolapse, Long philtrum, Scoliosis,... OMIM:619087
Braddock Syndrome
Congenital muscular torticollis, Scoliosis, Hemivertebrae, Missing ribs, Micrognathia, Posteriorl... ORPHA:52047
Atkin-Flaitz Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,... ORPHA:1193
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Trisomy 17P
Orofacial cleft, Patent ductus arteriosus, Scoliosis, Prominent metopic ridge, High palate, Narro... ORPHA:261290
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Polyhydramnios, Sensorineural hearing impairment, Glossoptosis, Ab... ORPHA:1427
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Retrognathia, Death in childhood, Patent ductus arteriosus, Sensorineural ... OMIM:612938
Baraitser-Winter Syndrome 2
Retrognathia, Orofacial cleft, Webbed neck, Abnormal pinna morphology, Hearing impairment, Wide m... OMIM:614583
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Scoliosis, Death in adolescence, Respiratory insufficiency due to muscle weaknes... OMIM:300717
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral super... OMIM:306955
Scalp-Ear-Nipple Syndrome
Breast aplasia, Delayed eruption of teeth, Small earlobe, Microtia, Underdeveloped tragus, Abnorm... ORPHA:2036
Oligomeganephronia
Pulmonary venous occlusion, Hearing impairment, Secundum atrial septal defect, Optic disc colobom... ORPHA:2260
Transaldolase Deficiency
Thin vermilion border, Anemia, Short philtrum, Pancytopenia, Wide anterior fontanel, Patent foram... OMIM:606003
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Ascites, Death in infancy, Splenomegaly, Alveolar ridge overgrowth, Pancreat... OMIM:235255
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Mixed hearing impairment, Broad neck, Sensorineural hearing impairment, High palate... OMIM:300472
Thomas Syndrome
Cleft upper lip, Cleft palate, Oligohydramnios, Hypoplastic left heart ORPHA:3316
Auriculoosteodysplasia
Aplasia/Hypoplasia of the earlobes, Attached earlobe, Macrotia ORPHA:114
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Microtia, Glossoptosis, Left ventricular hypertrophy, Intrauterine growth retarda... OMIM:611209
Charge Syndrome
Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Umbilical hernia, Abnormal cardia... ORPHA:138
Even-Plus Syndrome
Microtia, Patent foramen ovale, High palate, Anal atresia, Vertebral clefting, Coronal cleft vert... OMIM:616854
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, Spina bifida ORPHA:1104
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Microtia, Abnormality of t... ORPHA:246
Distal Deletion 9P
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphol... ORPHA:1642
Otoonychoperoneal Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, Mac... ORPHA:2793
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Adrenal cortical scleros... OMIM:102700
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Thrombocytopenia, Abnormal hemoglobin, ... ORPHA:3319
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Short neck, Low-set ears, Bilateral cleft lip, Thoracic scoliosis OMIM:616994
Pseudodiastrophic Dysplasia
Webbed neck, Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar ver... OMIM:264180
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Joint hypermobility, Scoliosis, Patent ductus arteriosus ORPHA:250989
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Howell-Jolly bodies, Pulmonary artery atresia, Left superior vena cava draini... OMIM:613759
Diamond-Blackfan Anemia 10
Anemia, Macrocytic anemia, Microtia, Reticulocytopenia, Low-set ears, Hearing impairment, Atresia... OMIM:613309
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Kyphosis, Dental malocclusion, Tongue... OMIM:141300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Retrognathia, Hypodontia, Metopic synostosis, Pulmonary artery atresia, Low-... OMIM:301056
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philt... OMIM:211380
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion ORPHA:313892
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Schinzel-Giedion Syndrome
Kyphoscoliosis, Retrognathia, Broad alveolar ridges, Abnormal heart morphology, Wide mouth, Umbil... ORPHA:798
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, High, narrow palate, Hydrops fetalis, Hypoplasia of the radius,... ORPHA:2879
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Retrognathia, Aplasia/Hypoplasia of the external ear, Sacral dimple, Scoliosis, High palate, Low-... ORPHA:505237
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal ORPHA:3023
Marden-Walker Syndrome
High, narrow palate, Dextrocardia, Wide anterior fontanel, Scoliosis, Narrow mouth, High palate, ... OMIM:248700
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Scoliosis, Hy... ORPHA:2780
Hyperekplexia 4
Kyphoscoliosis, Respiratory failure, High palate, Umbilical hernia OMIM:618011
Trisomy 12P
Abnormal antihelix morphology, Low-set ears, Everted lower lip vermilion, Anal atresia, Thickened... ORPHA:1699
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal colo... ORPHA:231736
Filippi Syndrome
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Cryptorchidism, Abnormal d... OMIM:272440
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microtia, Patent ductus arteriosus ORPHA:2547
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting OMIM:300624
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Kyphosis, Death in infancy, Mesomelia, Wide mouth, Umbilical hernia, Long p... ORPHA:1507
Infantile Sialic Acid Storage Disease
Death in childhood, Hydrops fetalis, Vacuolated lymphocytes, Gingival overgrowth, High palate, As... OMIM:269920
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... OMIM:620107
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary cent... OMIM:301040
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Beaking of vertebral bodies T12-L3, Platyspondyly, Acetabular dyspl... ORPHA:79255
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Interrupted aortic arch, Wide anterior fontanel, ... OMIM:616920
Diaphanospondylodysostosis
Lumbosacral meningocele, Webbed neck, Respiratory insufficiency, Absent in utero ossification of ... OMIM:608022
Nanophthalmos
Microphthalmia ORPHA:35612
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Cranioectodermal Dysplasia 2
Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Splenomegaly, Broa... OMIM:613610
Thalidomide Embryopathy
Hearing impairment, Anotia, Abnormality of the outer ear ORPHA:3312
Wilson-Turner Syndrome
Microtia, Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:3459
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Wrist flexion contracture, Umbilical hernia, Scoliosis, Micromelia, Malar flatten... OMIM:255800
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Biconcave vertebral bodies... ORPHA:93284
6P22 Microdeletion Syndrome
Abnormal palate morphology, Low-set ears, Hearing impairment, Patent ductus arteriosus, Short nec... ORPHA:251046
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Retrognathia, Spinal rigidity, Polyhydramnios, Breech presentation, Tri... OMIM:620369
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
Adams-Oliver Syndrome 4
Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar ridges, Abnorma... ORPHA:2863
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Question mark ear, Hearing impairment, Cleft palate OMIM:620457
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Low-set ears, Macrotia, Micrognathia, Malar flattening, Short neck, Dental malo... ORPHA:436245
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Nanophthalmos 4
Microphthalmia OMIM:615972
Fliedner-Zweier Syndrome
Hypoplastic aortic arch, Meningocele, Scoliosis, Kyphosis, Joint hypermobility OMIM:620511
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft of the upper lip, Decreased testicular size, Hearing impairment, Cleft palate, ... ORPHA:85273
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Cerebrocostomandibular Syndrome
Glossoptosis, Short humerus, Long philtrum, 10 pairs of ribs, Scoliosis, Elbow flexion contractur... OMIM:117650
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Sinusitis, Abnormal sacrum morphology, Hearing abnormality, S... ORPHA:1452
Wieacker-Wolff Syndrome, Female-Restricted
Polyhydramnios, Scoliosis, Low-set ears, Kyphosis, Downturned corners of mouth, Cleft palate, Pos... OMIM:301041
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Spina bifida occulta, Meningocele, Abnormal form of the verteb... ORPHA:2311
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Patent for... ORPHA:500159
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Achondrogenesis, Type Ia
Stillbirth, Hypoplastic sacrum, Hydrops fetalis, Polyhydramnios, Hypoplasia of the radius, Unossi... OMIM:200600
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Short philtrum, Hypodontia, Microtia, Scoliosis, Narrow mouth, Thora... OMIM:620250
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Scoliosis, Abnormality of the tongue muscle, Respiratory failure, Cryp... ORPHA:370968
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Broad neck, Short metacarpal, Pulmonic stenosis, Um... OMIM:261540
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
20P12.3 Microdeletion Syndrome
Atrial septal defect, Microtia, Thickened helices ORPHA:261295
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Webbed neck, Small earlobe, Underdeveloped tragus, ... OMIM:616268
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Vascular dilatation, Patent ductus arteriosus, Anemia, Aplasia/Hypoplasia of the earlobes, Laryng... ORPHA:2637
Crisponi/Cold-Induced Sweating Syndrome 1
Kyphoscoliosis, Retrognathia, Limited elbow extension, Elbow flexion contracture, High palate, Na... OMIM:272430
Fetal Akinesia Deformation Sequence 1
Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Decreased fetal movement, ... OMIM:208150
Cleft Velum
Recurrent otitis media, Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairme... ORPHA:99772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Vertebral fusion OMIM:606612
Atelosteogenesis, Type I
Short metacarpal, Premature birth, Short humerus, Thoracic platyspondyly, Fibular aplasia, Short ... OMIM:108720
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Platyspondyly, Abnormality of the elbow, Hemiatrophy of upper lim... ORPHA:163649
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect, Abnormality of the outer ear ORPHA:2515
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Sensorineural hearing impairment, Intestinal malrotation, Pulmonic stenosis, Aor... ORPHA:353281
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia, Abnormal circulating osteocalcin level, Small earlobe, Abnormal antitragu... ORPHA:93315
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Li-Campeau Syndrome
Patellar hypoplasia, Patent foramen ovale, Low-set ears, Cryptorchidism, Hypothyroidism, Patent d... OMIM:619189
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Noonan Syndrome 5
Polyhydramnios, Cubitus valgus, Webbed neck, Mandibular prognathia, Low-set ears, Hypertrophic ca... OMIM:611553
3-Hydroxyisobutyric Aciduria
Microtia, Hypogonadotropic hypogonadism ORPHA:939
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sensorineural hearing impairment, Wide mouth, Mild fetal ventriculomegaly, Decreased fetal moveme... OMIM:619841
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Dental maloc... OMIM:619719
Cornelia De Lange Syndrome 2
Limited elbow movement, High palate, Short foot, Hypertrophic cardiomyopathy, Downturned corners ... OMIM:300590
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Low-set, posteriorly rotated ears, Webbed neck, Abnormal form of the vertebral bo... ORPHA:1486
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Mixed hearing impairment, Macrocytic anemia, Sensorineural heari... OMIM:606164
Baraitser-Winter Syndrome 1
Retrognathia, Orofacial cleft, Bicuspid aortic valve, Sensorineural hearing impairment, Overfolde... OMIM:243310
Coxoauricular Syndrome
Hearing impairment, Microtia, Atresia of the external auditory canal, Hip dislocation ORPHA:1508
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Redundant neck skin, Wide anterior fontanel, Abnormal pinna morphology, Cardiomyopathy, Short pal... OMIM:217980
Fryns Syndrome
Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Long philtrum, Short distal ... ORPHA:2059
48,Xyyy Syndrome
Thick lower lip vermilion, Dislocated radial head, High palate, Enamel hypoplasia, Irregularly sp... ORPHA:99329
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation OMIM:133705
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Abnormal antihelix morpholo... ORPHA:1387
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Wrist flexion contracture, Limited knee extension, Congenital finger flexion cont... OMIM:121050
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Short 1st metacarpal, Short hallux, Respiratory insufficiency, Sensorineural... OMIM:135100
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Osteoarthritis, Hip osteoarthritis OMIM:271600
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Neutropenia, Anemia, Sensorineural hearing impairment, Short middle phalanx of t... OMIM:616738
Sweeney-Cox Syndrome
Short philtrum, Wide anterior fontanel, Patent foramen ovale, Microtia, Low-set ears, High palate... OMIM:617746
Distal Duplication 15Q
Congenital muscular torticollis, High palate, Anal atresia, Camptodactyly of finger, Downturned c... ORPHA:1707
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Delayed puberty, Supernumerary tooth, Abnormal antihelix morphology, Nephrogenic diabetes insipid... ORPHA:3145
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hip dislocation OMIM:300434
Ring Chromosome 10 Syndrome
Thin vermilion border, Aganglionic megacolon, Abnormal antihelix morphology, Low-set ears, Microg... ORPHA:1438
Tarp Syndrome
Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Small earlobe, Cryptorchidism, ... ORPHA:2886
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Laryngomalacia, Small earlobe, Low-set ears, Hearing impairment, Uplifted earlobe, Protruding ear ORPHA:412069
Vitamin K Antagonist Embryofetopathy
Respiratory insufficiency, Microtia, Myelomeningocele, Punctate vertebral calcifications, Hearing... ORPHA:1914
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Sensorineural hearing impairment, Intestinal malrotati... ORPHA:2712
Intermediate Nemaline Myopathy
High, narrow palate, Polyhydramnios, Low-set ears, Premature birth, Decreased fetal movement, Lon... ORPHA:171433
Leopard Syndrome 2
Thick lower lip vermilion, Cubitus valgus, Webbed neck, Mandibular prognathia, Low-set ears, Hype... OMIM:611554
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Tyshchenko Syndrome
Narrow palate, High, narrow palate, Polyhydramnios, High palate, Low-set ears, Cryptorchidism, Pu... OMIM:615102
Otofaciocervical Syndrome
Abnormal antihelix morphology, Atresia of the external auditory canal, Macrotia, Conductive heari... ORPHA:2792
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Short metacarpal, Bifid uvula, Short 5th fi... OMIM:268305
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Microtia, Low-set ears, High palate, Submucous cleft hard palat... OMIM:619314
Distal Triplication 15Q
Retrognathia, Hypoplastic aortic arch, Sensorineural hearing impairment, Scoliosis, Microtia, Abn... ORPHA:314588
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:1909
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Microdontia, Bifid uvula, Long philtrum, Bicuspid aortic valve,... OMIM:612474
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Widely spaced teeth, Mandibular prognathia, Patent foramen ovale, High palate, Low-set ears, Vent... ORPHA:369891
Greenberg Dysplasia
Abnormal bone ossification, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificat... ORPHA:1426
Pontocerebellar Hypoplasia, Type 1D
Fetal distress, Respiratory insufficiency, Low-set ears, High palate, Decreased fetal movement, I... OMIM:618065
Deafness, X-Linked 7
Hearing impairment, Stenosis of the external auditory canal, Atresia of the external auditory can... OMIM:301018
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies ORPHA:85172
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Thickened nuchal skin fold, Macrotia, Micrognathia, Camptodactyly of finger, Posteriorly rotated ... ORPHA:2083
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Lower cranial nerve dysfunction, Abnormal cranial nerve phys... ORPHA:90117
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Aortic valve stenosis, Bifid uvula, Umbilical hernia, Intrauter... OMIM:601808
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Microdontia, Abnormal spaced incisors, Tarsal synostosis, Tooth ma... ORPHA:363417
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri... ORPHA:2114
Trisomy 8Q
Orofacial cleft, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, High pala... ORPHA:1752
Diamond-Blackfan Anemia 6
Retrognathia, Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Pers... OMIM:612561
Pontocerebellar Hypoplasia, Type 1C
Hearing impairment, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Multiple Synostoses Syndrome 1
Tarsal synostosis, Proximal/middle symphalangism of 5th toe, Cubitus valgus, Short philtrum, Disl... OMIM:186500
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Delayed puberty, Short philtrum, Sensorineural hearing impairment, Oligodontia, S... ORPHA:391408
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Scoliosis, Kyphosis, Contrac... OMIM:130060
Hypertelorism-Microtia-Facial Clefting Syndrome
Microtia, Median cleft palate, Atresia of the external auditory canal, Conductive hearing impairm... ORPHA:2213
Cri-Du-Chat Syndrome
Orofacial cleft, Thick lower lip vermilion, Short metatarsal, Short philtrum, Anterior open-bite ... OMIM:123450
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Kyphosis, Decreased calvarial ossification, Multiple prenatal fractures... OMIM:259440
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Hyperlordosis, Kyphosis, Wide mouth, Large elbow, Cervical subluxation, Scol... OMIM:253000
Duplication Of The Pituitary Gland
Abnormal odontoid process morphology, Supernumerary tooth, Retrognathia, Polyhydramnios, Encephal... ORPHA:314621
Congenital Myopathy 1B, Autosomal Recessive
Hydrops fetalis, Polyhydramnios, Respiratory insufficiency, Scoliosis, High palate, Decreased fet... OMIM:255320
Congenital Myopathy 14
Decreased fetal movement, Polyhydramnios, Elbow flexion contracture, High palate, Death in infanc... OMIM:618414
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Vascular dilatation, Microtia, Wormian bones, Low-set ears, Flat acetabular r... OMIM:613320
Cohen Syndrome
Delayed puberty, High, narrow palate, Decreased response to growth hormone stimulation test, Cubi... OMIM:216550
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Decreased fetal movement, Respiratory failure, Atr... OMIM:253300
X-Linked Intellectual Disability, Snyder Type
Webbed neck, Small earlobe, Low-set ears, Testicular atrophy, Abnormality of the Leydig cells, Cr... ORPHA:3063
8P23.1 Microdeletion Syndrome
Thin vermilion border, Transposition of the great arteries, Atrioventricular canal defect, Abnorm... ORPHA:251071
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Macrotia, Hypsarrhythmia, Motor stereotypy OMIM:619877
Trisomy 9P
Sacral dimple, Dental crowding, Non-midline cleft of the upper lip, Scoliosis, Kyphosis, Macrotia... ORPHA:236
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
4Q21 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Scoliosis, Low-set ears, Abnormality of the dentition, Kyp... ORPHA:238750
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Madelung deformity, Scoliosis, Right aortic arch, Kyphosis, Volvulus, Abnormal he... OMIM:301111
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Intrauterine grow... OMIM:619003
Superficial Siderosis
Abnormality of the vestibulocochlear nerve, Dysgyria, Vertigo, Bilateral sensorineural hearing im... ORPHA:247245
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Breech presentation, Dental crowding, Wrist flexion contracture, Flexion contract... OMIM:193700
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Scoliosis, Abnormality of the middle ear, Atresia of the exter... ORPHA:1488
Congenital Syphilis
Myocarditis, Osteochondrosis, Large placenta, Hydrops fetalis, Anemia, Lymphadenopathy, High pala... ORPHA:499009
Cog7-Cdg
Retrognathia, Narrow mouth, Micrognathia, Abnormal heart morphology, Hepatosplenomegaly, Short neck ORPHA:79333
Anauxetic Dysplasia 2
Cubitus valgus, Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Hypoplas... OMIM:617396
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Hearing impairment, Atresia of the external auditory canal, Aganglionic megacolon, Abnormal auton... OMIM:243180
Fanconi Anemia, Complementation Group B
Aplastic anemia, Single umbilical artery, Abnormal vertebral morphology, Esophageal atresia, Low-... OMIM:300514
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors, Low-set ... OMIM:620021
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Dental crowding, Sensorineural hearing impairment, Intesti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Dental crowding, Sensorineural hearing impairment, Intesti... ORPHA:353277
3Q13 Microdeletion Syndrome
Long philtrum, Short neck, Cryptorchidism ORPHA:1621
Triploidy
Polyhydramnios, Low-set, posteriorly rotated ears, Meningocele, Non-midline cleft of the upper li... ORPHA:3376
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Scoliosis, High palate, Wrist flexion contracture, Macrotia, Micrognathia, Short ... OMIM:300055
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Redundant neck skin, Hydranencephaly, Low-set ears, Neonatal death, Cystic hygroma, M... OMIM:236500
Humeroradial Synostosis
Small earlobe, Microtia OMIM:236400
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Spinal rigidity, Hyperlordosis, Kyphosis OMIM:617404
Tetraploidy
Aplasia/Hypoplasia of the thymus, Cleft palate, Hypoplasia of the ear cartilage, Short philtrum ORPHA:3305
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Sensorineural hearing impairment, Narrow mouth, Low-set... OMIM:608779
Monosomy 18Q
Kyphoscoliosis, Pulmonary valve defects, Sensorineural hearing impairment, Aortic valve stenosis,... ORPHA:1600
17Q24.2 Microdeletion Syndrome
Broad neck, Recurrent otitis media, Cubitus valgus, Short philtrum, Tooth malposition, Abnormalit... ORPHA:529962
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Anterior creases of earlobe, Low-set ears OMIM:182875
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Cystic hygroma, Abnormal cervical curvature, Flexion contra... OMIM:312150
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Genu valgum, Reduced bone mineral density, Torticollis, Shallow acetabular fossae, Se... OMIM:620639
Frank-Ter Haar Syndrome
Kyphoscoliosis, Broad alveolar ridges, Kyphosis, Wide mouth, Mitral valve prolapse, Patent forame... OMIM:249420
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Recurrent otitis media, Periarticular soft-tissue mass, Synovitis, Lumbar sc... OMIM:601492
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis ORPHA:93283
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Sclerotic vertebral endplates, Arthropathy, Enlarged interphalangeal joints, Oste... OMIM:208230
Microcephaly-Micromelia Syndrome
Absent radius, Craniosynostosis, Narrow mouth, Low-set ears, Missing ribs, Micromelia, Humeroradi... OMIM:251230
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Otosclerosis, Hearing impairment, Biconcave flattened vertebrae, Dentinogenesis ... OMIM:166200
Noonan Syndrome 4
Atrial septal defect, Polyhydramnios, Cubitus valgus, Webbed neck, Scoliosis, Low-set ears, Hyper... OMIM:610733
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae OMIM:156510
Short-Rib Thoracic Dysplasia 12
Anencephaly, Abnormal pinna morphology, Short ribs, Ascites, Intestinal malrotation, Splenomegaly... OMIM:269860
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Protruding ear, Cleft palate OMIM:302905
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydramnios, Abnormall... ORPHA:1263
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Orofacial cleft, Abnormal pinna morphology, Low-set ears, Kyphosis, Increased nuchal translucency... ORPHA:77300
Xp22.13P22.2 Duplication Syndrome
Mandibular prognathia, Scoliosis, High palate, Hearing impairment, Umbilical hernia, Short neck, ... ORPHA:284180
Cerebellofaciodental Syndrome
Genu valgum, Scoliosis, Low-set ears, Cryptorchidism, Shortening of all distal phalanges of the f... OMIM:616202
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Microtia, Cryptorchidism, Low-set ears, Patent ductus arteriosus ORPHA:171839
Campomelia, Cumming Type
Hydrops fetalis, Abnormal intestine morphology, Lymphedema, Abnormally ossified vertebrae, Death ... ORPHA:1318
Myhre Syndrome
Microtia, Aortic valve stenosis, Intrauterine growth retardation, Short finger, Short philtrum, E... OMIM:139210
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin... OMIM:257850
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis, Patent ductus arteriosus OMIM:618658
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, Thick lower lip vermilion, Sensorineural hearing impairment, Gingival overgrowth, ... OMIM:220500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, Muscular ventricular septal defect, Notched primary central incisor, Hydrocele testis OMIM:620062
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Low-set ears, Camptodactyly of finger, Micrognathia, Decreased fetal movement, I... ORPHA:2570
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypoplastic helices, Death in childhood, Low-set ears, Cryptorchidism, Macrotia, Coarctation of a... OMIM:600460
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Splenomegaly... OMIM:619462
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Arteria lusoria, Muscular ventricular sep... OMIM:212093
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Scoliosis, Low-set ears, Cryptorchidism, Micrognathia, Mitral v... ORPHA:444072
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Glossoptosis, Low-set ears, Absent nipple, Ankyloglossia, Micrognath... OMIM:618021
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Laryngomalacia, Low-set ears, Posteriorly rotated ears, Delayed eruption of permanent teeth, Vent... OMIM:618506
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Protruding ear, Short metatarsal, Long upper lip, Hyperlordosis, High palate... ORPHA:77258
Congenital Velopharyngeal Incompetence
Hearing impairment, Abnormal palate morphology, Velopharyngeal insufficiency, Abnormality of the ... ORPHA:2291
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Dislocation of the... OMIM:619797
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Thin vermilion border, Patellar hypoplasia, Abnormality of the endocrine system, Se... ORPHA:464288
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Broad alveolar ridges, Low-set ears, High palate, Posteriorly rotate... OMIM:314320
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Broad neck, Congenital adrenal hypoplasia,... OMIM:618336
15Q11.2 Microdeletion Syndrome
Abnormal pinna morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorma... ORPHA:261183
3M Syndrome
Hypoplasia of the ulna, Protruding ear, Increased vertebral height, Delayed eruption of teeth, Ab... ORPHA:2616
Three M Syndrome 2
Protruding ear, Delayed eruption of teeth, Short 5th finger, Hyperlordosis, High palate, Thick ve... OMIM:612921
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, High, narrow palate, Recurrent otitis media, Scoliosis, Patent foramen ovale, Low-... OMIM:618494
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, Low-set, posteriorly... ORPHA:79329
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Low-set ears, Everted lower lip vermil... OMIM:616789
Spondylo-Ocular Syndrome
Thin vermilion border, Platyspondyly, Abnormal intervertebral disk morphology, Webbed neck, Abnor... ORPHA:85194
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Coarctation of aorta, Abnormal vertebral morphology ORPHA:280195
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis OMIM:615542
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Multiple joint dislocation, Carpal bone hypoplasia, Joint hypermobility, Dislocated radial head, ... OMIM:618395
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Broad neck, Cubitus valgus, Narrow philtru... ORPHA:163654
Myopathy, X-Linked, With Postural Muscle Atrophy
Limited neck flexion, Spinal rigidity, Respiratory insufficiency, Scoliosis, Hypertrophic cardiom... OMIM:300696
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Avascular necrosis, Joint stiffness, Osteoarthritis, Pla... ORPHA:1345
Recombinant 8 Syndrome
Chronic otitis media, Abnormal oral frenulum morphology, Abnormality of the anus, Scoliosis, Abno... ORPHA:96167
Bruck Syndrome
Pterygium, Scoliosis, Wormian bones, Kyphosis, Osteoporosis, Joint stiffness, Platyspondyly, Arth... ORPHA:2771
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar... ORPHA:980
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Kapur-Toriello Syndrome
Scoliosis, Low-set ears, Low posterior hairline, Cryptorchidism, Intestinal malrotation, Cleft up... OMIM:244300
Aarskog-Scott Syndrome
Delayed puberty, Elevated circulating luteinizing hormone level, Broad philtrum, Short 5th finger... OMIM:305400
19P13.12 Microdeletion Syndrome
Thin vermilion border, Craniosynostosis, Hypodontia, Sensorineural hearing impairment, Abnormal p... ORPHA:254346
Branchiooculofacial Syndrome
Sensorineural hearing impairment, Microtia, Hyperlordosis, Low posterior hairline, Kyphosis, Malr... OMIM:113620
Odontochondrodysplasia
Delayed eruption of teeth, Scoliosis, Patent ductus arteriosus, Platyspondyly, Joint hypermobility ORPHA:166272
Basilicata-Akhtar Syndrome
Retrognathia, Abnormal pinna morphology, Low-set ears, Hearing impairment, Precocious puberty, Do... OMIM:301032
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Short uvula, Short lingual frenulum, Short ribs, High palate, Flat acetabular ro... OMIM:614091
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Nemaline bodies, Death in infancy, Increased variability in muscle fiber diam... OMIM:620265
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Gingival overgrowth, Abnormal intestine morphology, Microt... ORPHA:1834
Xk Aprosencephaly Syndrome
Polyhydramnios, Narrow mouth, Anal atresia, Atrial septal defect, Ventricular septal defect ORPHA:3469
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Genu valgum, Low-set, posteriorly rotated ears, Spina bifida occulta, Shor... ORPHA:2983
Mungan Syndrome
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Abnor... OMIM:611376
Spondylometaphyseal Dysplasia, Type A4
Osteoporotic tarsals, Flat acetabular roof, Irregular patellae, Ovoid vertebral bodies, Platyspon... OMIM:609052
Congenital Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the external ear, Low-set ears, Vascular granular osmiophilic material depo... ORPHA:168486
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Microtia, Hypergonadotropic hypogona... ORPHA:163976
Teebi-Shaltout Syndrome
Hypoplastic helices, Small earlobe, Low-set ears, Aortic valve stenosis, Ventricular septal defect OMIM:272950
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Pterygium, Abnormal form of the vertebral bodies, Arthritis, Arthropathy, Prem... ORPHA:371428
Isolated Pierre Robin Syndrome
Abnormality of the pharynx, Cleft palate, Glossoptosis ORPHA:718
Chromosome 10Q26 Deletion Syndrome
Limited elbow extension, Protruding ear, Webbed neck, Craniosynostosis, Sensorineural hearing imp... OMIM:609625
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal palate morphology, Low-set, posteriorly rotated ears, Scoliosis, Open bite, Vertebral se... ORPHA:2617
Trisomy 20P
Abnormal form of the vertebral bodies, Everted lower lip vermilion, Microdontia, Low posterior ha... ORPHA:261318
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Microtia, Everted lower lip vermilion, Ascites, Premat... OMIM:608013
Atelosteogenesis, Type Iii
Rhizomelia, Cervical segmentation defect, Scoliosis, Horizontal sacrum, Flat acetabular roof, Hyp... OMIM:108721
Holzgreve Syndrome
Cleft upper lip, Cleft palate, Hypoplastic left heart OMIM:236110
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Scoliosis, Respiratory insufficiency due to muscle weakness, Hi... ORPHA:2590
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Anemia, Small earlobe, Microtia, Leukocytosis, Conductive hearing impairm... ORPHA:99843
Al-Gazali-Bakalinova Syndrome
Genu valgum, Triangular mouth, Lymphedema, Low-set ears, Enlarged joints, Malar flattening, Short... OMIM:607131
Neu-Laxova Syndrome 2
Polyhydramnios, Scoliosis, High palate, Low-set ears, Spina bifida, Micrognathia, Cleft palate, D... OMIM:616038
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Joint hypermobility, Thoracolumbar kyphosis OMIM:236660
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Hypoplasia of the thymus, Camptodactyly, Abnormal heart morphology, Cl... OMIM:214110
Down Syndrome
Microtia, Aganglionic megacolon, Patent foramen ovale, Pulmonary artery stenosis, Patent ductus a... OMIM:190685
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Ankle flexion contracture, Foot joint contracture, Congenital muscular torticolli... ORPHA:536516
Diamond-Blackfan Anemia
Normochromic anemia, Microtia, Macrocytic dyserythropoietic anemia, Abnormal heart morphology, Le... ORPHA:124
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Arteriovenous malformation, Hydrops fetalis, Scoliosis, Lym... ORPHA:584
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Rafiq Syndrome
Short philtrum, Low-set ears, Macrotia, Malar flattening, Smooth philtrum, Short neck, Thin upper... OMIM:614202
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Recurrent otitis media, Absent cupid's bow, Abnormal Eustachian tube... ORPHA:513456
Braddock-Carey Syndrome 2
Hearing impairment, Retrognathia, Atresia of the external auditory canal OMIM:619981
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Cystic hygroma, Abnormal cervical curvature, Flexion contra... OMIM:253290
Dental Anomalies And Short Stature
Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicular distance, Delayed skel... OMIM:601216
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Low-set ears, Cleft upper lip, Pericardial effusion, Clef... OMIM:613885
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Dental crowding, Sensorineural hearing impairment, Patent foramen ovale... OMIM:612582
Acro-Renal-Mandibular Syndrome
Tracheoesophageal fistula, Kyphosis, Intrauterine growth retardation, Oligohydramnios, Hip disloc... ORPHA:958
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Retrognathia, High, narrow palate, Short philtrum, High palate, Low-set ears, Micrognathia, Absen... OMIM:620156
8P Inverted Duplication/Deletion Syndrome
Retrognathia, High, narrow palate, Dextrocardia, Scoliosis, Everted lower lip vermilion, Precocio... ORPHA:96092
Alg3-Cdg
Neural tube defect, Abnormality of the endocrine system, Coarctation of the descending aortic arc... ORPHA:79321
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis, Delayed eruption of teeth ORPHA:71267
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Hump-shaped mound of bone in central... OMIM:313400
Scalp-Ear-Nipple Syndrome
Breast aplasia, Small earlobe, Microtia, Underdeveloped tragus, Low-set ears, Underdeveloped anti... OMIM:181270
Marshall Syndrome
Thick lower lip vermilion, Recurrent otitis media, Platyspondyly, Absent frontal sinuses, Sensori... OMIM:154780
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Polyhydramnios, Low-set, posteriorly rotated ears, Abno... ORPHA:3071
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Respiratory failure requiring assisted ventilation, Retrognathia, Scoliosis, High palate, Long ph... OMIM:619026
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Laryngomalacia, La... OMIM:617660
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Tooth agenesis, Scoliosis, Hearing impairment, Carious teeth, Clef... OMIM:618363
Viss Syndrome
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurrent jo... OMIM:619472
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Patent ductus ... OMIM:618961
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Hyperextensibility of the finger joints, Scoliosis, Genu recurvatum, Kyphos... OMIM:609008
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Low-set ears, Patent ductus arteriosus, Atrial septal defect, Ventricular septal def... OMIM:618330
Distal Xq28 Microduplication Syndrome
Absent antihelix, Thick lower lip vermilion, Dental crowding, Patent foramen ovale, Microtia, Hig... ORPHA:293939
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Ventricular septal defect, Hypopl... ORPHA:2476
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Prominent metopic ridge, Uplifted earlobe, Bi... OMIM:618779
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Osteoporosis, Delayed skeletal maturation, Irregular vertebral endplates, Pl... OMIM:234250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Osteopenia, Webbed neck, Delayed eruption of teeth, Dislocated radial head, Campt... OMIM:612350
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Lumbar hyperlordosis, Kyphosis, Hip dislocation OMIM:616756
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Neuraminidase Deficiency
Hydrops fetalis, Sensorineural hearing impairment, Bone-marrow foam cells, Vacuolated lymphocytes... OMIM:256550
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Hip subluxation, Short philtrum, Microtia, Low-set ears, Narrow mouth, Unilateral... ORPHA:447980
Isotretinoin Syndrome
Spina bifida occulta, Microtia, Micrognathia, Cleft palate, Abnormality of the outer ear ORPHA:2305
Kniest Dysplasia
Recurrent otitis media, Rhizomelia, Abnormal cartilage collagen, Conductive hearing impairment, H... OMIM:156550
Fumarase Deficiency
Optic atrophy, Perimembranous ventricular septal defect, Polymicrogyria, Necrotizing enterocoliti... OMIM:606812
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Small earlobe, Hypoplastic nipples, Absent nipple, Cryptorchidism OMIM:616001
Three M Syndrome 1
Thick lower lip vermilion, Increased vertebral height, Spina bifida occulta, Joint dislocation, M... OMIM:273750
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Reduced bone mineral density, Kyphosis OMIM:618392
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema, Death in infancy, Downturned corners of mouth, Micrognathia, Neonatal death, Short neck OMIM:616342
Desanto-Shinawi Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Hearing impairment, Downturned corne... OMIM:616708
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Inappropriate la... OMIM:614104
Yunis-Varon Syndrome
Redundant neck skin, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal pinna ... ORPHA:3472
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Microphthalmia, Hyperactivity OMIM:274270
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Everted lower lip vermilion, Cerebral edema, Cardiomegaly, Narrow pa... OMIM:620371
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Patent foramen ovale, Short 5th finger, Micrognathia, Short thumb, Smooth philtrum, L... OMIM:618821
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Low-set ears, Vascular granular osmiophilic material deposition, Neona... OMIM:610127
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Protruding ear, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor stereotypy, ... OMIM:618342
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Genu valgum, Low-set, posteriorly rotated ears, Spina bifida occulta,... ORPHA:949
Kniest Dysplasia
Fused cervical vertebrae, Delayed epiphyseal ossification, Vertebral wedging, Arthropathy, Laryng... ORPHA:485
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis, Death in infancy OMIM:619340
48,Xxxy Syndrome
Chronic otitis media, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular pr... ORPHA:96263
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Scoliosis, Elbow dislocation, Camptodactyly o... ORPHA:1425
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Delayed skeletal maturation, Scoliosis, Kyphosis ORPHA:1548
Ring Chromosome 21 Syndrome
Scoliosis, Thoracic hemivertebrae, Fused thoracic vertebrae ORPHA:1445
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, High p... ORPHA:314795
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Short philtrum, Atrial septal defect, Ventricular septal defect, Widel... OMIM:608227
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve, Hydrocephalus, Dysplastic ... OMIM:612863
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Respiratory insufficiency, Scoliosis, Narrow mouth, High palate, Low-set ears, Macrotia, Microgna... ORPHA:562528
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Mesomelia, Long philtrum, Hypoplastic right heart, Sacral dimple, Triangular mouth, Sco... OMIM:616894
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Microtia, Glossoptosis, Wrist flexion contracture, Thoracolumbar scoliosis, ... ORPHA:436003
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Torticollis, Low-set, posteriorly rotated ears, Plantar flexion contracture,... ORPHA:2872
Crouzon Syndrome
Optic atrophy, Lambdoidal craniosynostosis, Mandibular prognathia, Atresia of the external audito... OMIM:123500
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Auriculoosteodysplasia
Attached earlobe OMIM:109000
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Retrognathia, Cleft soft palate, Aortic root aneurysm, Patent foramen ovale, High... OMIM:615582
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Abnormality of the dentition, Hypothyroidism, Prima... ORPHA:1227
Transaldolase Deficiency
Hydrops fetalis, Anemia, Coarctation of aorta, Hepatosplenomegaly, Thrombocytopenia, Edema, Atria... ORPHA:101028
Hydrolethalus
Retrognathia, Gingival cleft, Polyhydramnios, Anencephaly, Low-set, posteriorly rotated ears, Low... ORPHA:2189
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple... ORPHA:2470
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Hypoplasia of the ear cartilage, Sple... ORPHA:66661
Crouzon Syndrome
Hearing impairment, Conductive hearing impairment, Optic atrophy, Narrow internal auditory canal ORPHA:207
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Upper limb undergrowth, Adrenal hypoplasia, Nonimmune hydrops fe... OMIM:613124
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Kury-Isidor Syndrome
Widely spaced teeth, Recurrent otitis media, Sacral dimple, Triangular mouth, Scoliosis, High pal... OMIM:619762
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Earring Holes, Natural
Congenital earlobe sinuses OMIM:129000
Treacher Collins Syndrome 3
Microtia, Conductive hearing impairment, Micrognathia, Cleft palate, Hypoplasia of the zygomatic ... OMIM:248390
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Multiple joint dislocation, Dislocated radial head, Microtia, Knee dislocation, Microdontia, Low ... OMIM:245600
Moebius Syndrome
Abnormal pinna morphology, High palate, Abnormality of the dentition, Decreased testicular size, ... OMIM:157900
Myofibrillar Myopathy 10
Ankle flexion contracture, Broad neck, Elbow flexion contracture, Kyphosis, Flexion contracture o... OMIM:619040
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Mixed hearing impairment, Cleft hard palate, Anemia, Polyhydramnios, Delayed eruption of teeth, D... OMIM:300990
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Prominent ear helix, Motor stereotypy, Large earlobe, Multifocal epileptiform dis... ORPHA:411986
Lymphatic Malformation 5
Facial edema, Cleft palate, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153200
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Limitation of joint mobility, Kyphosis, Congenital foot contractures ORPHA:3454
Episodic Ataxia Type 4
Abnormal head movements ORPHA:79136
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Low-set ears, Hy... OMIM:602483
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Microtia, Mandibular prognathia, High palate, Prominent metopic ridge, Hea... OMIM:620475
Solitary Median Maxillary Central Incisor
Cyclopia, Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopit... OMIM:147250
Nabais Sa-De Vries Syndrome, Type 2
Thin vermilion border, Bilateral cleft palate, Microtia, Low-set ears, High palate, Hypothyroidis... OMIM:618829
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Bone pain, Kyphosis, Osteoporosis, Recurrent fractures ORPHA:85193
Lymphedema-Distichiasis Syndrome
Webbed neck, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Kyphosis, Cleft upper ... OMIM:153400
Zimmermann-Laband Syndrome 2
Sensorineural hearing impairment, Gingival overgrowth, Kyphosis, Thick vermilion border, Short ne... OMIM:616455
Pseudopseudohypoparathyroidism
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Pseudohypoparathyroidism, Enamel h... OMIM:612463
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Scoliosis, Ventilator dependence with inability to wean, Respiratory i... ORPHA:254875
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Protruding ear, Scoliosis, Low-set ears, Downturned corners of mouth, Cleft palate, Abnormal hear... OMIM:618571
Distal Deletion 12Q
Kyphoscoliosis, Microtia, Pituitary adenoma, Long philtrum, Patent foramen ovale, Elbow flexion c... ORPHA:96149
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Mandibular prognathia, Narrow mouth, Hearing impairment, C... OMIM:608572
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Sensorineural hearing impairment, Patent foramen ovale, Low-set ears, Bilate... OMIM:618652
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Low-set, posteriorly rotated ears, High palate, Hypoplasia of the ear cartilage, Atr... ORPHA:1035
Trichorhinophalangeal Syndrome, Type Iii
Supernumerary tooth, Protruding ear, Short finger, Short metatarsal, Dental crowding, Scoliosis, ... OMIM:190351
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Meier-Gorlin Syndrome 5
Small earlobe, Microtia, Cryptorchidism, Low-set ears OMIM:613805
Alg8-Cdg
Hydrops fetalis, Anemia, Low-set ears, Ascites, Premature birth, Thrombocytopenia, Intrauterine g... ORPHA:79325
Microcephaly 30, Primary, Autosomal Recessive
Cleft soft palate, Increased nuchal translucency, Uplifted earlobe, Pierre-Robin sequence, Secund... OMIM:620183
Schwartz-Jampel Syndrome
Spinal rigidity, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Abnormally ossified verteb... ORPHA:800
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Ventricular septal defect, Low-set ears, High palate, Macrotia, Micrognathia, Paten... OMIM:618142
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Cryptorchidism, Ectopic posterior... OMIM:610125
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Small earlobe, Cardiomyopathy, Sensorineural hearing impairment ORPHA:98907
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Low posterior hairline, Kyphosis ORPHA:2429
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, High, narrow palate, Cubitus valgus, Low posterior hairline, Hypergonadotro... ORPHA:2183
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Scarf Syndrome
Low-set, posteriorly rotated ears, Webbed neck, Abnormal form of the vertebral bodies, Craniosyno... ORPHA:3134
Tarp Syndrome
Meckel diverticulum, Microtia, Low-set ears, Glossoptosis, Tongue nodules, High palate, Micrognat... OMIM:311900
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Amish Lethal Microcephaly
Optic atrophy, Lissencephaly, Cleft soft palate, Spina bifida ORPHA:99742
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Flexion contracture, Kyphosis OMIM:618237
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Ververi-Brady Syndrome
Transposition of the great arteries, Scoliosis, Low-set ears, High palate, Everted lower lip verm... OMIM:617982
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cleidocranial Dysplasia 1
Spondylolysis, Spondylolisthesis, Short ribs, Kyphosis, Hypoplastic frontal sinuses, Persistent o... OMIM:119600
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Abnormality of the wrist, Genu valgum, Polyhydramnios, Cleft soft palate, Abnorma... ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Rhizomelia, Mandibular prognathia, Low-set ears, Mesomelia, Posteriorly rotated ear... OMIM:612813
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Neutropenia, Dextrocardia, Anemia, Everted lower lip vermilion, Cryptorchidi... OMIM:618067
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Scoliosis, High palate, Congenital hip dislocation, Thoracolumbar scoliosis, Micr... OMIM:114300
Distal Deletion 15Q
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Scoliosis, Kyphosis, Hearing impairment, Biconcave flattened vertebrae, Dentinogene... OMIM:166220
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Short philtrum, Scoliosis, Low-set ears, Hip contracture, Posteriorly rotated ears, Open mouth, S... OMIM:616801
Cree Mental Retardation Syndrome
Webbed neck, Cleft soft palate, Low-set ears, Micrognathia, Aplasia/Hypoplasia of the ribs, Poste... OMIM:606851
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos... ORPHA:2635
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Atlantoaxial instability, Platyspondyly, S... OMIM:184095
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot, Encephalocele ORPHA:217
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Hypertrophic cardiomyopathy, Death in infancy, Dilated cardiomyopathy, Cryptorch... OMIM:618815
Leopard Syndrome 3
Abnormal aortic valve morphology, Cubitus valgus, Webbed neck, Sensorineural hearing impairment, ... OMIM:613707
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre... OMIM:615220
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Lumbar platyspondyly, Intervertebral space narrowing, Abnormal lumbar spine morpholo... ORPHA:166011
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland ORPHA:2762
Hajdu-Cheney Syndrome
Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd... OMIM:102500
Lambotte Syndrome
Atresia of the external auditory canal, Macrotia, Retrognathia OMIM:245552
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Carpal bone hypoplasia, Scoliosis, Delayed ossification of carpal bones, Flat ace... OMIM:184252
49,Xxxxy Syndrome
Chronic otitis media, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular pr... ORPHA:96264
Mosaic Trisomy 8
Abnormal antihelix morphology, Abnormal pinna morphology, Scoliosis, High palate, Vertebral segme... ORPHA:96061
Cog5-Cdg
Retrognathia, Genu valgum, Sensorineural hearing impairment, High palate, Low-set ears, Camptodac... ORPHA:263487
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Supernumerary tooth, Protruding ear, Genu valgum, Low-set, posteriorl... ORPHA:502
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Polycystic o... ORPHA:1770
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Polyhydramnios, Respiratory insufficiency, High palate, Intrauterine growth retarda... OMIM:615330
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Abnormal helix morphology, Abnormal pinna morphology, Cardiomyopathy, Cleft palate,... ORPHA:158687
De Barsy Syndrome
Kyphoscoliosis, Decreased fetal movement, Umbilical hernia, Small, conical teeth, Intrauterine gr... ORPHA:2962
Developmental And Epileptic Encephalopathy 28
Increased nuchal translucency, Micrognathia, Uplifted earlobe, Decreased fetal movement, Long phi... OMIM:616211
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:239500
Ogden Syndrome
Left atrial enlargement, Redundant neck skin, Everted upper lip vermilion, Umbilical hernia, Card... OMIM:300855
Deeah Syndrome
Retrognathia, Death in adolescence, Low posterior hairline, Death in infancy, Long philtrum, Intr... OMIM:619004
Microphthalmia, Syndromic 2
Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral v... OMIM:300166
Syndactyly-Polydactyly-Earlobe Syndrome
Abnormal earlobe morphology OMIM:186350
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrops fetalis, Polyhydramnios, Anencephaly, Short ribs, Low-set ears, Mic... OMIM:616546
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Coarctation of aorta, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Ven... OMIM:620210
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Genu valgum, Relatively short spine, Scoliosis, Long coccyx, Fl... OMIM:156530
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis, Hip contracture, Achilles tendon contracture, Knee flexion co... OMIM:615290
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Broad neck, Low posterior hairline, Pulmonic stenosis, Bifid uvula, Long philtrum, Craniosynostos... OMIM:617506
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Microdontia, Pulmonic stenosis, Bicuspid aortic valve, Short 5th finger, ... OMIM:610759
Scarf Syndrome
Lambdoidal craniosynostosis, Webbed neck, Abnormal form of the vertebral bodies, Hypoplastic nipp... OMIM:312830
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Genu valgum, Upper limb undergrowth, Cervical instabilit... ORPHA:94068
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Cervical myelopathy, Platyspondyly, Limitation of knee mobility, Scoliosi... OMIM:183900
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment, Oligodontia of primary teeth, Cleft soft palate, Agenesi... OMIM:216300
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
6Q16 Microdeletion Syndrome
Microtia, Low-set ears, Abnormal ear morphology ORPHA:171829
Fibrochondrogenesis
Hearing abnormality, Abnormal form of the vertebral bodies, Respiratory insufficiency, Wide anter... ORPHA:2021
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Low-set ears,... OMIM:617412
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Low-set ears, Compulsive behaviors, Repetitive compulsive behavior, Motor stereoty... ORPHA:352490
Cantu Syndrome
Bicuspid aortic valve, Thick lower lip vermilion, Platyspondyly, Patent ductus arteriosus, Cardio... OMIM:239850
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Reduced social reciprocity, Motor stereotypy OMIM:617820
Kagami-Ogata Syndrome
Microtia, Pulmonic stenosis, Splenomegaly, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:608149
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Low-set, posteriorly rotated ears, Short philtrum, Scoliosis, Elbow flexion contracture, Microgna... ORPHA:371364
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Hearing abnormality, Anemia, Rhizomelia, Joint dislocation, Respiratory insu... ORPHA:1842
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Mixed hearing impairment, Sensorineural hearing impairment, Ventricul... ORPHA:51608
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy OMIM:618504
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema, High palate OMIM:613611
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stoma... OMIM:612782
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Overfolded helix, Large fleshy ears, Motor stereotypy OMIM:619092
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Fibular hypoplasia, Wide anterior fontanel, Abnormal pinna morphology, Microtia, Low-set ears, Sh... OMIM:617925
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Osteoarthritis, Platyspondyly, Capitate... OMIM:271650
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Multiple carpal ossification centers, Spina bifida oc... OMIM:150250
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis OMIM:301900
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, Low-set, posteriorly rotated ears, High palate, Multiple suture c... ORPHA:3369
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Bilateral sensorineural hearing impairment, Talon cusp, Micr... OMIM:605282
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Wide anterior fontanel, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:614886
3Q27.3 Microdeletion Syndrome
Small earlobe, Low-set ears ORPHA:397695
Catel-Manzke Syndrome
Glossoptosis, Short metacarpal, Bifid uvula, Short humerus, Umbilical hernia, Intrauterine growth... OMIM:616145
Opitz-Kaveggia Syndrome
Dental crowding, Sensorineural hearing impairment, Intestinal malrotation, Microtia, first degree... OMIM:305450
Fetal Akinesia Deformation Sequence
Polyhydramnios, Pterygium, Respiratory insufficiency, Scoliosis, Intestinal hypoplasia, Camptodac... ORPHA:994
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Spondylolysis, Short ribs, Short metacarpal, Umbilical hernia, Delayed closure of... OMIM:304120
Hyperphosphatasia-Intellectual Disability Syndrome
Single umbilical artery, Aganglionic megacolon, Supernumerary nipple, Short philtrum, Anteriorly ... ORPHA:247262
Atelosteogenesis Type Ii
Bilateral cleft palate, Short ribs, Short metacarpal, Short lower limbs, Long philtrum, Rhizomeli... ORPHA:56304
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Widely spaced teeth, Microtia, Microdontia, Hearing impairment, Hypoplasi... ORPHA:2728
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Mucopolysaccharidosis Type 6
Chronic otitis media, Thick lower lip vermilion, Genu valgum, Abnormal heart valve morphology, Ky... ORPHA:583
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... ORPHA:3352
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Mesomelic arm shortening, Dislocated radial head, Dental crowdi... OMIM:268310
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Microtia, Low-set ears, Atresia of the external auditory canal, Conductive he... OMIM:610536
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 51
Hearing impairment, Caesarian section, Intrauterine growth retardation, Respiratory failure, Neon... OMIM:619057
Xq28 (MECP2) duplication
Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Mucopolysaccharidosis Type 4
Grayish enamel, Genu valgum, Joint dislocation, Abnormal dental enamel morphology, Scoliosis, Hyp... ORPHA:582
Pontocerebellar Hypoplasia, Type 11
Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious b... OMIM:617695
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, High palate, Aortic tortuosity, Thoracic aortic aneurysm OMIM:616166
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Scoliosis OMIM:602271
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Spina bifida, Uplifted earlobe, Posteriorly rotated ears, Smooth philtrum, Short ne... OMIM:620439
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Microdontia, Agenesis of permanent teeth, Long philtrum, Short philtrum, Abnorma... ORPHA:251028
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Low-set ears, Cryptorchidism, Hearing impairment,... OMIM:617159
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Redundant neck skin, Abnormal aortic arch morphology, Microtia, Mis... ORPHA:96334
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Motor stereotypy, EEG abnormality, Bruxism, Aggressive behavior OMIM:619150
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Fg Syndrome Type 1
Small pituitary gland, Sensorineural hearing impairment, Microtia, Dental crowding, Wide mouth, M... ORPHA:93932
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Cleft soft palate, Triangular mouth, Gingival overgrowth, Low-set ears, Abnormalit... OMIM:618529
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Synotia, Abnormal cranial nerve morphology, Low-set, posteriorly rotated ears, Narrow internal au... ORPHA:990
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Attache... ORPHA:1327
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Microtia, Low-set ears, Everted lower lip vermilion, Narrow mouth, Downturned corners of mouth, B... OMIM:618089
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Protein-losing enteropathy, Polyhydramnios, Pancreatic lymphangiectasis, Hig... ORPHA:1655
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Morm Syndrome
Hyperactivity, Retinal atrophy, Aggressive behavior ORPHA:75858
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Downturned corners of mouth, Cleft palate, Ventricular septal defect ORPHA:94066
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Aortic root aneurysm, Low-set ears, Secundum atrial septal d... OMIM:619910
White-Sutton Syndrome
Sensorineural hearing impairment, Bifid uvula, Intrauterine growth retardation, Short philtrum, P... OMIM:616364
Noonan Syndrome 8
Polyhydramnios, Webbed neck, Low-set ears, Pleural effusion, Hypertrophic cardiomyopathy, Cryptor... OMIM:615355
Pelviscapular Dysplasia
Redundant neck skin, Stenosis of the external auditory canal, Abnormal pinna morphology, Elbow fl... ORPHA:93333
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Cardiorespiratory arrest, Craniosynostosis, Hip dislocation, ... ORPHA:3342
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Congenital Heart Block
Peripheral edema, Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, ... ORPHA:60041
Autosomal Recessive Spastic Paraplegia Type 53
Joint hypermobility, Kyphosis ORPHA:319199
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... OMIM:243150
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Delayed eruption of teeth, Small earlobe, Absent earlobe, Low... OMIM:264090
Mass Syndrome
Scoliosis, Ascending aortic dissection, Aortic aneurysm OMIM:604308
Branchioskeletogenital Syndrome
Mixed hearing impairment, Upper limb peromelia, Bifid uvula, Umbilical hernia, Blepharochalasis, ... ORPHA:1299
Li-Ghorbani-Weisz-Hubshman Syndrome
Low-set ears, Downturned corners of mouth, Thick vermilion border, Patent ductus arteriosus, Atri... OMIM:618974
Maple Syrup Urine Disease
Abnormality of the pharynx ORPHA:511
Orofaciodigital Syndrome Iii
Supernumerary tooth, Low-set ears, Microdontia, Kyphosis, Short sternum, Bifid uvula, Tongue nodu... OMIM:258850
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Low-set, posteriorly rotated ears, Mandibular prognathia, Mesomelia, Posteriorly rota... ORPHA:171866
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Decreased fetal movement, Normocytic anemia, Polyhydramnios, Limitation of knee m... OMIM:618947
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Hypoplastic acetabulae, Scoliosis, Limitation of joint ... OMIM:607326
Non-Distal Duplication 13Q
Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Abnormal antihelix morphology ORPHA:1702
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Limb undergrowth, Splenomegaly ORPHA:2204
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Widely spaced teeth, Short philtrum, Microtia, High palate, Low-... OMIM:612530
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Tetralogy Of Fallot
Thin vermilion border, Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Carpal bone hypoplasia, Craniosynostosis, Microtia, Scoliosis, Low-set e... OMIM:616723
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d... ORPHA:90650
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Glossoptosis OMIM:614876
Intellectual Developmental Disorder, Autosomal Dominant 73
Retrognathia, Microtia, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Broad philtrum, Axi... OMIM:620450
Parenti-Mignot Neurodevelopmental Syndrome
Low-set ears, Microtia, Posteriorly rotated ears, Cupped ear OMIM:619873
Giant Cell Arteritis
Mediastinal lymphadenopathy, Diabetes insipidus, Glossitis, Arthritis, Vasculitis, Vertigo, Doubl... ORPHA:397
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Thin vermilion border, Sensorineural hearing impairment, Gingival overgrowth, Mandi... OMIM:212066
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Hydrops Fetalis
Abnormality of the neck, Polyhydramnios, Miscarriage, Abnormality of the lymphatic system, Lymphe... ORPHA:1041
Stickler Syndrome, Type I
Beaking of vertebral bodies, Spondylolisthesis, Sensorineural hearing impairment, Scoliosis, Arth... OMIM:108300
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Chorioretinal coloboma, Cryptorchidism, Iris coloboma ORPHA:139471
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Increased nuchal translucency, Joint stiffness, P... ORPHA:2655
Schimke Immuno-Osseous Dysplasia
Arteriosclerosis of small cerebral arteries, Abnormal intestine morphology, Microdontia, Bone mar... ORPHA:1830
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Laryngomalacia, Ventricular septal defect, Persistence of hemoglobin F, Persistence of primary te... OMIM:619769
Gorham-Stout Disease
Hearing impairment, Abnormality of the internal auditory canal ORPHA:73
Femoral-Facial Syndrome
Orofacial cleft, Maternal diabetes, Scoliosis, Vertebral segmentation defect, Microtia, Low-set e... ORPHA:1988
Thanatophoric Dysplasia Type 2
Encephalocele, Limitation of joint mobility, Kyphosis, Increased nuchal translucency, Patent duct... ORPHA:93274
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad neck, Small earlobe, Microtia, Low-set ears, Ventricular septal defect, Posteriorly rotated... OMIM:619522
Dubowitz Syndrome
Wide mouth, Intrauterine growth retardation, Craniosynostosis, Sacral dimple, Low-set, posteriorl... ORPHA:235
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Microdontia, Aortic valve stenosis, Intrauterine growth ret... OMIM:607095
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Everted lower lip vermilion, Wide mouth, Transposition of the great arteries, Short philtrum, Pul... OMIM:280000
Anencephaly 2
Anophthalmia OMIM:619452
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Hearing impairment, Hypogonadism, Patent ductus arteriosus... OMIM:615996
Dworschak-Punetha Neurodevelopmental Syndrome
Large earlobe, Short neck, Dilation of Virchow-Robin spaces, Cupped ear OMIM:619955
Braddock-Carey Syndrome 1
Hyperlordosis, Everted lower lip vermilion, Macrotia, Enamel hypoplasia, Cleft palate, Thrombocyt... OMIM:619980
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wormian bones, Platyspondyly OMIM:601356
Noonan Syndrome 10
Cubitus valgus, Webbed neck, Scoliosis, High palate, Low-set ears, Hypertrophic cardiomyopathy, I... OMIM:616564
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Missing ribs, Clef... ORPHA:1797
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low posterior hairline, Recurrent sinusitis, Decreased fetal movement, Craniosynostosis, Decrease... OMIM:213980
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft palate, Abnormal aortic morphology, Intestinal malrotation, Micrognathia, Hypopla... ORPHA:2001
Noonan Syndrome 6
Single umbilical artery, Juvenile myelomonocytic leukemia, Polyhydramnios, Webbed neck, Sensorine... OMIM:613224
Chromosome 18P Deletion Syndrome
Redundant neck skin, Tooth malposition, High palate, Decreased testicular size, Macrotia, Microgn... OMIM:146390
Klippel-Trénaunay Syndrome
Hydrops fetalis, Abnormal tricuspid valve morphology, Venous insufficiency, Respiratory insuffici... ORPHA:90308
Cousin Syndrome
Dislocated radial head, Wrist flexion contracture, Anterior rounding of vertebral bodies, Microti... OMIM:260660
Down Syndrome
Delayed puberty, Broad neck, Round ear, Microdontia, Umbilical hernia, Narrow palate, Aganglionic... ORPHA:870
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Craniosynostosis, Thickened nuchal skin fold, Micrognathia, Knee flexi... ORPHA:284417
Noonan Syndrome 7
Cubitus valgus, Webbed neck, Scoliosis, Low-set ears, Abnormal esophagus morphology, Low posterio... OMIM:613706
Igg4-Related Ophthalmic Disease
Abnormality of infra-orbital nerve, Abnormality of the sphenoid sinus, Sialadenitis, Sinusitis, C... ORPHA:449563
Man1B1-Cdg
Short philtrum, Low-set ears, Eclabion, Macrotia, Thick vermilion border, Malar flattening, Smoot... ORPHA:397941
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Underfolded hel... OMIM:157980
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Aortic valve stenosis, Pulmonary ar... OMIM:615067
Kapur-Toriello Syndrome
Polymicrogyria, Low-set ears, Atresia of the external auditory canal, Posteriorly rotated ears, P... ORPHA:2328
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Abnormal tricuspid valve leaflet morphology, Bacterial ... ORPHA:99095
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Adrenal hyperplasia, A... ORPHA:79500
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Low-set ears, Median cleft palate, Hypoplasia of the ma... OMIM:136760
Flynn-Aird Syndrome
Joint stiffness, Scoliosis, Atherosclerosis, Kyphosis ORPHA:2047
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Short attention span, Abnormal so... ORPHA:444002
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Radio-Renal Syndrome
Retrognathia, High, narrow palate, Hypoplasia of the radius, Abnormal form of the vertebral bodie... ORPHA:3015
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Anemia, Ascites, Premature birth, Thrombocytopenia, Patent ductu... ORPHA:2123
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Generalized joint hypermobility, Multiple joint dislocation, Genu valgum, Platysp... ORPHA:93360
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... OMIM:618729
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, High, narrow palate, Thick lower lip vermilion, Short philtrum, Webbed neck, Vert... OMIM:309583
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Microtia, Hearing impairment, Micrognathia, Submucous cleft soft palate, Paten... ORPHA:2282
Diamond-Blackfan Anemia 7
Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Scoliosis, Esophagi... OMIM:612562
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal testis morphology, Low posterior hairline, Mitral valve prolapse, Hypogonad... ORPHA:2233
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Posteriorly rotated ears, Pa... OMIM:613870
Dysosteosclerosis
Optic atrophy, Delayed eruption of teeth, Abnormal cranial nerve morphology, Abnormal dental enam... ORPHA:1782
Typical Nemaline Myopathy
Spinal rigidity, Genu valgum, Polyhydramnios, Respiratory insufficiency, Scoliosis, Hyperlordosis... ORPHA:171436
Desbuquois Dysplasia 1
Hyperlordosis, Flat acetabular roof, Kyphosis, Long philtrum, Intrauterine growth retardation, Ge... OMIM:251450
Combined Oxidative Phosphorylation Defect Type 27
Hearing impairment, Nonimmune hydrops fetalis ORPHA:477774
Autosomal Dominant Robinow Syndrome
Retrognathia, Abnormal form of the vertebral bodies, Umbilical hernia, Long philtrum, Anodontia, ... ORPHA:3107
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hypermobility, Cubitus valgus, Kyphosis ORPHA:1875
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Narrow mouth, High palate, Low-set ears, Micrognathia, Cleft palate, Posteri... OMIM:156610
Noonan Syndrome 14
Limited elbow extension, High, narrow palate, Polyhydramnios, Cubitus valgus, Webbed neck, Low-se... OMIM:619745
Rothmund-Thomson Syndrome, Type 2
Kyphoscoliosis, Microdontia, Agenesis of permanent teeth, Hypogonadism, Cryptorchidism, Short pal... OMIM:268400
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Microtia, Neonatal death OMIM:619817
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Acute leukemia, Lymphadenopathy, Abnormal neutrophil count, Sensorineural h... ORPHA:3226
X-Linked Intellectual Disability, Nascimento Type
Thin vermilion border, Abnormal vena cava morphology, Patent foramen ovale, Lower extremity joint... ORPHA:163956
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Microdontia, Death in infancy, Wide mouth, M... OMIM:259775
Cardiofaciocutaneous Syndrome 1
Low posterior hairline, Pulmonic stenosis, Premature birth, Splenomegaly, Scoliosis, Abnormality ... OMIM:115150
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Aplasia of the epiglottis, Low-set, posteriorly rotated ears, Webbed neck, V... ORPHA:434179
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Avascular necrosis, Delayed eruption of teeth, Genu recurvatum, Scol... ORPHA:137834
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Abnormal vertebral morphology, Generalized bone demineralization, Vert... ORPHA:93352
Isolated Anencephaly
Congenital diaphragmatic hernia, Maternal diabetes, Adrenal hypoplasia, Thymus hyperplasia, Cleft... ORPHA:563609
Christianson Syndrome
Macrotia, Inappropriate laughter, Dysphagia, Motor stereotypy ORPHA:85278
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Thick lower lip vermilion, Broad neck, Platyspondyly, Cubitus valgus, Ant... OMIM:611717
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Van Den Ende-Gupta Syndrome
Laryngomalacia, Small earlobe, Posteriorly rotated ears, Protruding ear, Overfolded helix OMIM:600920
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Cervical instability, Delayed oss... ORPHA:93346
Orofaciodigital Syndrome V
Aganglionic megacolon, Scoliosis, Low-set ears, High palate, Ankyloglossia, Unilateral cryptorchi... OMIM:174300
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Short philtrum, Aortic root aneurysm, Scoliosis, Cryptorchidism, Open mouth, Protruding ear, Atri... OMIM:301039
Autosomal Recessive Stickler Syndrome
Platyspondyly, Joint hypermobility, Genu valgum, Irregular vertebral endplates ORPHA:250984
Isolated Cleft Lip
Chronic otitis media, Situs inversus totalis, Supernumerary maxillary incisor, Polyhydramnios, Ab... ORPHA:199302
Nemaline Myopathy 8
Polyhydramnios, Death in infancy, Decreased fetal movement, Respiratory failure, Fetal akinesia s... OMIM:615348
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis, Anemia OMIM:236750
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Scoliosis, Low-set ears, Cleft upper lip, Ventricular sept... OMIM:601357
Maternal Uniparental Disomy Of Chromosome X
Thin vermilion border, Cubitus valgus, Predominantly lower limb lymphedema, Scoliosis, Low poster... ORPHA:261519
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Darwin tubercle of helix, Unilateral cleft palate, Six lumbar vertebrae, Mi... OMIM:619122
Oliver Syndrome
Small earlobe, Absent earlobe, Supernumerary nipple ORPHA:2920
Intellectual Developmental Disorder, Autosomal Recessive 35
Microtia, Low-set ears, Everted lower lip vermilion, Downturned corners of mouth, Micrognathia, L... OMIM:615162
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Death in infancy, Hearing impairment, Respiratory failure, Ventricul... OMIM:616277
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle... ORPHA:266
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Knee flexion contracture, Respiratory insufficiency, Scoliosis, Elbow flexion c... OMIM:616266
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short finger, Wormian bones, Thoracic kyphosis, Low-set ears, High palate, Hypopl... OMIM:300232
Thakker-Donnai Syndrome
Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Webbed neck, Rectovaginal f... ORPHA:1780
Saethre-Chotzen Syndrome
Narrow palate, Abnormal form of the vertebral bodies, Abnormal antihelix morphology, Proximal rad... ORPHA:794
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, ... OMIM:619227
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Scoliosis, Delayed ossification of carpal bones, Flat acetabular roo... OMIM:609616
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short philtrum, Scoliosis, Low-set ears, Abnormality of the dentition, Kyphosis, Cleft palate, Sm... ORPHA:261190
Distal Deletion 3P
Abnormal vestibulo-ocular reflex, Thin vermilion border, Sacral dimple, Atrioventricular canal de... ORPHA:1620
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Caudal interpedicular narrowing, Wind-swept deformity of the knees, Carpal bone hypoplasia, Genu ... OMIM:603546
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Atresia of the external auditory canal, Conductive hearing impairment, Mi... OMIM:602471
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Erythroid hyperplasia, Anemia, Respiratory insufficiency, Extramedullary hematopoiesis, Increased... OMIM:617021
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal tragus morphology, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes... ORPHA:1968
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Microtia, Micrognathia, Cleft palate, Craniosynostosis ORPHA:2145
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Retrognathia, Abnormal circulating calcium-phosphate regulating hormone concentration, Aplasia/hy... ORPHA:2636
Chromosome 17P13.1 Deletion Syndrome
Decreased fetal movement, High, narrow palate, Broad neck, Sacral dimple, Short philtrum, Webbed ... OMIM:613776
Tetrasomy 5P
Redundant neck skin, Short hallux, Wide anterior fontanel, High palate, Low-set ears, Micrognathi... ORPHA:3309
Chromosome 16P13.3 Duplication Syndrome
Microtia, Microdontia, Bifid uvula, Wide mouth, Long philtrum, Hip dislocation, Sacral dimple, Cr... OMIM:613458
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Motor stereotypy, Aggressive behavior OMIM:619470
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Genu valgum, Scoliosis, Hyperlordosis, Kyphosis, Osteoporosis, Joint stiffne... OMIM:253010
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, Scoliosis, High palate, Dextrotransposition of the great arteries, Ankle ... OMIM:619995
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Microtia, Low-set ears OMIM:620535
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, Delayed umbilical cord separation, Scoliosis, High palate, Persistence of pr... OMIM:619752
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Kyphoscoliosis, Hyperlordosis, Short metacarpal, Abnormality of the ear, Craniosynostosis, Thorac... ORPHA:457395
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Low posterior hairline, Pulmonic stenosis, Enamel hypoplasia, Macro... OMIM:615802
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Laryngomalacia, Intestinal malrotation, Downtur... ORPHA:457193
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Microtia, Low-set ears ORPHA:357175
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Sensorineural hearing impairment, Microdontia, Kyphosis, Wide mouth, Oligohydramnio... OMIM:619194
Costello Syndrome
Limited elbow movement, Redundant neck skin, Pulmonic stenosis, Premature birth, Mitral valve pro... OMIM:218040
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Scoliosis, Short neck, Diabete... OMIM:616033
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Anemia, Microtia, Bone marrow hypocellular... OMIM:603467
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly, Hearing impairment, Wide mouth, Posteriorly rotated ears, Prominent antihelix,... ORPHA:466950
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Aase-Smith Syndrome I
Abnormal pinna morphology, Death in infancy, Cleft palate, Open mouth, Ventricular septal defect OMIM:147800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Absent cupid's bow, Ventricular hypertrophy, Celiac disease, Pulmonic stenosis, Hearing impairmen... ORPHA:284169
Hajdu-Cheney Syndrome
Delayed puberty, Partial absence of toe, Kyphosis, Intestinal malrotation, Biconcave vertebral bo... ORPHA:955
Paganini-Miozzo Syndrome
Low-set ears, Microtia, Posteriorly rotated ears OMIM:301025
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Retrognathia, Low posterior hairline, Aortic valve stenosis, Splenomegaly, Bicuspid aortic valve,... OMIM:613563
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Single umbilical artery, Pterygium, Respiratory insufficiency, Narrow mo... OMIM:224410
Trisomy 8P
Retrognathia, Abnormal middle ear morphology, Low posterior hairline, Aplasia/Hypoplasia of the t... ORPHA:264450
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hearing impairment, Motor stereotypy, EEG abnormality OMIM:610883
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Occipital encephalocele, Aplasia of the epiglottis, Atrial septal defect, Sh... OMIM:615948
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Coronary artery fistula, Patent ... OMIM:619343
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Macrotia, Umbilical hernia, Cryptorchidi... ORPHA:1555
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Megaloblastic anemia, Stroke, Diabetes mellitus, Thrombocytopen... ORPHA:49827
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Scoliosis, Kyphosis, Umbilical hernia, Joint hypermobility ORPHA:2181
Mucopolysaccharidosis, Type Ii
Thick lower lip vermilion, Widely spaced teeth, Recurrent otitis media, Intestinal pseudo-obstruc... OMIM:309900
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Limitation of joint mobility OMIM:619598
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Sensorineural hearing impairment, Cleft palate, Cleft lip, Cryptorchidism, Hypogonadotropic hypog... OMIM:612370
Hallermann-Streiff Syndrome
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Scoliosis, Select... OMIM:234100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Sensorineural hearing impairment, Stroke, Cardiomyopathy, Cryptorchidism,... OMIM:249270
Epilepsy With Eyelid Myoclonia
EEG with spike-wave complexes, Continuous spike and waves during slow sleep, Interictal epileptif... ORPHA:139431
2Q31.1 Microdeletion Syndrome
Thin vermilion border, Short foot, Scoliosis, Vertebral segmentation defect, Low-set ears, Everte... ORPHA:251014
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Atrial septal defect, Congenital muscular torticollis, Wide anterior fonta... ORPHA:457279
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Polyhydramnios, Rhizomelia, Severe limb shortening, Short ribs, Low-set ears, Flat ac... OMIM:151210
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Suleiman-El-Hattab Syndrome
Long philtrum, Thick lower lip vermilion, Patent foramen ovale, Low-set ears, High palate, Crypto... OMIM:618950
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Motor... OMIM:600430
N-Acetylaspartate Deficiency
Self-mutilation, Motor stereotypy OMIM:614063
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Dextrocardia, Pancytopenia, Megaloblastic anemia, Microtia, Low-set ears, Thrombocytopeni... OMIM:277380
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Limited elbow extension, Atrial septal defect, Increased vertebral height, Platyspondyly, Disloca... OMIM:620663
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Prominent metopic ridge ORPHA:85317
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Polyhydramnios, Tetralogy of Fallot, Throm... OMIM:618624
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Death in childhood, Cardiomyopathy, Kyphosis, Hypergonadotropic hypogonadism, Hypoth... OMIM:212065
3P25.3 Microdeletion Syndrome
High, narrow palate, Knee flexion contracture, Coronary artery atherosclerosis, Short philtrum, S... ORPHA:435638
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Short philtrum, High palate, Cryptorchidism, Precocious pubert... ORPHA:3306
Bruck Syndrome 2
Osteopenia, Pterygium, Wormian bones, Elbow flexion contracture, Flexion contracture, Knee flexio... OMIM:609220
Three M Syndrome 3
Protruding ear, Increased vertebral height, Hyperlordosis, Thick vermilion border, Long philtrum,... OMIM:614205
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia OMIM:620137
Holt-Oram Syndrome
Scoliosis, Abnormal aortic morphology, Kyphosis, Joint stiffness, Radioulnar synostosis, Patent d... ORPHA:392
Chromosome 15Q25 Deletion Syndrome
Thin vermilion border, Dextrocardia, Webbed neck, Macrocytic anemia, Coronary artery fistula, Low... OMIM:614294
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Broad neck, Rhizomelia, Low-set, posteriorly rotated ears, M... ORPHA:263508
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608049
Craniofacioskeletal Syndrome
Interrupted aortic arch, Microtia, Cryptorchidism, Posteriorly rotated ears, Patent ductus arteri... OMIM:300712
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Death in adolescence, Fetal chylothorax, Fetal pericardial effusion, ... OMIM:620014
Orofaciodigital Syndrome I
Myelomeningocele, Abnormal heart morphology, Ovarian cyst, Tongue nodules, Alveolar ridge overgro... OMIM:311200
Tetrasomy 12P
Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Anal atr... ORPHA:884
Nager Syndrome
Abnormal palate morphology, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip... ORPHA:245
W Syndrome
Hypoplasia of the ulna, Cubitus valgus, Upper lip pit, Submucous cleft hard palate, Elbow disloca... ORPHA:2804
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Microtia, Cardiomyopathy, Hypergonadotropic hypogonadism OMIM:212112
X-Linked Intellectual Disability, Cabezas Type
Thick lower lip vermilion, Cubitus valgus, Abnormal earlobe morphology, Short philtrum, Scoliosis... ORPHA:85293
Developmental And Epileptic Encephalopathy 110
Macrotia, Bruxism, Low-set ears, Continuous spike and waves during slow sleep OMIM:620149
Eec Syndrome
Orofacial cleft, Decreased response to growth hormone stimulation test, Anterior hypopituitarism,... ORPHA:1896
8Q21.11 Microdeletion Syndrome
Short philtrum, Exaggerated cupid's bow, High palate, Abnormality of the dentition, Narrow mouth,... ORPHA:284160
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Osteoporosis, Delayed skeletal maturation, Abnormality o... ORPHA:319195
Desmosterolosis
Abnormal cortical gyration, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hydro... ORPHA:35107
Cleidocranial Dysplasia 2
Supernumerary tooth, Genu valgum, Wide anterior fontanel, Delayed ossification of carpal bones, S... OMIM:620099
7Q11.23 Microduplication Syndrome
Chronic otitis media, Retrognathia, Abnormal earlobe morphology, Aortic valve stenosis, Craniosyn... ORPHA:96121
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hydrops fetalis, Anemia, Cholelithiasis, Pleural effusion,... ORPHA:846
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... OMIM:618027
Proteus-Like Syndrome
Venous insufficiency, Open bite, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormalit... ORPHA:2969
Char Syndrome
Triangular mouth, Short philtrum, Symphalangism of the 5th finger, Everted lower lip vermilion, P... ORPHA:46627
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Sensorineural hearing impairment, Flat acetabular roof, Short distal p... OMIM:271700
Osteoglosphonic Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Scoliosis, Tooth agenesis, Multiple unerupted ... ORPHA:2645
Pseudoachondroplasia
Beaking of vertebral bodies, Limited elbow extension, Carpal bone hypoplasia, Genu valgum, Delaye... OMIM:177170
Geroderma Osteodysplastica
Beaking of vertebral bodies, Abnormal bone ossification, Vertebral compression fracture, Abnormal... ORPHA:2078
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti... ORPHA:1020
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy OMIM:616351
Yunis-Varon Syndrome
Redundant neck skin, Absent sternal ossification, Broad alveolar ridges, Microtia, Small earlobe,... OMIM:216340
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Low-set ears, Abnormali... ORPHA:899
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Delayed pubic bone ossification, Ovoid vertebral bodies, Platyspondyly, ... ORPHA:1856
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Scoliosis, Gray matter heterotopia, Atresia of the ex... OMIM:601390
Chromosome 8Q21.11 Deletion Syndrome
Short philtrum, Sensorineural hearing impairment, Exaggerated cupid's bow, High palate, Low-set e... OMIM:614230
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Respiratory insufficien... ORPHA:140
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Thick upper lip... ORPHA:2563
Joubert Syndrome 14
Optic atrophy, Encephalocele, Meningocele, Short philtrum, Hydrocephalus, Low-set ears, Cleft pal... OMIM:614424
Witteveen-Kolk Syndrome
Sensorineural hearing impairment, Intrauterine growth retardation, Long philtrum, Thickened helic... OMIM:613406
Parietal Foramina With Cleidocranial Dysplasia
Microtia OMIM:168550
Jacobsen Syndrome
Annular pancreas, Low-set, posteriorly rotated ears, Webbed neck, Aplasia/Hypoplasia of the earlo... ORPHA:2308
8Q12 Microduplication Syndrome
Sensorineural hearing impairment, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atria... ORPHA:228399
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Holoprosencephaly 14
Aortic valve atresia, Low-set ears, Macrotia, Cleft palate, Double outlet right ventricle, Cleft ... OMIM:619895
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy, Abnormal speech di... ORPHA:397612
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ears, Dysphagi... OMIM:617802
Stickler Syndrome Type 1
Platyspondyly, Joint hypermobility, Abnormal vertebral epiphysis morphology, Osteoarthritis ORPHA:90653
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral compression fracture, Joint hypermobility, Delayed epiphyseal ossification, Scoliosis, ... OMIM:602557
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dental crowding, Broad neck, Short neck ORPHA:320385
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Large earlobe OMIM:620317
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Esophageal atresia, Rectovaginal fistula, Congenital muscular tortico... ORPHA:2538
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Delayed skeletal maturation, Wormian bones, Thoracic kyphosis OMIM:619638
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Increased susceptibility to fractures, Osteopenia, Platyspondyly, Aortic root ane... OMIM:615349
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Scoliosis, Hyperlordosis, Vertebral segmentation defe... OMIM:272460
Neu-Laxova Syndrome 1
Broad neck, Swollen lip, Decreased fetal movement, Intrauterine growth retardation, Transposition... OMIM:256520
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Kyphosis, Persistent open anterior fontanelle, A... ORPHA:763
Heart-Hand Syndrome Type 2
Anterior creases of earlobe, Cryptorchidism, Low posterior hairline ORPHA:1350
20Q13.33 Microdeletion Syndrome
Thin vermilion border, Dilation of Virchow-Robin spaces, Low-set, posteriorly rotated ears, Hypop... ORPHA:261311
Spondylometaphyseal Dysplasia, Kozlowski Type
Carpal bone hypoplasia, Abnormality of the vertebral column, Vertebral wedging, Increased interve... ORPHA:93314
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr... ORPHA:231160
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Decreased fetal movement, Death in childhood, Breech presentation, Chylothorax, Mandibular progna... OMIM:620278
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Flexion contracture of finger, Flexion contracture, Arthrogr... OMIM:618484
Noonan Syndrome 9
Webbed neck, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta, Short neck, Cryp... OMIM:616559
Cornelia De Lange Syndrome 1
Dislocated radial head, Sensorineural hearing impairment, Low posterior hairline, Malrotation of ... OMIM:122470
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Osteoporo... OMIM:617190
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Genu valgum, Fixed elbow flexion, Rhizomelia, Dislocated r... ORPHA:166016
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Esophageal atresia, Lumbar hemivertebrae, Low-set ears, Tracheoesophageal fistula... OMIM:619859
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Frontometaphyseal Dysplasia 1
Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... OMIM:305620
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... ORPHA:1724
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Low-set ears, EEG abnormality, Recurrent hand flapping, Pica OMIM:618480
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Chronic otitis media, High, narrow palate, Protruding ear, Sacral dimple, Prominent protruding co... OMIM:300966
Opsismodysplasia
Polyhydramnios, Rhizomelia, Respiratory insufficiency, Scoliosis, Low-set ears, Flat acetabular r... OMIM:258480
Nance-Horan Syndrome
Supernumerary tooth, Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Protr... ORPHA:627
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Dislocated radial head, Dental crowding, Mesomelia, Umbilical hernia, Long philtrum... OMIM:180700
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Kyphosis, Tooth agenesis... ORPHA:818
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Decreased fetal movement, Polyhydramnios, Patent foramen ovale, Premature birth, Patent ductus ar... OMIM:616867
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Protruding ear, Scoliosis, Patent foramen ovale, Low-set ears, Cryptorchidism, Macrotia, Downturn... ORPHA:329224
Arthrogryposis, Distal, Type 5D
Limited elbow movement, Scoliosis, Hyperlordosis, Narrow mouth, Furrowed tongue, Elbow flexion co... OMIM:615065
Stuve-Wiedemann Syndrome 1
Death in infancy, Intrauterine growth retardation, Oligohydramnios, Pursed lips, Scoliosis, Elbow... OMIM:601559
Spastic Paraplegia 53, Autosomal Recessive
Joint hypermobility, Kyphosis OMIM:614898
Orofaciodigital Syndrome Type 10
Metatarsal synostosis, Retrognathia, Fibular aplasia, Tarsal synostosis, Mesomelic arm shortening... ORPHA:2756
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Dental crowding, Ascending tubular aorta aneurysm, Low-set ears, High palate, Hyp... OMIM:309520
Mosaic Variegated Aneuploidy Syndrome 1
Triangular mouth, Low-set ears, Pulmonic stenosis, Short sternum, Micrognathia, Cleft palate, Pos... OMIM:257300
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cerebrofaciothoracic Dysplasia
Polyhydramnios, Low-set, posteriorly rotated ears, Scoliosis, Hemivertebrae, Vertebral segmentati... ORPHA:1394
Combined Oxidative Phosphorylation Deficiency 57
Central diabetes insipidus, Diabetes insipidus, Sensorineural hearing impairment, Hypertrophic ca... OMIM:620167
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Ulbright-Hodes Syndrome
Abnormal pinna morphology, Short ribs, Severe intrauterine growth retardation, Short metacarpal, ... ORPHA:3404
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Small earlobe, Cryptorchidism, Low-set ears OMIM:620083
Ck Syndrome
Joint hypermobility, Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Dysostosis, Stanescu Type
Abnormal palate morphology, Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Abnormal... ORPHA:1798
Müllerian Aplasia And Hyperandrogenism
Cubitus valgus, Increased serum testosterone level, Short philtrum, Abnormality of the ovary, Cle... ORPHA:247768
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Recurrent otitis media, Breech presentation, Rhizomelia, Wide anterior fontanel, Kyphosis, Hearin... OMIM:616482
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Polyhydramnios, Death in infancy OMIM:225753
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Dental crowding, Broad neck, Short neck OMIM:615031
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta, Osteo... ORPHA:2396
Leopard Syndrome 1
Kyphoscoliosis, Delayed puberty, Limited elbow movement, Hypoplasia of the ovary, Sensorineural h... OMIM:151100
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Fused cervical v... OMIM:609053
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate, Overfolded helix ORPHA:209908
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Multiple joint dislocation, Small pituitary gland, Dental crowding, Hyperlo... OMIM:619503
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Polyhydramnios, Decreased fetal movement OMIM:616794
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Hearing impairment, Neonatal dea... OMIM:245400
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Aplasia of the epiglottis, Atrioventricular canal defect, Polyhydramnios, Sh... OMIM:617088
Chung-Jansen Syndrome
Large earlobe, Macrotia, Cryptorchidism, Laryngeal cleft OMIM:617991
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele OMIM:218670
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microtia, Wide mouth, Prominent tragus, Rectovestibular fistula, Thin lower lip vermilion, Patent... ORPHA:280633
Ogden Syndrome
High, narrow palate, Everted upper lip vermilion, Delayed cranial suture closure, Scoliosis, Low-... ORPHA:276432
Cardiofaciocutaneous Syndrome
Atrial septal defect, Genu valgum, Cubitus valgus, Low-set, posteriorly rotated ears, Webbed neck... ORPHA:1340
Kinsship Syndrome
Dislocated radial head, Death in infancy, Respiratory arrest, Mesomelia, Wide mouth, Hip dislocat... OMIM:619297
Monosomy 9Q22.3
Orofacial cleft, Thickened ears, Odontogenic keratocysts of the jaw, Delayed eruption of teeth, A... ORPHA:77301
Arthrogryposis, Distal, Type 4
Osteopenia, Torticollis, Camptodactyly of 2nd-5th fingers, Scoliosis, Low posterior hairline, Kyp... OMIM:609128
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Arthritis, Scoliosis, Ascending tubular aorta aneurysm, Ascending aortic di... OMIM:619825
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Aortic root aneurysm, Scoliosis, Kyphosis, Prominent metopic ri... OMIM:610443
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal carpal morphology, Genu valgum, Limitation of joint mobility, Synostosis of carpal bones... ORPHA:93351
Restrictive Dermopathy 1
Kyphoscoliosis, Temporomandibular joint ankylosis, Premature birth, Decreased fetal movement, Int... OMIM:275210
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Premature birth, Absent thumb, ... OMIM:105650
Hsd10 Disease
Dysphagia, Short attention span, Abnormal social behavior ORPHA:391417
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Hearing impairment, Microtia, Low-set ears OMIM:619056
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Breech presentation, Dislocated radial head... OMIM:143095
Noonan Syndrome 1
Kyphoscoliosis, Sensorineural hearing impairment, Low posterior hairline, Pulmonic stenosis, Hypo... OMIM:163950
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Micrognathia, Cleft palate, Nonimmune hydrops fetalis, Craniosynostosis OMIM:618265
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Delayed eruption ... OMIM:103580
Odontochondrodysplasia 1
Biconvex vertebral bodies, Delayed eruption of teeth, Genu recurvatum, Scoliosis, Delayed ossific... OMIM:184260
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Microtia, Intestinal malrotation, Bifid uvula, Delayed closure of the anterior f... OMIM:300373
Intellectual Developmental Disorder, Autosomal Dominant 43
Short philtrum, Increased overbite, Attached earlobe, Microtia, Gingival overgrowth, High palate,... OMIM:616977
Autosomal Recessive Multiple Pterygium Syndrome
Low posterior hairline, Hypogonadism, Umbilical hernia, Long philtrum, Intrauterine growth retard... ORPHA:2990
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Scoliosis, Irregular acetabular roof, Irregular vertebral endplates, Distal tibial b... OMIM:156500
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Microtia, Oligodontia, Micrognathia, Posteriorly rotated ears, Wide mouth... OMIM:602562
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flexion contracture, Osteopenia ORPHA:157965
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Short philtrum, Dental crowding, Scoliosis, Oligodontia, High palate, Kyphosis, Mac... OMIM:617061
Chromosome 1P35 Deletion Syndrome
Sensorineural hearing impairment, Congenital hypothyroidism, Hearing impairment, Posteriorly rota... OMIM:617930
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Self-injurious behavior, Motor stereotypy OMIM:619690
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Hurler Syndrome
Recurrent otitis media, Short clavicles, Gingival overgrowth, Cardiomyopathy, Microdontia, Kyphos... OMIM:607014
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Low-set ears, Laryngeal hypoplasia, Bifid uvula, Aplasia/Hypoplasia of the tongue, ... ORPHA:1790
Farber Disease
Short finger, Abnormality of the wrist, Anemia, Lymphadenopathy, Hydrops fetalis, Respiratory ins... ORPHA:333
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Temporomandibular joint ankylosis, Cardiomyopathy, Abnormal mit... ORPHA:217085
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Osteoporosis, Platyspondyly, Recurrent fractures OMIM:126550
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Retrognathia, Narrow mouth, High palate, Low-set ears, Micrognathia, Cleft palate, Protruding ear... OMIM:301091
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, 11 pairs of ribs, Res... ORPHA:488632
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Iris coloboma ORPHA:77298
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Macrotia, Mulberry molar, Diastema OMIM:302350
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus art... OMIM:616276
Ollier Disease
Platyspondyly, Joint stiffness, Bone pain, Osteolysis ORPHA:296
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster... OMIM:617751
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Posteriorly rotated ears OMIM:300887
Thanatophoric Dysplasia, Type I
Decreased fetal movement, Polyhydramnios, Breech presentation, Short ribs, 5-minute APGAR score o... OMIM:187600
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Polyhydramnios, Rhizomelia, Abnormal pinna morphology, Scoliosis, Hemivertebrae, ... OMIM:302960
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Self-mutilation, Motor stereotypy ORPHA:457240
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Prominent antihelix, Motor stereotypy OMIM:617807
Ohdo Syndrome
Thin vermilion border, Widely spaced teeth, Stenosis of the external auditory canal, Microtia, Na... OMIM:249620
Ellis Van Creveld Syndrome
Microdontia, Abnormal oral frenulum morphology, Intrauterine growth retardation, Short distal pha... ORPHA:289
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Abnormal heart morphology, C... OMIM:114290
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Delayed pubic bone ossification, Scoliosis, Hyperlordosis, Hypoplasia of the odontoi... OMIM:184250
Autosomal Recessive Omodysplasia
Rhizomelia, Pterygium, Elbow dislocation, Low-set ears, Increased nuchal translucency, Micromelia... ORPHA:93329
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Depression, Hyperactivity, Recurrent hand flapping, Short... ORPHA:449291
Neu-Laxova Syndrome
Decreased fetal movement, Retrognathia, Polyhydramnios, Pterygium, Abnormality of the philtrum, S... ORPHA:2671
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Low-set ears, Kyphosis, Cryptorchidism, Intestinal malrotation, Abnormal oral frenulum... ORPHA:404440
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Atrioventricular canal defect, Thyroid agenesis, Abnormal antihelix morphology, Neo... ORPHA:3047
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Ma... ORPHA:1908
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Incisor macrodontia, High palate, Abnormal pinna morphology, Tented... ORPHA:438216
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Roberts Syndrome
Mesomelic arm shortening, Abnormal pinna morphology, Severe intrauterine growth retardation, Wris... ORPHA:3103
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Interrupted aortic arch, Microtia, Cryptorchidism, Thrombocytopenia, Posteriorly rotated ... ORPHA:163979
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Osteoporosis, Kyphosis OMIM:618234
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Schilbach-Rott Syndrome
Microtia, Narrow mouth, Micrognathia, Bifid uvula, Posteriorly rotated ears, Submucous cleft hard... OMIM:164220
Thyroid Hemiagenesis
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating free T3, Th... ORPHA:95719
Cat Eye Syndrome
Rectal fistula, Tricuspid atresia, Anal stenosis, Rectal atresia, Meckel diverticulum, Stenosis o... OMIM:115470
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Scoliosis, Osteoporosis, Kyphosis, Finger joint contracture, Abnormal... ORPHA:48431
Pallister-Hall Syndrome
Microtia, Shortening of all distal phalanges of the fingers, Decreased circulating cortisol level... OMIM:146510
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Sensorineural hearing impairment, Everted lower lip vermilion, Long philtrum, Ventricular septal ... OMIM:608670
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Elbow flexion contr... OMIM:608836
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Abnormal pinna morphology, Everted lower lip vermilion, Pu... ORPHA:75389
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... ORPHA:1071
Congenital Rubella Syndrome
Anemia, Sensorineural hearing impairment, Type I diabetes mellitus, Thrombocytopenia, Splenomegal... ORPHA:290
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Cleft soft palate, Short philtrum, Underdeveloped antitragus, Oligohydramnios, Post... ORPHA:293725
2Q37 Microdeletion Syndrome
Thin vermilion border, Abnormal aortic morphology, Short metacarpal, Pyloric stenosis, Conductive... ORPHA:1001
Roifman Syndrome
Biconvex vertebral bodies, Recurrent otitis media, Lymphadenopathy, Noncompaction cardiomyopathy,... OMIM:616651
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Low-set ears, Death in infancy, Micrognathia, Natal tooth, Ventricular septal... OMIM:616901
Prader-Willi Syndrome Due To Translocation
Retrognathia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Abnormal heart morphology, In... ORPHA:177907
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Low-set ears, Posteriorly rotated ears, Cryptorchidism, Overfolded helix OMIM:617330
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Temporomandibular joint ankylosis, Cardiomyopathy, Abnormal mit... ORPHA:217093
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Aortic aneurysm, Scoliosis, Congenital contracture, Joint stiffness, C... ORPHA:115
Otosclerosis 10
Otosclerosis OMIM:615589
Periventricular Nodular Heterotopia 7
Sensorineural hearing impairment, Dental crowding, Ventricular septal defect, Narrow mouth, Micro... OMIM:617201
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Joint stiffness, Hypoplastic vertebral bod... OMIM:230600
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Scoliosis, Pulmonary artery atresia, Low-set ears, Intrauterine gr... OMIM:620568
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa... ORPHA:2521
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Butterfly vertebrae, Genu valgum, Scoliosis, Thoracic kyphoscoliosis, Short ribs,... OMIM:613330
Huntington Disease-Like 1
Jerky head movements, Abnormal head movements, Restlessness ORPHA:157941
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Ctcf-Related Neurodevelopmental Disorder
Thin vermilion border, Fetal distress, Sacral dimple, Low-set, posteriorly rotated ears, Short ph... ORPHA:363611
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Tetralogy of Fallot, Pate... ORPHA:3320
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Gingival overgrowth, Ventricular septal defect, Abnormal... OMIM:169400
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Genu valgum, Cubitus valgus, Intervertebral space narrowing, Delayed eruption of ... ORPHA:263463
Pitt-Hopkins Syndrome
Widely spaced teeth, Sacral dimple, Supernumerary nipple, Short philtrum, Small hand, Scoliosis, ... OMIM:610954
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Kyphosis, Long uvula, Umbilical hernia, Mitral valve prolapse, Dislocated wrist, ... ORPHA:536532
Kagami-Ogata Syndrome
Kyphoscoliosis, Respiratory failure requiring assisted ventilation, Large placenta, Polyhydramnio... ORPHA:254519
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Widely spaced teeth, Polyhydramnios, Scoliosi... ORPHA:496641
Fraser Syndrome 2
Narrow mouth, Low-set ears, Anal atresia, Hypoplasia of the thymus, Atresia of the external audit... OMIM:617666
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Kyphosis, Cryptorchidism, Pulmonic stenosis, Asplenia, Micrognathi... OMIM:619123
3Q29 Microduplication Syndrome
Craniosynostosis, Ectopic anus, High palate, Abnormality of the dentition, Low-set ears, Hearing ... ORPHA:251038
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Coarctation of aorta, Flexion contracture, Patent ductus arteriosus ORPHA:17
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Muscular ventricular septal defect, Hypoplastic aort... OMIM:157800
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Scoliosis, Cryptorchidism, Narrow vertebral interpedicular distance, Precocious... OMIM:620073
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short ribs, Microdontia, Bifid uvula, Wide mouth, Umbilical hernia, Edema, Craniosynostosis, Acce... OMIM:266920
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Ventricular septal defect, Leukemia OMIM:602501
Meckel Syndrome, Type 1
Occipital encephalocele, Breech presentation, Anencephaly, Intestinal malrotation, Wide mouth, Sp... OMIM:249000
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Hearing impairment, Short neck, Vertebral segmentation defect, Low posterior hairline ORPHA:2578
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Retrognathia, Esophageal atresia, Spina bifida occulta, Scoliosis, Micro... OMIM:301030
Meckel Syndrome 14
Retrognathia, Occipital encephalocele, Low-set ears, Increased nuchal translucency, Micrognathia,... OMIM:619879
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Scoliosis, Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary stenosis, L... OMIM:618164
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Protruding ear, Uplifted earlobe, Prominent antihelix, Darwin tubercle of helix OMIM:615722
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Open mouth, Cryptorchidism OMIM:616816
Immunodeficiency 95
Respiratory failure, Lymphopenia OMIM:619773
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Genu valgum, Anal atresia, Tetralogy of Fallot, Cryptorchidism ORPHA:1381
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Reduced bone mineral density, Vertebral compression fracture, Joint hypermobility... OMIM:616507
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Dysplastic pulmonary valve, Mandibular prognathia, Low-set ears, Unila... OMIM:619103
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Dysphagia ORPHA:240103
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Diastrophic Dysplasia
Joint dislocation, Abnormal form of the vertebral bodies, Increased bone mineral density, Scolios... ORPHA:628
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Platyspondyly, Hypodontia, Dental crowding, Short clavicle... OMIM:615777
Codas Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Sensorineural hearing impairmen... ORPHA:1458
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, Narrow mouth, High palate, Camptodactyly, Cleft palate OMIM:246560
Pseudoxanthoma Elasticum, Forme Fruste
Premature occlusive vascular stenosis, Arteriosclerosis, Scoliosis, Kyphosis, Cerebral hemorrhage... OMIM:177850
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Long-Olsen-Distelmaier Syndrome
Death in childhood, Low-set ears, Secundum atrial septal defect, Nonimmune hydrops fetalis, Cardi... OMIM:620609
Tetrasomy 9P
Abnormal number of permanent teeth, Juxtaductal coarctation of the aorta, Abnormal earlobe morpho... ORPHA:3310
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Mucolipidosis Iii Gamma
Genu valgum, Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Kyphosis, Finge... OMIM:252605
Bamforth-Lazarus Syndrome
Thyroid agenesis, Cleft palate, Congenital hypothyroidism OMIM:241850
Fetal Akinesia Deformation Sequence 3
Generalized edema, Short neck, Micrognathia, Fetal akinesia sequence OMIM:618389
Orofacial Cleft 13
Retrognathia, Oligodontia, Micrognathia, Cleft soft palate OMIM:613857
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Ag... OMIM:618430
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Glycine Encephalopathy With Normal Serum Glycine
Retrognathia, Fetal distress, Genu recurvatum, Elbow flexion contracture, Low-set ears, Hip contr... OMIM:617301
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Abnormal T cell morphology, Platy... OMIM:242900
Van Maldergem Syndrome 2
Hip subluxation, Sensorineural hearing impairment, Microtia, Stenosis of the external auditory ca... OMIM:615546
9Q33.3Q34.11 Microdeletion Syndrome
Tented philtrum, Thin vermilion border, Fixed elbow flexion, Patellar hypoplasia, Webbed neck, Ab... ORPHA:495818
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Retrognathia, Hyperlordosis, Microdontia, Eclabion, Wide mouth, Thickened helices, Sacral dimple,... OMIM:619950
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Abnormal pinna morphology, Mitral valve prolapse, Umbilical hernia, Crani... OMIM:182212
Cerebrocostomandibular Syndrome
Webbed neck, Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida, Atresia of the externa... ORPHA:1393
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microtia, Hearing abnormality, Cupped ear, Abnormal cardiac septum morphology ORPHA:1352
Cutis Laxa, Autosomal Recessive, Type Ic
Long philtrum, Rectal prolapse, Vascular dilatation, Accessory spleen, Morgagni diaphragmatic her... OMIM:613177
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Esophageal atresia, Accessory spleen, Interrupted aortic arc... OMIM:164280
Sotos Syndrome
Narrow palate, Advanced eruption of teeth, Muscular ventricular septal defect, Genu valgum, High,... OMIM:117550
Hand-Foot-Genital Syndrome
Microtia, Ventricular septal defect, Miscarriage ORPHA:2438
Fryns Syndrome
Broad neck, Meckel diverticulum, Intestinal malrotation, Wide mouth, Long philtrum, Short distal ... OMIM:229850
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Orofaciodigital Syndrome Type 4
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Abnormality of the ear, Intrauterin... ORPHA:2753
Grubben-De Cock-Borghgraef Syndrome
Short neck, Abnormality of the dentition, Small hand ORPHA:2101
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Macrotia, Motor stereotypy OMIM:618004
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Death in infancy, Wide mouth, Splenomegaly, Umbilical hernia, Low-set, posteriorl... ORPHA:373
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Hip osteoarthritis, Otosclerosis, Abnormal heart valve morph... ORPHA:580
Kabuki Syndrome 2
Atrial septal defect, Protruding ear, Recurrent otitis media, Atrioventricular canal defect, Shor... OMIM:300867
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Kyphosis, Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscl... ORPHA:352447
Keutel Syndrome
Recurrent otitis media, Pulmonary artery stenosis, Hearing impairment, Calcification of cartilage... ORPHA:85202
X Small Rings
Bicuspid aortic valve, Protruding ear, Aortic root aneurysm, Upper limb undergrowth, Low posterio... ORPHA:96201
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Meier-Gorlin Syndrome 7
Dislocated radial head, Sensorineural hearing impairment, Microtia, Craniosynostosis, Scoliosis, ... OMIM:617063
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Retrognathia, Acute leukemia, Hearing abnormality, Anal stenosis, No... ORPHA:647
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Thin vermilion border, Broad neck, Low posterior hairline, Downturned corners of mouth, Wide mout... OMIM:300860
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Arthrogryposis Multiplex Congenita 6
Death in childhood, Nemaline bodies, Death in infancy, Increased variability in muscle fiber diam... OMIM:619334
Alg1-Cdg
Protein-losing enteropathy, Scoliosis, Cardiomyopathy, Kyphosis, Abnormal heart morphology, Respi... ORPHA:79327
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Retrognathia, Broad neck, Abnormal pinna morphology, Low posterior hairline, Kyp... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Retrognathia, Broad neck, Abnormal pinna morphology, Low posterior hairline, Kyp... ORPHA:99228
Monosomy X
Delayed puberty, Retrognathia, Broad neck, Abnormal pinna morphology, Low posterior hairline, Kyp... ORPHA:99226
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Jerky head movements, Punding ORPHA:64280
Turner Syndrome
Delayed puberty, Retrognathia, Broad neck, Abnormal pinna morphology, Low posterior hairline, Kyp... ORPHA:881
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Long philtrum, Craniosynostosis, Rhizomelia, Short palm, Mala... OMIM:166250
46,Xy Sex Reversal 4
Distal symphalangism, Recurrent otitis media, Sensorineural hearing impairment, Microtia, High pa... OMIM:154230
Kbg Syndrome
Protruding ear, Webbed neck, Oligodontia, Thoracic kyphosis, Low posterior hairline, Vertebral ar... OMIM:148050
Pfeiffer Syndrome
Short philtrum, Mandibular prognathia, Hyperlordosis, High palate, Synostosis of carpal bones, Op... ORPHA:710
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s... ORPHA:275864
Agnathia-Otocephaly Complex
Situs inversus totalis, Polyhydramnios, Synotia, Narrow mouth, Low-set ears, Conductive hearing i... OMIM:202650
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Stenosis of the external auditory canal, Microtia, Abnormal a... ORPHA:2878
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Hypertrophic cardiomyopathy, Death in infancy, Hearing impairment, Decreased circulating ... OMIM:618835
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Limited elbow movement, Broad neck, Scoliosis, Dislocation of toes, Kyphosis, Cam... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Cardiomyopathy, Death in infancy, Hearing impairment, Decreased circulating cortisol leve... OMIM:618839
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Osteopenia, Vertebral compression fracture, Vertebral wedging, Scoliosis, Wormian... OMIM:610968
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Microtia, Abnormal venous morphology, Abnormal cerebral vasc... ORPHA:276280
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Hemivertebrae, Adrenal hypoplasia, Low-set ears, Anal atresia, C... OMIM:264480
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Torticollis, Distal joint hypermobility, Scoliosis, Increased laxity of ankles, ... OMIM:254090
Oculocerebrofacial Syndrome, Kaufman Type
Retrognathia, Thin vermilion border, High, narrow palate, Short philtrum, Microdontia, Micrognath... ORPHA:2707
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Vertebral clefting, Decreased calvarial ossification, In... OMIM:241500
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Esophageal varix, Cardiomyopathy, Ascites, Hepatosplenomegaly, D... OMIM:232500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Block vertebrae, Short neck, Supernumerary vertebrae, Vertebral fusion OMIM:271520
Seckel Syndrome 7
Central hypothyroidism, Microtia OMIM:614851
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Low-set ears, Leukopenia, Ventricular... OMIM:612528
Mucopolysaccharidosis, Type Iiid
Thick lower lip vermilion, Recurrent otitis media, Broad alveolar ridges, Elbow flexion contractu... OMIM:252940
Sialidosis Type 1
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Delayed skeletal maturation, Cherry r... ORPHA:812
Intellectual Developmental Disorder, Autosomal Dominant 68
Absent earlobe, Posteriorly rotated ears, Patent ductus arteriosus OMIM:619934
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Spina bifida, Coarctation of aorta, Patent ductus arteriosus, Anom... ORPHA:1120
Sjögren-Larsson Syndrome
Joint stiffness, Scoliosis, Kyphosis ORPHA:816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Polyhydramnios, Abnormal pancreatic duct morpholog... ORPHA:1190
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Stenosis of the external auditory canal, A... OMIM:601427
Stickler Syndrome, Type Iv
Genu valgum, Intervertebral space narrowing, Scoliosis, Platyspondyly, Joint hypermobility OMIM:614134
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, High palate, Hip contracture, Knee contracture, Coronal cleft vertebrae, Tetralogy of ... OMIM:222765
Intellectual Developmental Disorder, Autosomal Recessive 13
Short philtrum, Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Short neck OMIM:613192
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, Dislocated radial head, Microdontia, Low posterior hairline, Wide mou... OMIM:136140
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Atrial septal defect, Hypoparathy... ORPHA:209905
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Death in infancy, Pulmonic stenosis OMIM:619433
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Redundant neck skin, Large placenta, Polyhydramnios, Exaggerated cupid's bow, Wrist... ORPHA:254528
Czeizel-Losonci Syndrome
Hypoplastic helices, Low-set, posteriorly rotated ears, Spina bifida occulta, Dextrocardia, Hypop... ORPHA:2437
Short Stature-Webbed Neck-Heart Disease Syndrome
Short neck, Abnormal heart morphology, Webbed neck ORPHA:2865
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies, Multiple prenatal fractures, Protrusio acetabuli... OMIM:259420
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Ring Chromosome 12 Syndrome
Breast hypoplasia, Microtia, Low-set ears, Hypothyroidism, Secundum atrial septal defect, Cryptor... ORPHA:1439
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Torticollis OMIM:217150
Cantú Syndrome
Low posterior hairline, Osteoporosis, Umbilical hernia, Delayed skeletal maturation, Accelerated ... ORPHA:1517
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Umbilical hernia OMIM:615834
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Short metacarpal, Absent tibia, Aplasia/... OMIM:609945
Cohen Syndrome
Delayed puberty, Aplasia/Hypoplasia of the earlobes, Sensorineural hearing impairment, Ventricula... ORPHA:193
Cardiofaciocutaneous Syndrome 3
Webbed neck, Scoliosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Wide mouth, Short neck, A... OMIM:615279
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Cleft palate, Narrow mouth, Cupped ear ORPHA:93946
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Wormian bones, Osteoporosis, Platyspondyly, Joint hypermobility, Recurrent fractures OMIM:619131
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Wide anterior fontanel, Low-set ... OMIM:619339
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Dental crowding, Ventricular hypertrophy, Underdeveloped tragus, Pulmonic stenosis,... OMIM:620654
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Scoliosis, High palate, Tented upper lip vermilion, Decreased fetal movement, Ede... ORPHA:98905
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, ... ORPHA:175
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Hydranencephaly, Abnormal form of t... ORPHA:2839
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu... ORPHA:766
Crisponi Syndrome
Scoliosis, Limitation of joint mobility, Kyphosis, Camptodactyly of finger, Flexion contracture ORPHA:1545
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Hypoplastic helices, Vascular dilatation, Microtia, Abnormal pinna morphology, Low-set ears, Ante... OMIM:617641
Foxg1 Syndrome
Stereotypical hand wringing, Cognitive impairment, Reduced social reciprocity, Motor stereotypy, ... ORPHA:561854
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Micrognathia, Smooth philtrum, Atrial septal defect OMIM:614526
Syndromic Diarrhea
Villous atrophy, Gastritis, Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of th... ORPHA:84064
Hardikar Syndrome
Vertigo, Bilateral cleft palate, Intestinal malrotation, Unilateral cleft lip, Splenomegaly, Bila... OMIM:301068
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis OMIM:618124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Optic nerve hypoplasia, Microtia, Type II lissencephaly, ... OMIM:236670
Chime Syndrome
Acute leukemia, Supernumerary tooth, Pulmonary valve atresia, Transposition of the great arteries... ORPHA:3474
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ... OMIM:617796
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis, Joint hypermobility, Hip dislocation, Vertebr... ORPHA:96169
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Abnormal pinna morphology, Hyperlordosis, Cardiomyopathy, Abnormal heart ... ORPHA:26791
Kleefstra Syndrome
Chronic otitis media, Advanced eruption of teeth, Delayed eruption of teeth, Scoliosis, Exaggerat... ORPHA:261494
Restrictive Dermopathy
Temporomandibular joint ankylosis, Thoracic kyphoscoliosis, Microcolon, Aplasia/Hypoplastia of th... ORPHA:1662
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Short ribs, Low-set ears, Micromelia, Long philtrum, Respiratory failur... OMIM:617895
Feingold Syndrome Type 1
Interrupted aortic arch, Patent ductus arteriosus ORPHA:391641
9Q31.1Q31.3 Microdeletion Syndrome
Short clavicles, Mandibular prognathia, Type II diabetes mellitus, Bicuspid aortic valve, Short n... ORPHA:401923
Thoracomelic Dysplasia
Genu valgum, Hyperlordosis, Short ribs, Low posterior hairline, Limb undergrowth, Short neck, Elb... ORPHA:1803
Wiskott-Aldrich Syndrome
Acute leukemia, Chronic otitis media, Anemia, Abnormal eosinophil morphology, Vasculitis, Gingiva... ORPHA:906
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ... ORPHA:402075
Craniofacial Dyssynostosis With Short Stature
Abnormal location of ears, Cryptorchidism, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, Abnormally low T cell... OMIM:617237
Skin Creases, Congenital Symmetric Circumferential, 2
Broad neck, Microtia, Narrow mouth, Overfolded helix, Microdontia, Low-set ears, Carious teeth, M... OMIM:616734
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head... OMIM:614856
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear OMIM:618914
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis OMIM:615761
Lymphatic Malformation 13
Single umbilical artery, Unilateral deafness, Patent foramen ovale, Lymphedema, Ascites, Fetal pl... OMIM:620244
Vacterl Association With Hydrocephalus
Stillbirth, Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insuf... OMIM:276950
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Pear-shaped vertebrae, Irregular sclerotic endplates, Delayed skeletal m... OMIM:602111
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Narrow mouth, Abnormal cardiac septum morphology ORPHA:83473
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Decreased testicular size, Abnormality of t... ORPHA:2234
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Pitt-Hopkins Syndrome
Abnormal palate morphology, Aganglionic megacolon, Supernumerary nipple, Short metatarsal, Short ... ORPHA:2896
Immunodeficiency 54
Lymphadenopathy, Adrenocorticotropic hormone excess, Respiratory insufficiency, Caesarian section... OMIM:609981
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Abnor... ORPHA:3027
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Hyperext... OMIM:231070
Congenital Myopathy 10B, Mild Variant
Scoliosis, Hyperlordosis, High palate, Cleft palate, Knee contracture, Respiratory failure OMIM:620249
Snakebite Envenomation
Stroke, Gingival bleeding, Angioedema, Thrombocytopenia, Intracranial hemorrhage, Hypopituitarism... ORPHA:449285
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Anhydramnios OMIM:619887
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphol... ORPHA:292
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal form of the vertebral bodies, Scoliosis, Wormian bones, Kypho... ORPHA:2050
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Pituitar... ORPHA:231720
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Scoliosis, Thoracic kyphoscoliosis, High palate ORPHA:98913
Bloom Syndrome
Cryptorchidism, Malar flattening, Type II diabetes mellitus, Elevated hemoglobin A1c, Protruding ... OMIM:210900
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:94089
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Jansen-De Vries Syndrome
Hyperlordosis, Low-set ears, Posteriorly rotated ears, Wide mouth, Bicuspid aortic valve, Ventric... OMIM:617450
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Young-Onset Parkinson Disease
Agitation, Depression, Short attention span, Impulsivity, Cognitive impairment, Frontal lobe deme... ORPHA:2828
Mehmo Syndrome
Large earlobe, Diabetes mellitus, Cryptorchidism ORPHA:85282
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Flat acetabular roof, Ovoid vertebral bodies, Platyspondyly, Lumbar hype... OMIM:608728
Serkal Syndrome
Orofacial cleft, Pulmonic stenosis, Malrotation of small bowel, Ventricular septal defect, Oligoh... ORPHA:139466
Duane Retraction Syndrome
Hypoplasia of the radius, Webbed neck, Spina bifida occulta, Abnormal form of the vertebral bodie... ORPHA:233
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Aganglionic megacolon, ... ORPHA:210122
Baker-Gordon Syndrome
Self-injurious behavior, EEG abnormality, Motor stereotypy OMIM:618218
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Micrognathia, Decreased fetal movement, Edema, Respiratory failure, Dilated cardi... OMIM:607598
Fraser Syndrome 3
Stillbirth, Sonographic non-visualized fetal bladder, Low-set ears, Ascites, Micrognathia, Nonimm... OMIM:617667
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Microtia OMIM:275630
Meier-Gorlin Syndrome 4
Breast hypoplasia, Thick lower lip vermilion, Genu recurvatum, Microtia, Low-set ears, Narrow mou... OMIM:613804
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:137831
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Vertebral segmentation defect OMIM:608681
3-Methylglutaconic Aciduria, Type Ix
Short neck, High palate OMIM:617698
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Flexion contracture, Kyphosis OMIM:255200
Neurofaciodigitorenal Syndrome
Abnormal tragus morphology, Abnormal pinna morphology, Mandibular prognathia, Low-set ears, Abnor... ORPHA:2673
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J... OMIM:151200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Kyphoscoliosis, Decreased fetal movement, Mixed hearing impairment, Polyhydramnios, Cleft soft pa... OMIM:614557
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Native American Myopathy
Respiratory insufficiency, High palate, Conductive hearing impairment, Downturned corners of mout... ORPHA:168572
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Dental crowding, Long philtrum, Absent antihelix, Scoliosis, Pu... OMIM:300998
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Long philtrum, Solitary median maxillary central incisor, Increased mean co... ORPHA:261250
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Short ribs, Micromelia, Micrognathia, Cleft palate, Malar flattening, Short neck, ... OMIM:224400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Breech presentation, Microtia, Short metacarpal, Death in infancy, Short humerus, Intrauterine gr... OMIM:210710
Feingold Syndrome
Orofacial cleft, Annular pancreas, Esophageal atresia, Abnormal form of the vertebral bodies, Sen... ORPHA:1305
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum OMIM:620393
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Low-set ears, Round ear, Narrow mouth, Hyp... OMIM:614114
Distal Renal Tubular Acidosis
Polydipsia, Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Mixed hearing impairment, Multiple joint dislocation, Microdontia, Dentinogenesis... ORPHA:536467
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Pelizaeus-Merzbacher Disease
Joint stiffness, Scoliosis, Arteriovenous malformation, Kyphosis ORPHA:702
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Narrow palate, Respiratory failure, Scoliosis, Tented upper lip vermilion OMIM:616505
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Pulmonary artery stenosis, Cleft palate, Cleft lip, Ventricular septal defect, Olig... OMIM:611812
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Abn... ORPHA:97289
Robinow Syndrome
Kyphoscoliosis, Mixed hearing impairment, Mesomelic arm shortening, Acromesomelia, Broad alveolar... ORPHA:97360
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent foramen ovale, Microtia, Low-set ears, Patent ductus arteriosus, Large earlobe OMIM:618076
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior OMIM:600795
Neuronal Intranuclear Inclusion Disease
Optic atrophy, Abnormality of the pharynx, Spina bifida occulta ORPHA:2289
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Central hypo... ORPHA:1667
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Everted lower lip vermilion, Splenomegaly, Diabetes insipidus, P... OMIM:619534
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis, Ankle clonus OMIM:617435
Megalencephaly
Short neck, Atrial septal defect, Genu valgum, Macroorchidism ORPHA:2477
Ring Chromosome 7 Syndrome
Situs inversus totalis, Small earlobe, Hydrocele testis, Hypogonadism, Prominent crus of helix ORPHA:1449
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Hypothyroidism, Coarct... ORPHA:1923
Au-Kline Syndrome
Retrognathia, Supernumerary nipple, Aortic root aneurysm, Sensorineural hearing impairment, Micro... OMIM:616580
Alzahrani-Kuwahara Syndrome
Long philtrum, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary sinus enlargement, Low... OMIM:619268
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Elbow flexion contracture, Kyphosis OMIM:618138
Carpenter Syndrome 2
Retrognathia, Broad neck, Sensorineural hearing impairment, Umbilical hernia, Long philtrum, Cran... OMIM:614976
Zimmermann-Laband Syndrome 1
Short distal phalanx of toe, Cardiomyopathy, Wide mouth, Splenomegaly, Umbilical hernia, Long phi... OMIM:135500
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Increased nuchal translucency, Joint stiffness, P... ORPHA:1860
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Aplasia/Hypoplasia of the earlobes, Absent earlobe OMIM:609037
Microphthalmia, Syndromic 1
Kyphoscoliosis, Dental crowding, Abnormal pinna morphology, Bicuspid aortic valve, Agenesis of ma... OMIM:309800
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocytic anemia, Reticuloc... OMIM:615550
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Chromosome 5P13 Duplication Syndrome
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... OMIM:613174
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Hearing impairment, Motor stereotypy, Att... OMIM:619580
Peters Plus Syndrome
Pulmonic stenosis, Wide mouth, Umbilical hernia, Intrauterine growth retardation, Long philtrum, ... ORPHA:709
Mucolipidosis Type Iii Alpha/Beta
Kyphoscoliosis, Recurrent otitis media, Sensorineural hearing impairment, Gingival overgrowth, Co... ORPHA:423461
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Widely-spaced incisors, Increased nuchal translucency, Wide mouth, Ventricular se... OMIM:617635
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Palpebral edema, Polyhyd... ORPHA:50810
Bartsocas-Papas Syndrome 1
Microtia, Short metacarpal, Absent thumb, Decreased fetal movement, Intrauterine growth retardati... OMIM:263650
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Hyperlordosis, Flat acetabular roof, Enlarged interphalange... OMIM:615222
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
C Syndrome
Dislocated radial head, Thick anterior alveolar ridges, Scoliosis, Low-set ears, High palate, Cry... OMIM:211750
Osteogenesis Imperfecta, Type Ii
Respiratory insufficiency, Wormian bones, Premature birth, Nonimmune hydrops fetalis, Limb underg... OMIM:166210
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Transposition of the great arteries, Interrupted aortic arch, Pulmonary artery stenosis, Umbilica... ORPHA:2255
Opitz Gbbb Syndrome
Rectourethral fistula, Posterior pharyngeal cleft, Solitary median maxillary central incisor, Hig... OMIM:300000
Hall-Riggs Syndrome
Delayed eruption of teeth, Scoliosis, Joint stiffness, Delayed skeletal maturation, Platyspondyly ORPHA:2107
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Limited elbow extension, Redundant neck skin, Atresia of the external auditory can... OMIM:123790
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Osteosclerosis of ribs, Lumbar hyperlordosis, Irregular vertebral ... ORPHA:174
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Kyphosis, Umbilical hernia OMIM:618272
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Recurrent o... OMIM:608647
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin vermilion border, Aortic root aneurysm, Dental crowding, Scoliosis, High palate, Kyphosis, C... OMIM:617602
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retrognathia, Abnormality of the endocrine system, Kyphosis, Premature thelarche, Aortic valve st... ORPHA:268261
Hurler Syndrome
Abnormal vertebral morphology, Abnormal heart valve morphology, Scoliosis, Abnormality of the ton... ORPHA:93473
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Motor stereotypy ORPHA:261144
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Thick vermilion border, Macrodontia of permanent maxillary central incisor, O... OMIM:620114
Opitz Gbbb Syndrome
Tracheoesophageal fistula, Abnormal heart morphology, Long philtrum, Craniosynostosis, Patent for... ORPHA:2745
Gorlin Syndrome
Abnormality of the neck, Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebr... ORPHA:377
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hydrops fetalis, Wide anterior fontanel, Anemia of inadequate product... OMIM:613673
ERI1-related disease
Limited elbow extension, Increased vertebral height, Platyspondyly, Dislocated radial head, Scoli... OMIM:608739
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ventricular septal defect, Low-set, posteriorly rotated ears, Hypoplastic left heart ORPHA:2772
Barber-Say Syndrome
Hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal, Delayed er... ORPHA:1231
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Dental crowding, Coronal craniosynostosis, Micrognathia, Natal tooth, Long ... OMIM:145420
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Stomatitis, Glossitis, Stroke, Megaloblastic anemia, Low-set ears, Dehydration, ... ORPHA:79282
Chops Syndrome
Optic atrophy, High, narrow palate, Laryngomalacia, Patent foramen ovale, Anomalous pulmonary ven... OMIM:616368
Idiopathic Neonatal Atrial Flutter
Fetal distress, Hydrops fetalis, Maternal diabetes ORPHA:45452
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Dental crowding, Short metacarpal, Prominent frontal sinuses, Oligodontia,... OMIM:170390
Diamond-Blackfan Anemia 11
Atresia of the external auditory canal, Stenosis of the external auditory canal, Radioulnar synos... OMIM:614900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Disproportionate shortening of the tibia, Short ribs, Ventricular septal defect,... OMIM:263520
C Syndrome
Thin vermilion border, Sacral dimple, Polyhydramnios, Low-set, posteriorly rotated ears, Joint di... ORPHA:1308
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Des... ORPHA:91387
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity OMIM:604801
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Low-set ears, Hearing impairment, Hypoplasia of the maxilla, Cleft palate, ... OMIM:614261
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Scoliosis, Kyphosis, Joint contracture of the 5th finger ORPHA:1883
Microphthalmia/Coloboma 12
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... OMIM:120200
Fraser Syndrome 1
Abnormal middle ear morphology, Dental crowding, Abnormal pinna morphology, Myelomeningocele, Lar... OMIM:219000
Acromelic Frontonasal Dysostosis
Persistent falcine venous sinus, Dilation of Virchow-Robin spaces, Encephalocele, Midline facial ... OMIM:603671
Cardiac-Urogenital Syndrome
Patent urachus, Patent ductus arteriosus, Interrupted aortic arch, Scimitar anomaly, Tetralogy of... OMIM:618280
Kleefstra Syndrome 1
Abnormal pinna morphology, Mandibular prognathia, Everted lower lip vermilion, Persistence of pri... OMIM:610253
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Asplenia, Female hypogonadism, Hypothyroidism, Primary adrena... OMIM:240300
Radio-Tartaglia Syndrome
Long philtrum, High, narrow palate, Retrognathia, Short philtrum, Dental crowding, Scoliosis, Low... OMIM:619312
Trichohepatoenteric Syndrome 1
Thrombocytosis, Microtia, Low-set ears, Pulmonic stenosis, Increased mean platelet volume, Tetral... OMIM:222470
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Dubowitz Syndrome
Aplastic anemia, Sacral dimple, Delayed eruption of teeth, High palate, Low-set ears, Cryptorchid... OMIM:223370
Czech Dysplasia
Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Limitation of joint mobility, Flexi... OMIM:609162
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Retrognathia, Macrodontia of permanent maxillary central incisor, Bilateral crypt... ORPHA:466722
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Hypertrophic cardiomyopathy, Adrenal insufficiency OMIM:619386
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3344
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Hypsarrhythmia, Recurrent hand flapping, Stereotypical hand wringing, Macrotia, St... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis, Ankle clonus OMIM:614409
Proximal 16P11.2 Microduplication Syndrome
Microtia ORPHA:370079
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Stroke-like episode, Abnormal heart morphology, Hypertrophic cardiomyopathy ORPHA:70472
Cono-Spondylar Dysplasia
Polyhydramnios, Scoliosis, Low-set ears, Kyphosis, Short lower limbs, Short humerus, Short neck, ... ORPHA:420794
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Anemia, Hydrops fetalis, Pericarditis, Splenomegaly, Abnormal hemoglobin, Oligohy... ORPHA:163596
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Anemia, Microtia, Hypoplastic nipples, Low-set ears, Thrombocytopenia, At... ORPHA:261323
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Myhre Syndrome
Thin vermilion border, Gingival cleft, Platyspondyly, Craniofacial hyperostosis, Mandibular progn... ORPHA:2588
Craniosynostosis 2
Supernumerary tooth, Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Metopic syno... OMIM:604757
Delpire-Mcneill Syndrome
Ventricular septal defect, Bilateral sensorineural hearing impairment, Tracheoesophageal fistula OMIM:619083
Prune Belly Syndrome
Intestinal atresia, Scoliosis, Vertebral segmentation defect, Anal atresia, Congenital hip disloc... ORPHA:2970
Maxillonasal Dysplasia, Binder Type
Large earlobe OMIM:155050
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Wormian bon... OMIM:617821
Baraitser-Winter Cerebrofrontofacial Syndrome
Osteochondrosis, Retrognathia, Thin vermilion border, Palpebral edema, Webbed neck, Scoliosis, De... ORPHA:2995
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Joint hypermobility, Scoliosis, Hypoplastic aortic arch, Prominent metopic ridge ORPHA:457284
Mucopolysaccharidosis Type 3
Optic atrophy, Chronic otitis media, Mixed hearing impairment, Abnormal aortic valve morphology, ... ORPHA:581
Ritscher-Schinzel Syndrome 2
Short philtrum, Wide anterior fontanel, Scoliosis, High palate, Pulmonary artery hypoplasia, Cryp... OMIM:300963
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Dental crowding, Microtia, Thoracic kyphoscoliosis, Microdontia,... OMIM:618371
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Butterfly vertebrae, Genu valgum, Joint dislocation, Scoliosis, Hyperlor... OMIM:618870
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Hearing impairment, Decreased circulating cortisol level, Premature birth, ... OMIM:618838
Sanjad-Sakati Syndrome
Thin vermilion border, Intestinal obstruction, Hypoparathyroidism, Low-set, posteriorly rotated e... ORPHA:2323
Oculoauricular Syndrome
Stenosis of the external auditory canal, Absent earlobe, Low-set ears, Spina bifida occulta OMIM:612109
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Neonatal death OMIM:187601
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Patent ductus arteriosus OMIM:619909
Aymé-Gripp Syndrome
Breast hypoplasia, Patent ductus arteriosus, Sensorineural hearing impairment, Scoliosis, Delayed... ORPHA:1272
Severe Congenital Nemaline Myopathy
Edema of the dorsum of hands, Breech presentation, Polyhydramnios, Low-set ears, Premature birth,... ORPHA:171430
Bazex-Dupré-Christol Syndrome
Macrotia, Hypoplasia of the ear cartilage ORPHA:113
Menke-Hennekam Syndrome 2
Hearing impairment, Absent earlobe, Recurrent upper respiratory tract infections OMIM:618333
Camptodactyly Syndrome, Guadalajara, Type Iii
Retrognathia, Torticollis, Spina bifida occulta, Webbed neck, Abnormal pinna morphology, Malar fl... OMIM:611929
Zttk Syndrome
Optic atrophy, Atrial septal defect, Thin vermilion border, Intestinal atresia, Short philtrum, H... OMIM:617140
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, Dislocated radial head, Cochlear malformation, Microdontia, Short met... ORPHA:2044
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Bifid uvula, Abnormal heart morphology, Absent thumb, Intrauterine growth retarda... ORPHA:500150
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Retrognathia, Patent foramen ovale, Pulmonary artery atresia, Low-set ears, High palate, Posterio... OMIM:620113
Ruvalcaba Syndrome
Limited elbow extension, Scoliosis, Kyphosis OMIM:180870
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Hearing impairment, Uplifted earlobe, Natal tooth, Abnormal heart morphology,... ORPHA:261652
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level OMIM:203330
Lacrimoauriculodentodigital Syndrome 2
Conical tooth, Microtia, Microdontia, Hearing impairment, Carious teeth, Hypodontia, Cupped ear OMIM:620192
Intellectual Developmental Disorder, Autosomal Dominant 1
Retrognathia, Widely spaced teeth, Microtia, Scoliosis, Hemivertebrae, Low-set ears, Everted lowe... OMIM:156200
Becker Nevus Syndrome
Scoliosis, Kyphosis, Spina bifida occulta ORPHA:64755
Arthrogryposis, Distal, Type 5
Scoliosis, Recurrent patellar dislocation, Congenital finger flexion contractures, Kyphosis, Dist... OMIM:108145
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Mandibular prognathia, Lymphedema, Nonimmune hydrops fetalis, Thick vermilion bo... OMIM:137940
Mosaic Trisomy 1
Orofacial cleft, Thick lower lip vermilion, Abnormal pinna morphology, Elbow flexion contracture,... ORPHA:1692
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Polyhydramnios, Cardiomyopathy, Death in infancy, Hearing impairm... OMIM:614922
Lowry-Wood Syndrome
Dislocated radial head, Joint stiffness, Delayed skeletal maturation, Platyspondyly, Patellar dis... ORPHA:1824
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Scoliosis, Kyphosi... OMIM:619718
Roberts-Sc Phocomelia Syndrome
Abnormal pinna morphology, Severe intrauterine growth retardation, Wrist flexion contracture, Sho... OMIM:268300
Transketolase Deficiency
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:488618
Joubert Syndrome 18
Kyphoscoliosis, Retrognathia, Cleft palate, Lobulated tongue, Trident pelvis, Ventricular septal ... OMIM:614815
Hamamy Syndrome
Sensorineural hearing impairment, Everted lower lip vermilion, Low posterior hairline, Wide mouth... OMIM:611174
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Velopharyngeal insufficiency, Micrognathia, Patent ductus arteriosus, Dental maloc... OMIM:613680
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Neurofibromatosis-Noonan Syndrome
Cubitus valgus, Webbed neck, Scoliosis, Low-set ears, Low posterior hairline, Pulmonic stenosis, ... OMIM:601321
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Pheochromocytoma, High pal... OMIM:162300
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Short philtrum, Scoliosis, Low-set ears, Furrowed tongue, Kyphosis, High palate, Ev... OMIM:616449
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Macrotia, Dysphagia, Repetitive compulsive behavior, Motor stereotypy, Bruxism OMIM:300260
Chromosome 1P36 Deletion Syndrome, Distal
Sensorineural hearing impairment, Microtia, Bifid uvula, Abnormality of the anus, Long philtrum, ... OMIM:607872
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Cryptorchidism ORPHA:90322
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Pathologic fracture, Scoliosis, Elbow flexion contracture, Contracture of the proxima... OMIM:612394
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Progressive Non-Infectious Anterior Vertebral Fusion
Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Bo... ORPHA:2062
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Patent ductus arteriosus, Vertebral fusion OMIM:206900
Dihydropyrimidine Dehydrogenase Deficiency
Respiratory failure requiring assisted ventilation, Retrognathia, Delayed eruption of teeth, High... ORPHA:1675
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Sensorineural he... OMIM:221750
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Wormian bones, Kyphosis, Coronal craniosynostosis, Wide ... OMIM:616294
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Menke-Hennekam Syndrome 1
Absent earlobe, Low-set ears, Umbilical hernia, Short ear, Hearing impairment, Prominent inferior... OMIM:618332
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Limited elbow extension, Genu valgum, Abnormality of the vertebral c... ORPHA:239
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Delayed skeletal maturation, Hyperlordosis, Kyphosis ORPHA:3085
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Hyperlordosis, Hearing impairment, Umbilical hernia, Short... ORPHA:3218
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Chronic otitis media, Motor stereotypy ORPHA:10
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Recurrent otitis media, Coarctation of aorta, Bifid uvula, Cleft palate, Pierre-... OMIM:614921
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Flexion contracture, Kyphosis, Ankle clonus OMIM:609541
Rett Syndrome, Congenital Variant
Tongue thrusting, Motor stereotypy, Protruding ear, EEG abnormality, Bruxism OMIM:613454
Infantile Systemic Hyalinosis
Steatorrhea, Abnormality of the adrenal glands, Gingival overgrowth, Lymphedema, Micromelia, Abno... ORPHA:2176
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Decreased fetal movement, Ankle flexion contracture, Polyhydramnios, Dental crowd... ORPHA:2020
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Gapo Syndrome
Breast hypoplasia, High, narrow palate, Thick lower lip vermilion, Protruding ear, Wide anterior ... OMIM:230740
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Macrotia, Self-mutilation, Motor stereotypy OMIM:300486
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Abnormal cerebral vascular morphology, Long philtrum, ... ORPHA:363705
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... ORPHA:3092
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Sensorineural hearing impairment, Thyroid hypoplasia... ORPHA:226307
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cervical spinal canal stenosis, Torticollis, Short philtrum, Scoliosis, High palate, Micrognathia... OMIM:620224
Pearson Syndrome
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol... ORPHA:699
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Anemia, Low posterior hairline, Hypertrophic cardiomyopathy, Bone marrow hypo... OMIM:617303
Congenital Disorder Of Deglycosylation 2
Genu recurvatum, Microtia, High palate, Hearing impairment, Cleft earlobe, Micrognathia, Hamartom... OMIM:619775
Ohdo Syndrome, X-Linked
Thin vermilion border, Widely spaced teeth, Stenosis of the external auditory canal, Microtia, Sc... OMIM:300895
Beckwith-Wiedemann Syndrome
Abnormal earlobe morphology, Large intestinal polyposis, Premature birth, Wide mouth, Splenomegal... ORPHA:116
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Motor stereotypy, Overfriendliness OMIM:616579
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Abnormality of the lymphat... ORPHA:69735
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Coronal cleft vertebrae, Lumbar hyperlordosis, Enlarged joints, Flex... OMIM:215150
Distal Duplication 5Q
Thin vermilion border, Dextrocardia, Low-set ears, Narrow mouth, Cryptorchidism, Macrotia, Cariou... ORPHA:96097
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Joint dislocation, Glossoptosis, Camptodactyly of fing... ORPHA:3201
Muscular Dystrophy, Congenital, With Or Without Seizures
Fetal distress, Progressive hearing impairment, Decreased fetal movement, Respiratory failure, Ty... OMIM:620166
Intellectual Developmental Disorder, Autosomal Dominant 53
Microtia, Ventricular septal defect, Cryptorchidism OMIM:617798
Cornelia De Lange Syndrome
Delayed puberty, Sensorineural hearing impairment, Low posterior hairline, Intestinal malrotation... ORPHA:199
Fontaine Progeroid Syndrome
Retrognathia, Everted lower lip vermilion, Microdontia, Low posterior hairline, Death in infancy,... OMIM:612289
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Patent ductus arteriosus, Accessory spleen, Patent foramen ovale, Microtia, Low-set ears,... OMIM:620005
Insulin-Like Growth Factor I, Resistance To
Retrognathia, Increased circulating insulin-like growth factor 1 concentration, Patent foramen ov... OMIM:270450
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Vertebral wedging, Scoliosis, Hemivertebrae, Spina bifida, Irregular ossification... OMIM:109400
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Macrotia, Posteriorly rotated ears, Wide mouth, ... OMIM:618106
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Respiratory failure OMIM:312170
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Absent earlobe, Patent foramen ovale, Cryptorchidism, Asplenia... ORPHA:221120
White-Sutton Syndrome
Short philtrum, Sensorineural hearing impairment, High palate, Narrow mouth, Downturned corners o... ORPHA:468678
Gaucher Disease
Delayed puberty, Death in infancy, Leukopenia, Splenomegaly, Hydrops fetalis, Joint dislocation, ... ORPHA:355
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Low-set, posteriorly rotated ears, Short philt... ORPHA:96129
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Scoliosis, Hyperlordosis, Irregular acetabular roof, Po... OMIM:619698
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Wide anterior fontanel, Death in infancy OMIM:618240
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Hydrops fetalis, Cardiomyopathy, Abnormality of the dentition ORPHA:88618
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy OMIM:615084
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Breast hypoplasia, Microtia, Low-set ears, Narrow mouth, Camptodactyly, Hearing impairment, Cleft... OMIM:601353
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Hypoplasia of the gallbladder, Anencephaly, Short... ORPHA:96176
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Hypoplasia of the small intestine, Abnormal pinna morphology, Low-set ears, Asc... OMIM:200995
Clark-Baraitser Syndrome
Large earlobe, Low-set ears OMIM:617752
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Scedosporiosis
Abnormal jejunum morphology, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Sept... ORPHA:449280
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Retrognathia, Subglottic stenosis, Aganglionic megacolon, Polymicrogyria... OMIM:154400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnormal peripheral ... ORPHA:168563
Loeys-Dietz Syndrome 6
Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity, Bifid uvula, Bicuspid aortic val... OMIM:619656
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Lacrimoauriculodentodigital Syndrome 3
Widely spaced teeth, Microtia, Hearing impairment, Carious teeth, Enamel hypoplasia, Xerostomia, ... OMIM:620193
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Respiratory insufficiency, Esophageal varix, Ascites, Hepatosplenomegaly, Nonimmu... ORPHA:367
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Unilateral facial palsy, Atrioventricular canal defect, Torticollis, Exaggerated cupid's bow, Nar... OMIM:619480
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Conical tooth, Selective tooth agenesis, Atresia of the external auditory ca... OMIM:106260
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Short philtrum, Oligodontia, Low-set ears, Everted lower lip vermilion, Hy... OMIM:609460
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Hearing impairment, Absent earlobe, Protruding ear OMIM:619557
Meier-Gorlin Syndrome 1
Microtia, Microdontia, Death in infancy, Genu varum, Breast hypoplasia, Hemivertebrae, Hearing im... OMIM:224690
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Recon Progeroid Syndrome
Thin vermilion border, Anemia, Attached earlobe, Microtia, Dental crowding, Thrombocytopenia, Ske... OMIM:620370
Omodysplasia 1
Limited knee extension, Short humerus, Umbilical hernia, Long philtrum, Axillary pterygium, Fibul... OMIM:258315
Niemann-Pick Disease, Type C2
Death in childhood, Sea-blue histiocytosis, Foam cells, Polyhydramnios, Respiratory insufficiency... OMIM:607625
Donnai-Barrow Syndrome
Wide anterior fontanel, Sensorineural hearing impairment, Intestinal malrotation, Posteriorly rot... ORPHA:2143
Hepatic Veno-Occlusive Disease
Respiratory failure, Ascites ORPHA:890
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Reduced social reciprocity, Dysphagia, Aggressive behavior OMIM:619738
Noonan Syndrome 3
Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Patent foramen ovale, Low-set ears, H... OMIM:609942
Trichodermodysplasia-Dental Alterations Syndrome
Supernumerary tooth, Adenoma sebaceum, Delayed eruption of teeth, Scoliosis, Hyperlordosis, Tooth... ORPHA:3353
Apert Syndrome
Chronic otitis media, Limited elbow movement, Bifid uvula, Craniosynostosis, Narrow palate, Heari... OMIM:101200
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Hearing impairment, Patent ductus arteriosus, Intrauterine growth retardati... OMIM:620327
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Thoracolumbar kyphoscol... OMIM:618853
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Intestinal atresia, Rectal abscess, Ventricular septal defect, Hypop... ORPHA:436252
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy OMIM:618917
Woods Syndrome
Thin vermilion border, Ventricular septal defect, Supernumerary nipple OMIM:615236
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Recurrent otitis media, Hearing abnormalit... ORPHA:3455
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Abnormal tricuspid valve morphology, Low-s... ORPHA:485405
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Sensorineural hearing impairment, EEG abnormality, Motor stereotypy ORPHA:2479
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Glossoptosis, Myelomeningocele, Hypoplastic frontal sinuses, Anodontia... ORPHA:90652
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Rauch-Steindl Syndrome
Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy, Protruding ear, Aggre... OMIM:619695
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Protruding ear, Micrognathia, Ventricular septal defect, Cryptorchidism ORPHA:2256
Pentalogy Of Cantrell
Orofacial cleft, Non-midline cleft of the upper lip, Scoliosis, Abnormal pericardium morphology, ... ORPHA:1335
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Scoliosis, Delayed ossification of carpal bones,... ORPHA:168549
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Abnormal testis morphology, Everted lower lip vermilion, Cryptorchidism, Aortic val... ORPHA:96147
Mend Syndrome
Sacral dimple, Wide anterior fontanel, High palate, Abnormal auditory evoked potentials, Low-set ... ORPHA:401973
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Conical tooth, Midgut malrotation, Low-set ears... OMIM:263750
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent otitis media, Torticollis, Downturned corners of mouth, Posteriorly rotated ears, Submu... OMIM:619680
Galloway-Mowat Syndrome 7
High palate, Cleft palate, Smooth philtrum, Edema, Cleft lip, Ventricular septal defect, Dilated ... OMIM:618348
3Mc Syndrome 1
Lambdoidal craniosynostosis, Patent ductus arteriosus, Spina bifida occulta, Wide anterior fontan... OMIM:257920
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Scoliosis, Hyperlordosis, Kyphosis, Multiple joint contractures OMIM:128100
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate OMIM:619239
Marden-Walker Syndrome
Retrognathia, Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Abno... ORPHA:2461
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Microtia, Low-set ears, Hydrocele testis OMIM:613603
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis, Hip dislocation ORPHA:464282
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Sensorineural hearing impairment, Patent foramen ovale, Cryptorchidism, Rectoperineal fistula, Co... OMIM:618748
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hip subluxation, Anemia, Hypochromic microcytic anemia, Pancytopenia, Gingival overgr... OMIM:259720
Cerebrofacioarticular Syndrome
Microtia, Pulmonic stenosis, Absence of pubertal development, Conductive hearing impairment, Abno... ORPHA:314679
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Sensorineural hearing impairment, Scoliosis, Intercostal muscle weakness OMIM:606071
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Bohring-Opitz Syndrome
Narrow palate, Retrognathia, Hyperechogenic pancreas, Joint dislocation, Dislocated radial head, ... OMIM:605039
Timothy Syndrome
Patent foramen ovale, Microdontia, Hypothyroidism, Tetralogy of Fallot, Patent ductus arteriosus,... OMIM:601005
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Abnormal vena cava morphology, Low-set ears, Cryptorchidism,... ORPHA:166035
Maternal Uniparental Disomy Of Chromosome 1
Hearing impairment, Type I diabetes mellitus, Uplifted earlobe, Pancytopenia ORPHA:251009
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Vertebral compression fracture, Wormian bones, Decreased calvarial ossification, Plat... OMIM:616229
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe OMIM:616108
Jacobsen Syndrome
Annular pancreas, Low-set ears, Missing ribs, Cryptorchidism, Pyloric stenosis, Micrognathia, Thr... OMIM:147791
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Exaggerated cupid's bow, Low-set ears, Cryptorchidism, Atresia ... ORPHA:261236
Ritscher-Schinzel Syndrome 4
Impulsivity, Macrotia, Dysphagia, Motor stereotypy, Aggressive behavior OMIM:619435
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Moyamoya phenomenon, Microtia, Precocious puberty, Type II diabetes mellitus, Dilatation of the c... OMIM:210720
Melnick-Needles Syndrome
Kyphoscoliosis, Short humerus, Mitral valve prolapse, Short distal phalanx of finger, Hip disloca... OMIM:309350
Double Outlet Left Ventricle
Pulmonary valve atresia, Orofacial cleft, Double outlet left ventricle, Tricuspid atresia, Bicusp... ORPHA:3427
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Carpal bone hypoplasia, Multicentric ossification of proximal humera... OMIM:223800
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Decreased number of sweat glands, Yellow-brown discoloration of the teeth, P... ORPHA:69087
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Tongue atrophy OMIM:613435
15q26 overgrowth syndrome
Craniosynostosis, Sensorineural hearing impairment, Mandibular prognathia, Abnormal pinna morphol... DECIPHER:81
Mowat-Wilson Syndrome
Aganglionic megacolon, Widely spaced teeth, Recurrent otitis media, Delayed eruption of teeth, To... OMIM:235730
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Recurrent otitis media, Anemia, Scoliosis, Low-set ears, Ankyloglossia, Bile... OMIM:619525
Paternal Uniparental Disomy Of Chromosome 6
Abnormal earlobe morphology, Ventricular septal defect, Precocious puberty, Umbilical hernia, Pat... ORPHA:96191
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98863
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Respiratory insufficiency, Scoliosis, Hyperlordosis, ... ORPHA:258
Scheie Syndrome
Genu valgum, Spondylolisthesis, Mandibular prognathia, Aortic valve stenosis, Mitral stenosis, Sh... OMIM:607016
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Microtia, Mandibular prognathia, High palate, Everted lower lip vermilion, Finger... OMIM:620494
Bloom Syndrome
Esophageal neoplasm, Retrognathia, Cheilitis, Acute myeloid leukemia, Recurrent tonsillitis, Stom... ORPHA:125
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, 11 pairs of ribs, Webbed neck, Aortic root aneurysm, Aortopulmonary window, Low-s... OMIM:620025
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteomyelitis OMIM:612852
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate, Agenesis of pineal gland OMIM:614402
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Hip subluxation, Hyperlordosis, Osteoporosis, Irregular tars... OMIM:226980
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hydrops fetalis, Anemia, Cardiomegaly, Congenital hydrocele, Oral ulcer,... OMIM:620376
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Reduced social reciprocity, Motor stereotypy, ... OMIM:610042
Warburg-Cinotti Syndrome
Ankle flexion contracture, Elbow flexion contracture, Low-set ears, Wrist flexion contracture, At... OMIM:618175
Fibrochondrogenesis 2
Platyspondyly OMIM:614524
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Left superior vena cava draining to coronary sinus, High, narrow palate, Cholelithi... ORPHA:464738
Galloway-Mowat Syndrome 5
Hearing impairment, Large earlobe OMIM:617731
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Seckel Syndrome
Absent earlobe, Abnormal earlobe morphology ORPHA:808
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy OMIM:617393
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Renpenning Syndrome 1
Short philtrum, Scoliosis, Hearing impairment, Cleft palate, Protruding ear, Thin upper lip vermi... OMIM:309500
Pallister-Killian Syndrome
Kyphoscoliosis, Everted lower lip vermilion, Intestinal malrotation, Aortic valve stenosis, Bifid... OMIM:601803
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Meckel Syndrome
Optic atrophy, Microphthalmia, Accessory spleen, Anophthalmia, Asplenia, Cryptorchidism, Congenit... ORPHA:564
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Breech presentation, Polyhydramnios, Sensorineural hearing impairment, Respir... OMIM:619847
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Death in infancy, Micrognathia, Patent ductus a... ORPHA:452
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ventricular septal defect, Neonatal death, Cryptorchidism OMIM:613730
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Respiratory insufficiency, Short ribs, Glossoptosis, Ab... ORPHA:2108
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Cholelithiasis, Normochromic anemia, Respiratory ins... OMIM:615512
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Webbed neck, Macrotia, Cleft palate, Aplasia/Hypoplasia of the... ORPHA:2167
Glycogen Storage Disease Due To Acid Maltase Deficiency
Dilatation of the cerebral artery, Respiratory insufficiency, Vasculitis, Scoliosis, Hyperlordosi... ORPHA:365
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Atrioventricular canal defect, Abnormal vertebral morphology... OMIM:314390
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin vermilion border, Spina bifida occulta, Short philtrum, Scoliosis, Short lingual frenulum, L... OMIM:617360
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Death in childhood, Cubitus valgus, Wide anterior fontanel, Sensorineural he... OMIM:214100
Nephrotic Syndrome, Type 11
High palate, Cleft palate, Smooth philtrum, Cleft lip, Ventricular septal defect, Dilated cardiom... OMIM:616730
Listeriosis
Myocarditis, Stiff neck, Arteritis, Stroke, Miscarriage, Splenic abscess, Hearing impairment, Bac... ORPHA:533
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Posteriorly rotated ears, Motor stereotypy, Overfriendliness, Attention deficit hyp... OMIM:619293
Xanthoma Disseminatum
Abnormality of the pharynx, Abnormality of the larynx, Diabetes insipidus ORPHA:158003
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Cubitus valgus, Webbed neck, Low-set ears, High palate, Hypertrophic cardiomyopat... OMIM:607721
Leigh Syndrome
Respiratory failure, Sensorineural hearing impairment, Respiratory insufficiency OMIM:256000
Kaufman Oculocerebrofacial Syndrome
Abnormal pinna morphology, Low-set ears, High palate, Narrow mouth, Congenital hip dislocation, I... OMIM:244450
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Anterior creases of earlobe, Low-set ears ORPHA:3038
Fountain Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Spina bifida ORPHA:3219
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Vertebral segmentation defect, Synostosis of carpal bones, Kyphosis, Joint stiffness, ... ORPHA:1005
Smith-Magenis Syndrome
Chronic otitis media, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperact... ORPHA:819
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Polyhydramnios, Patent foramen ovale, Notched primary central incisor, Right atrial enlargement, ... OMIM:620519
Alagille Syndrome
Delayed puberty, Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral b... ORPHA:52
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Axonal degeneration, Abnormal peripheral nerve morphology by anatomical site, Abnormal sensory ne... ORPHA:88628
Ayme-Gripp Syndrome
Long philtrum, Sensorineural hearing impairment, Delayed cranial suture closure, Microtia, Low-se... OMIM:601088
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Recurrent otitis media OMIM:616037
Ohdo Syndrome, Sbbys Variant
Low-set ears, Microdontia, Hypothyroidism, Hearing impairment, Cleft palate, Posteriorly rotated ... OMIM:603736
Achondroplasia
Limited elbow extension, Cervical spinal canal stenosis, Hip joint hypermobility, Flat acetabular... ORPHA:15
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Delayed puberty, Dental crowding, Kyphosis, Wide mouth, Cardiomegaly, Short philt... OMIM:300967
Infantile Liver Failure Syndrome 3
Beaking of vertebral bodies, Abnormal acetabulum morphology, Hypoplastic vertebral bodies, Platys... OMIM:618641
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Mixed hearing impairment, Widely spaced teeth, Abnormality of the sphenoid sinus,... ORPHA:309282
Camptodactyly Syndrome, Guadalajara Type 3
Retrognathia, Distal shortening of limbs, Spina bifida occulta, Webbed neck, Abnormal pinna morph... ORPHA:488434
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Hypodontia, Narrow mouth, Cleft palate, Smooth philtrum, Protruding ear... ORPHA:1973
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Phace Association
Vascular dilatation, Aortic aneurysm, Congenital hypothyroidism, Coarctation of aorta, Arterial s... OMIM:606519
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypsarrhythmia, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Motor stereo... ORPHA:457351
Hemochromatosis, Neonatal
Intrauterine growth retardation, Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Myopathy With Extrapyramidal Signs
Leukocytosis, Splenomegaly, Tented upper lip vermilion, Short neck, Ventricular septal defect OMIM:615673
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Supernumerary tooth, Thin vermilion border, Abnormal aortic valve morphology, Hearing impairment,... ORPHA:86818
Beck-Fahrner Syndrome
Long philtrum, Protruding ear, High palate, Open mouth, Cardiomegaly, Ventricular septal defect OMIM:618798
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Conductive hearing im... ORPHA:261197
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Narrow mouth, Low-set ears, Pyloric stenosis, Cleft palate ORPHA:83617
20Q11.2 Microduplication Syndrome
Limited elbow extension, Tented philtrum, Retrognathia, Low-set, posteriorly rotated ears, Microt... ORPHA:363659
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Abnormality of the dentition, Short 5th metacarpal ORPHA:1264
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Atrial septal defect, Microtia, Left ventricular hypertrophy OMIM:620510
Schneckenbecken Dysplasia
Fibular hypoplasia, Polyhydramnios, Abnormal form of the vertebral bodies, Lymphedema, Short ribs... ORPHA:3144
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Synostosis of carpal bones, Kyphosis, Abnorma... ORPHA:3121
Histiocytosis-Lymphadenopathy Plus Syndrome
Retrognathia, Joint contracture of the 5th finger, Sensorineural hearing impairment, Pulmonic ste... OMIM:602782
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Absent earlobe, Descending aortic dissection, Ascending aortic dissection, Mitral valve p... OMIM:130050
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Congenital hypothyroidism, Patent ductus arterios... ORPHA:2519
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Tricuspid valve prolapse, Sacral dimple, Abnormal earlobe morphology, Abnormal dent... ORPHA:2556
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Torticollis, Kyphosis OMIM:181405
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Abnormal amplitude of f... ORPHA:168491
Rothmund-Thomson Syndrome
Aplastic anemia, Supernumerary tooth, Hypoplasia of the ulna, Anemia, Delayed eruption of teeth, ... ORPHA:2909
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements ORPHA:247815
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Microphthalmia, Anophthalmia OMIM:615877
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Broad neck, Carpal bone aplasia, Aplasia/Hypoplasia of the phala... OMIM:276820
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Abnormal dental enamel morphology, Mandibular prognathia, Scoliosis, Delayed... ORPHA:2658
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98855
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Dislocated radial head, Short metacarpal, Bicuspid aortic valve, Long philtrum, H... OMIM:271640
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Diabetes insipidus, Sensorineural hearing impairment, Microtia, Low-set ears, Pancreatic aplasia,... OMIM:618500
Osteogenesis Imperfecta, Type Viii
Osteopenia, Vertebral compression fracture, Scoliosis, Wormian bones, Decreased skull ossificatio... OMIM:610915
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
17P11.2 Microduplication Syndrome
Abnormality of the pharynx, Low-set, posteriorly rotated ears, Open bite, Abnormal dental morphol... ORPHA:1713
Familial Isolated Hypoparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Dela... ORPHA:2238
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Anemia, Sensorineural hearing impairment, High palate, Hypertrophic cardiomyo... OMIM:220110
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hip subluxation, Patent foramen o... OMIM:613457
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Decreased skull ossification OMIM:300863
Galactosialidosis
Hearing impairment, Nonimmune hydrops fetalis, Hepatosplenomegaly, Cherry red spot of the macula OMIM:256540
Mosaic Trisomy 16
Atrial septal defect, Maternal diabetes, Meckel diverticulum, Abnormal ear morphology, Hearing im... ORPHA:1708
Hennekam-Beemer Syndrome
Thick lower lip vermilion, Delayed cranial suture closure, Scoliosis, Microtia, High palate, Mast... ORPHA:2135
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Motor stereotypy, Attention deficit hyperact... OMIM:300352
Sillence Syndrome
Abnormal vertebral morphology, Intervertebral disk degeneration, Scoliosis, Flat acetabular roof,... ORPHA:3168
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Compulsive behaviors, Cognitive impairment, Reduced social reciprocity, Dysphagia, Ag... OMIM:615157
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Zellweger Syndrome
Wide anterior fontanel, Sensorineural hearing impairment, Abnormal pinna morphology, High palate,... ORPHA:912
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Stenosis of the external a... OMIM:209885
Xq12-Q13.3 Duplication Syndrome
Cleft earlobe, Decreased serum insulin-like growth factor 1, Anterior creases of earlobe, Cryptor... ORPHA:314389
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Abnormal palate morphology, Hypodontia, Scoliosis, Mandibular prognathia, Camptoda... ORPHA:1236
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short philtrum, Scoliosis, Patent foramen ovale, Low-set ears, Cryptorchidism, Hearing impairment... OMIM:618454
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Respiratory failure, Spinal rigidity, Hypertrophic cardiomyopathy OMIM:620326
Mitochondrial Trifunctional Protein Deficiency 1
Hydrops fetalis, Respiratory insufficiency, Abnormality of the amniotic fluid, Respiratory failur... OMIM:609015
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Osteopenia, Limited elbow extension, Genu valgum, Delayed ossification of carpal ... OMIM:271510
Craniofrontonasal Syndrome
Breast hypoplasia, Axillary pterygium, Webbed neck, Scoliosis, Unilateral breast hypoplasia, Abno... OMIM:304110
Phosphoribosylpyrophosphate Synthetase Superactivity
Sensorineural hearing impairment, Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level OMIM:603233
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Boutonneuse Fever
Lymphadenopathy, Vasculitis, Thrombocytopenia, Leukopenia, Respiratory failure, Cervical lymphade... ORPHA:83313
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Abnormality of thyroid physiology, Anemia, Abnormal atriove... ORPHA:563
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Tetralogy of Fallot, Vertebral fusion ORPHA:959
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormal eating behavior, Reduced social reciprocity, Recurrent hand ... ORPHA:544254
Developmental And Epileptic Encephalopathy 6B
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Motor stereotypy OMIM:619317
Coffin-Siris Syndrome 4
Everted upper lip vermilion, Thick lower lip vermilion, Short philtrum, Scoliosis, Pulmonary arte... OMIM:614609
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Non-midline cleft of the upper lip, Low-set ears, Downturned cor... ORPHA:2075
Proximal Spinal Muscular Atrophy
Decreased fetal movement, Atrial septal defect, Scoliosis, Thoracic kyphosis, Elbow flexion contr... ORPHA:70
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Delayed eruption of teeth, Increased interv... OMIM:224300
Severe X-Linked Intellectual Disability, Gustavson Type
Abnormal pinna morphology, Congenital hip dislocation, Macrotia, Micrognathia, Profound hearing i... ORPHA:3078
Roifman-Chitayat Syndrome
Short metatarsal, Thin lower lip vermilion, Arthritis, Short metacarpal, Umbilical hernia, Short ... OMIM:613328
14Q22Q23 Microdeletion Syndrome
Hearing impairment, Atresia of the external auditory canal, Micrognathia, Optic nerve aplasia, Po... ORPHA:264200
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Spondylolisthesis, Descending thoracic aorta aneu... OMIM:610168
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Genu valgum, Platyspondyly, Joint dislocation, Hyperlordosis, Kyphosis, ... OMIM:618019
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Camptodactyly of finger, Premature birth, Decreased... OMIM:604320
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopa... OMIM:600268
Schaaf-Yang Syndrome
Scoliosis, Camptodactyly, Kyphosis, Flexion contracture, Arthrogryposis multiplex congenita OMIM:615547
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Compulsive behaviors, Motor stereotypy OMIM:615656
Mccune-Albright Syndrome
Intestinal polyposis, Precocious puberty, Hearing impairment, Pituitary adenoma, Hyperthyroidism,... OMIM:174800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Glos... ORPHA:444077
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Delayed puberty, Cheilitis, Abnormal circulating calcium-phosphate regulati... ORPHA:534
Holt-Oram Syndrome
Abnormal coronary artery origin, Pulmonic stenosis, Mitral valve prolapse, Long philtrum, Hypopla... OMIM:142900
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c... OMIM:618052
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Webbed neck, Hypoplastic acetabulae, Thickened nuchal skin fold,... OMIM:620076
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Interictal EEG abnormality, EEG with frontal epileptiform discharg... ORPHA:363558
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Kawasaki Disease
Myocarditis, Cheilitis, Glossitis, Arthritis, Ascending tubular aorta aneurysm, Vasculitis, Abnor... ORPHA:2331
Atypical Rett Syndrome
Agitation, Restrictive behavior, Tongue thrusting, Stereotypical hand wringing, Inappropriate lau... ORPHA:3095
6Q Terminal Deletion Syndrome
High, narrow palate, Low-set, posteriorly rotated ears, Scoliosis, Prominent metopic ridge, Micro... ORPHA:75857
Duane-Radial Ray Syndrome
Vascular dilatation, Fused cervical vertebrae, Spina bifida occulta, Shoulder dislocation, Scoliosis OMIM:607323
Garg-Mishra Progeroid Syndrome
Platyspondyly, Persistent open anterior fontanelle, Ovoid vertebral bodies OMIM:620601
Pontocerebellar Hypoplasia, Type 8
Talipes valgus, Scoliosis, Patent foramen ovale, Low-set ears, Posteriorly rotated ears, Tented u... OMIM:614961
Saul-Wilson Syndrome
Madelung deformity, Hypoplasia of the odontoid process, Irregular vertebral endplates, Platyspond... OMIM:618150
Wolf-Hirschhorn Syndrome
Chronic otitis media, Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Short phi... ORPHA:280
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal form of the vertebral bodies, Dislocated radial head, Decr... ORPHA:666
Meier-Gorlin Syndrome 2
Breast hypoplasia, Abnormal pinna morphology, Microtia, Narrow mouth, Camptodactyly, Smooth philtrum OMIM:613800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short ribs, Short metacarpal, Long philtrum, Short finger, Scoliosis, Elbow flexion contracture, ... OMIM:271665
1P36 Deletion Syndrome
Annular pancreas, Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Microtia, S... ORPHA:1606
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Death in childhood, Torticollis, Cerebral edema, Respiratory failure, Myelop... OMIM:617186
Hurler-Scheie Syndrome
Scoliosis, Kyphosis, Hand pain, Joint stiffness, Umbilical hernia, Camptodactyly of finger, Contr... OMIM:607015
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Meier-Gorlin Syndrome 6
Delayed puberty, Decreased response to growth hormone stimulation test, Stenosis of the external ... OMIM:616835
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:301029
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Hypsarrhythmia, Low-set ears, Dysphagia, Motor stereotypy, Protrudin... ORPHA:447997
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Bicoronal synostosis, Scoliosis, Kyphosis, Camptodactyly of fin... OMIM:619951
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Abnormal earlobe morphology, Duod... ORPHA:141127
Galloway-Mowat Syndrome
Abnormality of the dentition, Camptodactyly of finger, Macrotia, Micrognathia, Hypoplasia of the ... ORPHA:2065
Marinesco-Sjogren Syndrome
Scoliosis, Cubitus valgus, Flexion contracture, Kyphosis OMIM:248800
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Kyphoscoliosis, Sensorineural hearing impairment, Microtia, Hypoplastic philtrum, Wide mouth, Hyp... OMIM:309580
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, ... ORPHA:2363
Tolchin-Le Caignec Syndrome
Cardiac rhabdomyoma, Sensorineural hearing impairment, Abnormal vestibular function, Narrow mouth... OMIM:618971
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Pancytopenia, Esophageal varix, Death in infancy, Inflammation of the large intesti... OMIM:614576
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:79443
Tularemia
Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Pha... ORPHA:3392
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Platyspondyly, Dislocated radial head, Cervical instability, Delayed ossification... OMIM:617425
Tetraamelia-Multiple Malformations Syndrome
Orofacial cleft, Microtia, Narrow mouth, Abnormally ossified vertebrae, Anal atresia, Micrognathi... ORPHA:3301
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Hyposegmentation of neutrophil nuclei, Micromelia, Long philtrum, Short ne... OMIM:614800
Coffin-Siris Syndrome 12
Sensorineural hearing impairment, Ridged cranial sutures, Scoliosis, Patent foramen ovale, Poster... OMIM:619325
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te... OMIM:619575
Schinzel-Giedion Midface Retraction Syndrome
Short 1st metacarpal, Hypoplastic nipples, Low-set ears, Hypoplasia of first ribs, Splenopancreat... OMIM:269150
Kabuki Syndrome 1
Premature thelarche, Intestinal malrotation, Joint dislocation, Scoliosis, Abnormality of the den... OMIM:147920
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Aggressive behavior, Abnormal audi... ORPHA:909
Frontometaphyseal Dysplasia
Limited elbow movement, Fused cervical vertebrae, Limitation of knee mobility, Spina bifida occul... ORPHA:1826
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Protruding ear, Large earlobe, Overfolded helix, Prominent antitragus OMIM:620191
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98853
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Iris coloboma ORPHA:2250
Congenital Myopathy 22A, Classic
Spinal rigidity, Scoliosis, Kyphosis, Congenital finger flexion contractures, Osteoporosis, Hip c... OMIM:620351
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Macroorchidism OMIM:300143
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Low-set ears, Nephrogenic diabetes insipidus, Hearing impairment, Death in ... OMIM:208085
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Mixed hearing impairment, Vertebral hypoplasia, Punctate vertebral calcifica... ORPHA:79345
Pseudohypoparathyroidism Type 2
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level ORPHA:94090
Spondyloenchondrodysplasia
Delayed eruption of teeth, Vasculitis, Arthritis, Kyphosis, Lower limb pain, Platyspondyly, Juven... ORPHA:1855
Riddle Syndrome
Intraventricular hemorrhage, Arthritis, Neonatal asphyxia, Recurrent sinusitis, Otitis media, Res... ORPHA:420741
Monosomy 13Q14
Webbed neck, Aplasia/Hypoplasia of the thumb, Low-set ears, Micrognathia, Protruding ear, Short n... ORPHA:1587
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Increased skull ossifica... OMIM:618476
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Depression, E... ORPHA:309271
Muscular Dystrophy, Duchenne Type
Scoliosis, Hyperlordosis, Cardiomyopathy, Respiratory insufficiency due to muscle weakness, Knee ... OMIM:310200
Seckel Syndrome 9
Pulmonary artery hypoplasia, Micrognathia, Protruding ear, Atrial septal defect, Ventricular sept... OMIM:616777
Familial Visceral Myopathy
Aganglionic megacolon, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the abdominal wal... ORPHA:2604
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:79444
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thin vermilion border, Dilation of Virchow-Robin spaces, Conical incisor, Hyperlordosis, Maxillar... ORPHA:73223
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy, Respiratory failure, Di... OMIM:614299
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Carpal bone hypoplasia, Genu valgum, Platyspondyly, Lumbar hyperlordosis OMIM:184253
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Hartsfield Syndrome
Microphthalmia, Encephalocele ORPHA:2117
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Vascular dilatation, Aortic aneurysm, Aplasia/Hypoplasia of the earlob... ORPHA:286
Marshall-Smith Syndrome
Kyphoscoliosis, Short mandibular rami, Retrognathia, Glossoptosis, Kyphosis, Microdontia, Eclabio... OMIM:602535
Intellectual Developmental Disorder, Autosomal Dominant 56
Short attention span, Impulsivity, Reduced social reciprocity, Attention deficit hyperactivity di... OMIM:617854
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Osteopenia, Pathologic fracture, Vertebral compression fracture, Scoliosis, Kypho... OMIM:259770
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Widely spaced teeth, High palate, Short neck, Cryptorchidism, Thin upper lip verm... OMIM:615803
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Bile duct proliferation, Atrial septal defect, Ventricul... OMIM:611134
Phelan-Mcdermid Syndrome
Tongue thrusting, Hearing impairment, Macrotia, Motor stereotypy, Protruding ear, Bruxism, Aggres... OMIM:606232
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Generalized osteoporosis, Joint hype... ORPHA:536471
Codas Syndrome
Genu valgum, Atrioventricular canal defect, Rectovaginal fistula, Delayed eruption of teeth, Sens... OMIM:600373
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Limited knee extension, Kyphosis, Osteoporosis, Persistent ... OMIM:304150
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis OMIM:617143
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Vertebral wedging, Cystic hygroma, Platyspondyly, Decreased calvarial ossification OMIM:617866
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Joint contracture, Osteoporosis, Kyphosis OMIM:615381
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis ORPHA:324737
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Retrognathia, Thin vermilion border, Redundant neck skin, Rectal prolapse, Sacral dimple, Cubitus... OMIM:617157
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Webbed neck, Dislocated radial head, Scoliosis, Camptodactyly, Congenit... OMIM:617137
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis ORPHA:79107
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Bilateral vestibular schwannoma, Palmar neurofibroma OMIM:162260
Zollinger-Ellison Syndrome
Duodenal ulcer, Intestinal obstruction, Pituitary growth hormone cell adenoma, Pituitary corticot... ORPHA:913
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Death in infancy, Nephrogenic diabetes insipidus, Right ventricular hypertrophy, Ve... OMIM:613404
Mckusick-Kaufman Syndrome
Tarsal synostosis, Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Cryptorchidism... ORPHA:2473
Acrofacial Dysostosis, Rodríguez Type
Microtia ORPHA:1788
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Absent or minimally ossified vertebral bodies, Hydrops fetalis, Esophageal atresia... ORPHA:93271
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Acute lymphobl... OMIM:208900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microtia, Death in childhood, Low-set ears, Death in infancy OMIM:614643
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Abnormality of canine, Iron deficiency anemia, Mandibular prognathia, Narrow mouth, High palate, ... ORPHA:261584
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Microtia, High palate, Camptodactyly, Hearing impairment, Posteriorly rotated ears... OMIM:227330
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Predominantly lower limb lymphedema, Abnormal sweat gland morphology, Abnormalit... OMIM:607823
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Ankle clonus OMIM:613954
Acromesomelic Dysplasia 4
Beaking of vertebral bodies, Genu valgum, Genu varum, Umbilical hernia, Accelerated skeletal matu... OMIM:619636
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Reduc... OMIM:612469
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Abnormal circulating renin, Adrenal hyperplasia, Tinnitus, Hyperaldoster... ORPHA:369929
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Delirium, Restlessness ORPHA:100924
Townes-Brocks Syndrome 2
Microtia, Overfolded helix, Cupped ear OMIM:617466
Esophageal Atresia
Subglottic stenosis, Abnormal vertebral morphology, Maternal diabetes, Scoliosis, Barrett esophag... ORPHA:1199
Weill-Marchesani Syndrome 2
Narrow palate, Tooth malposition, Scoliosis, Elbow flexion contracture, High palate, Pulmonic ste... OMIM:608328
Aneurysm-Osteoarthritis Syndrome
Retrognathia, Spondylolisthesis, Arterial tortuosity, Arterial dissection, Pulmonic stenosis, Bif... ORPHA:284984
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Chand Syndrome
Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morphology, Commiss... ORPHA:1401
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Hyperactivity, Abnormal emotion, Reduced social recipro... ORPHA:1942
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Abnormal heart morphology, Ventricular septal defect, Umbilical hernia ORPHA:254534
Niemann-Pick Disease Type C
Hydrops fetalis, Foam cells, Respiratory insufficiency, Bone-marrow foam cells, Ascites, Fetal as... ORPHA:646
Bosma Arhinia Microphthalmia Syndrome
Abnormal pinna morphology, Absent tragus, Atresia of the external auditory canal, Conductive hear... OMIM:603457
Microsporidiosis
Myocarditis, Adrenocortical abnormality, Myositis, Thyroiditis, Glossitis, Lymphadenitis, Decreas... ORPHA:2552
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Atrial septal defect, Ventricular septal defect OMIM:263630
Leukodystrophy, Hypomyelinating, 22
Short neck OMIM:619328
Trichohepatoneurodevelopmental Syndrome
Steatorrhea, Recurrent otitis media, Widely spaced teeth, Cholelithiasis, Dental crowding, Scolio... OMIM:618268
Den Hoed-De Boer-Voisin Syndrome
Multifocal epileptiform discharges, Agitation, Hypsarrhythmia, Stereotypical hand wringing, Poste... OMIM:619229
Pfeiffer Syndrome Type 2
Atresia of the external auditory canal, Low-set ears ORPHA:93259
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive psychomotor deterioration, Short attention span, Abnormal social ... ORPHA:309263
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Scoliosis, Cryptorchidism, Hearing impairment, Micrognathia, A... ORPHA:494344
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Abnormal helix morphology, Ve... ORPHA:1519
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure, Megaloblastic anemia, Neutropenia OMIM:250940
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Hypoplasia of the radius, Mixed hearing impairment, Absence of Stensen du... OMIM:149730
Limb-Mammary Syndrome
Protruding ear, Cleft hard palate, Breast aplasia, Hypoplastic nipples, Absent nipple, Bilateral ... ORPHA:69085
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Aganglionic megacolon, Abnormal tongue morphology... ORPHA:653
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar kyphosis, Anemia, Patent foramen ovale, Thoracic kyphosis, Hypertrophic cardiomyopathy, Bo... ORPHA:505248
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Low-set, posteriorly rotated ears, Hypoplasia of the frontal bone, Hypoplasia of t... ORPHA:306542
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Optic nerve hypoplasia, Bilateral sensorineural hearing impairm... ORPHA:300570
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Microtia, Low-set ears, Posteriorly rotated ears, Diabetes mellitus OMIM:614813
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint hypermobility, Kyphosis OMIM:300354
Meier-Gorlin Syndrome 3
Breast hypoplasia, Patellar hypoplasia, Aplasia/Hypoplasia of the patella, Microtia, Low-set ears... OMIM:613803
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity, Aggressive behavior OMIM:616083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Rabson-Mendenhall Syndrome
Dental crowding, Cardiomyopathy, Increased pineal volume, Increased circulating androgen concentr... ORPHA:769
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Retrognathia, Thin vermilion border, Acute myelomonocytic leukemia, Platyspondyly, Subarterial ve... ORPHA:99646
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anasarca, Anemia, Pancytopenia, Respiratory insufficiency, Scoliosis, Esophageal varix, High pala... OMIM:613658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Townes-Brocks Syndrome 1
Sensorineural hearing impairment, Microtia, Cryptorchidism, Hypothyroidism, Satyr ear, Stahl ear,... OMIM:107480
15Q24 Microdeletion Syndrome
Joint hypermobility, Scoliosis, Myelomeningocele, Kyphosis ORPHA:94065
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, Aniridia, Anophthalmia ORPHA:1101
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cubitus valgus, Wide anterior fontanel, Sensorineural hearing impairment, Hypoplastic nipples, Lo... OMIM:614866
Pallister-Hall Syndrome
Microtia, Thyroid hypoplasia, Bifid uvula, Central adrenal insufficiency, Accessory oral frenulum... ORPHA:672
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Cryptorchidism, Hearing impairment, Neonatal death, Patent ductus arteri... OMIM:620024
19Q13.11 Microdeletion Syndrome
Thin vermilion border, Retrognathia, Solitary median maxillary central incisor, Ventricular septa... ORPHA:217346
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Anophthalmia, Splenomegaly, Dysphagia OMIM:615636
Tatton-Brown-Rahman Syndrome
Talipes valgus, Thin vermilion border, Everted upper lip vermilion, Patellar subluxation, Scolios... OMIM:615879
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Dysphagia, Motor stereotypy, Interictal EEG abnormality ORPHA:79264
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood, Anemia OMIM:615838
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Joint dislocation, Aortic root aneurysm, Ascending tubular aorta aneur... OMIM:300989
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy OMIM:620502
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy ORPHA:280763
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Ablepharon Macrostomia Syndrome
Microtia, Hearing impairment, Atresia of the external auditory canal, Hypoplasia of the maxilla, ... ORPHA:920
Basilar Impression, Primary
Craniofacial asymmetry, Short neck, Kyphoscoliosis, Abnormal cervical myelogram OMIM:109500
Geleophysic Dysplasia 3
Limited elbow movement, Subglottic stenosis, Polyhydramnios, Premature birth, Limb undergrowth, T... OMIM:617809
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Temtamy Syndrome
Microphthalmia ORPHA:1777
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Remnants of the hyaloid vascular system, Tractional retinal detachment, Hyaloid v... ORPHA:91495
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Vertebral compression fracture, Scoliosis, Decreased calvarial ossificat... OMIM:613848
Poland Syndrome
Short ribs, Low posterior hairline, Kyphosis, Aplasia/Hypoplasia of the sternum, Finger symphalan... ORPHA:2911
Bardet-Biedl Syndrome
Retrognathia, Abnormality of the endocrine system, Hypoplasia of the ovary, Dental crowding, Card... ORPHA:110
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Ivic Syndrome
Limited elbow movement, Carpal bone hypoplasia, Patent ductus arteriosus, Rectovaginal fistula, S... OMIM:147750
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Hypertrophic cardi... ORPHA:308552
Mowat-Wilson Syndrome
Dental crowding, Sensorineural hearing impairment, Everted lower lip vermilion, Pulmonic stenosis... ORPHA:2152
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Microtia ORPHA:319675
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Thick lower lip vermilion, Flat acetabular roof, Low posterior hairline, ... OMIM:610442
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Conductive hearing impairment, Limb undergrowth ORPHA:1861
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Abno... ORPHA:261552
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly ORPHA:163966
Norrie Disease
Optic atrophy, Protruding ear, Sensorineural hearing impairment, Abnormal helix morphology, Abnor... ORPHA:649
Familial Adenomatous Polyposis
Eruption failure, Odontoma, Pituitary adenoma, Duodenal adenocarcinoma, Multiple gastric polyps, ... ORPHA:733
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Absent earlobe, Low-set ears OMIM:130070
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Respiratory failure, Pulmonary edema, Vasculitis ORPHA:70578
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Bifi... ORPHA:261537
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, EEG with occipital epileptiform discharges, EEG with parietal epileptiform discha... OMIM:619428
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Large earlobe OMIM:618346
Oculodentodigital Dysplasia
Madelung deformity, Abnormal form of the vertebral bodies, Broad alveolar ridges, Abnormal pinna ... ORPHA:2710
Staphylococcal Necrotizing Pneumonia
Pleural empyema, Pleural effusion, Leukocytosis, Increased circulating procalcitonin concentratio... ORPHA:36238
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Motor stereotypy ORPHA:228384
Birk-Barel Syndrome
Sacral dimple, Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented uppe... OMIM:612292
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Sensorineural hearing impairment, Scoliosis, Patent foramen ovale, Abnormal pin... OMIM:616975
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Vertebral clefting OMIM:615709
Spondyloenchondrodysplasia With Immune Dysregulation
Kyphoscoliosis, Increased intervertebral space, Scoliosis, Rheumatoid arthritis, Joint swelling, ... OMIM:607944
Faundes-Banka Syndrome
Delayed puberty, Long ear, Flexion contracture of toe, Microtia, Low-set ears, Premature thelarch... OMIM:619376
Asbestos Intoxication
Mediastinal lymphadenopathy, Myocardial fibrosis, Edema, Respiratory failure, Cor pulmonale ORPHA:2302
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Death in childhood, Neutropenia, Refractory sideroblastic anemia, Anemia, Pancytopen... OMIM:557000
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Long philtrum, Sensorineural hearing impairment, Scoliosis, Mandibular prognathi... ORPHA:459070
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification OMIM:167800
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells... OMIM:224120
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary... ORPHA:652
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Esophageal varix, Low-set ears, Pancreatic cysts, Ascites, Biliary hy... ORPHA:731
Joubert Syndrome 22
Microphthalmia OMIM:615665
Leigh Syndrome
Anemia, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Macrotia, Intrauterine gro... ORPHA:506
Alexander Disease
Respiratory insufficiency, Scoliosis, Hyperlordosis, High palate, Kyphosis, Hypothyroidism, Preco... ORPHA:58
Keutel Syndrome
Recurrent otitis media, Miscarriage, Calcification of the auricular cartilage, Pulmonary artery h... OMIM:245150
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Severe intrauterine growth... OMIM:218600
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Cyclic Neutropenia
Perianal abscess, Periodontitis, Atrophy of alveolar ridges, Oral ulcer, Gingivitis, Tooth absces... ORPHA:2686
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Cholelithiasis, Reticulocytosis... OMIM:266200
Gardner Syndrome
Supernumerary tooth, Neoplasm of the pancreas, Adrenocortical adenoma, Odontoma, Abnormality of t... ORPHA:79665
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Large earlobe OMIM:615716
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy, Pleural effusion, Pericardial effusion, Peripheral edema, Re... ORPHA:79126
Marfan Syndrome
Osteopenia, Limited elbow movement, Reduced bone mineral density, Spondylolisthesis, Dilatation o... ORPHA:558
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Craniosynostosis, Hyperextensibility of the finger joints, Kyphosis OMIM:616914
Malignant Atrophic Papulosis
Ischemic stroke, Arteritis, Vertigo, Intestinal perforation, Pleural effusion, Abnormal pericardi... ORPHA:679
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Limitation of joint mobility, Kyphosis, Irr... OMIM:252600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Respiratory insufficiency, Premature birth, Leukopenia, Thrombocytopenia, R... OMIM:613845
Loeys-Dietz Syndrome
Vascular dilatation, Arterial tortuosity, Joint dislocation, Aortic aneurysm, Scoliosis, Arterial... ORPHA:60030
Cutis Laxa, Autosomal Recessive, Type Ib
Retrognathia, Pulmonary artery aneurysm, Death in childhood, Arterial tortuosity, Aortic root ane... OMIM:614437
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contracture, Thymus hyp... OMIM:619036
Williams Syndrome
Chronic otitis media, Abnormal carotid artery morphology, Abnormal form of the vertebral bodies, ... ORPHA:904
Harrod Syndrome
Joint hypermobility, Scoliosis, Kyphosis ORPHA:2115
Achondroplasia
Limited elbow extension, Genu varum, Narrow vertebral interpedicular distance, Lumbar kyphosis in... OMIM:100800
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Mitral stenosis, Abnormal heart morphology, Tetralog... ORPHA:2847
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cleft upper lip, Cleft palate, Hypogonadism, H... OMIM:615849
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Posteriorly rotated ears, Abnormal earlobe morphology ORPHA:96168
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Low-set ears, Anteverted ears, High palate, Cryptorchidism, Hearing impairm... OMIM:613884
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hereditary Cryohydrocytosis With Reduced Stomatin
Broad neck, Spontaneous hemolytic crises, Macrotia, Hepatosplenomegaly, Short neck, Stomatocytosis ORPHA:168577
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Exaggerated cupid's bow, Low-set ears, Smooth philtrum, Simple ear, Long philtr... OMIM:619306
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy OMIM:605711
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Cleft upper lip, Cleft palate, ... OMIM:313850
Schwannomatosis, Vestibular
Peripheral schwannoma, Unilateral vestibular schwannoma, Vertigo, Hearing impairment, Tinnitus, N... OMIM:101000
Loeys-Dietz Syndrome 3
Retrognathia, Spondylolisthesis, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral ... OMIM:613795
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Tented philtrum, Low-set ears, Micrognathia, Long philtrum, Short neck, Cryptorchidism, Anteriorl... ORPHA:495875
Townes-Brocks Syndrome
Delayed puberty, Abnormal tragus morphology, Abnormal pinna morphology, Microtia, Hypothyroidism,... ORPHA:857
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Familial Osteodysplasia, Anderson Type
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Failure of eruption of permanent teet... ORPHA:2769
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Talipes valgus, Delayed puberty, Aortic root aneurysm, Submucous cleft hard palate, Type II diabe... OMIM:618891
Full Nf2-Related Schwannomatosis
Peripheral schwannoma, Sensorineural hearing impairment, Cranial nerve paralysis, Facial palsy, B... ORPHA:637
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressiv... OMIM:618825
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Thrombocytopenia-Absent Radius Syndrome
Carpal bone hypoplasia, Fused cervical vertebrae, Spina bifida, Coarctation of aorta, Tetralogy o... OMIM:274000
Developmental And Epileptic Encephalopathy 80
Abnormal pinna morphology, Low-set ears, Hearing impairment, Uplifted earlobe, Posteriorly rotate... OMIM:618580
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Enthesitis, Oligoarthritis OMIM:106300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Vertebral segmentation defect, Hearing impairment, Atresia of the external auditory canal, Abnorm... ORPHA:3186
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spina bifida, Block vertebrae OMIM:304050
Parathyroid Carcinoma
Parathyroid carcinoma, Hyperparathyroidism OMIM:608266
Combined Oxidative Phosphorylation Deficiency 3
Decreased fetal movement, Death in childhood, Concentric hypertrophic cardiomyopathy, Respiratory... OMIM:610505
Familial Adenomatous Polyposis 1
Supernumerary tooth, Duodenal polyposis, Adrenocortical adenoma, Eruption failure, Odontoma, Papi... OMIM:175100
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis ORPHA:349
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Delayed cranial suture closure, Microtia, Low-set ear... OMIM:101400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Scoliosis, Large knee, Platyspondyly, Delayed eruption of permanent teeth OMIM:619269
Borjeson-Forssman-Lehmann Syndrome
Decreased testicular size, Hearing impairment, Hypogonadism, Large earlobe, Cryptorchidism ORPHA:127
Loeys-Dietz Syndrome 1
Retrognathia, Pulmonary artery aneurysm, Spondylolisthesis, Descending thoracic aorta aneurysm, A... OMIM:609192
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Fraser Syndrome
Subglottic stenosis, Low-set, posteriorly rotated ears, Encephalocele, Abnormal pinna morphology,... ORPHA:2052
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Macrotia, Micrognathia, Thick vermilion border, Craniosynostosis, Ventricular septa... OMIM:250410
Donnai-Barrow Syndrome
Wide anterior fontanel, Sensorineural hearing impairment, Low-set ears, Hearing impairment, Intes... OMIM:222448
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Vasculitis in the skin, Respiratory failure, Anemia, Splenomegaly OMIM:620296
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Orofacial cleft, Ventricular septal defect, Splenomegaly OMIM:615630
Periventricular Nodular Heterotopia 9
Everted upper lip vermilion, Microtia, Gingival overgrowth, High palate, Prominent metopic ridge,... OMIM:618918
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Sensorineural hearing impairment, Hypertrophic cardiomyopathy, Bile du... OMIM:618329
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Aceruloplasminemia
Abnormal pancreas morphology, Macular degeneration, Elevated hepatic iron concentration, Abnormal... ORPHA:48818
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Vertebral compression fracture, Osteoporosis, Kyphosis OMIM:219090
Weill-Marchesani Syndrome 1
Narrow palate, Tooth malposition, Scoliosis, Pulmonic stenosis, Aortic valve stenosis, Abnormal d... OMIM:277600
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behavior... OMIM:619512
Odontoonychodermal Dysplasia
Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... OMIM:257980
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Abnormality o... ORPHA:2526
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia, Iris coloboma OMIM:605627
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Avian Influenza
Miscarriage, Pleural effusion, Thrombocytopenia, Leukopenia, Lymphopenia, Respiratory failure ORPHA:454836
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid valve prolapse, Cardiomegaly, Abnor... ORPHA:555874
Oculopharyngeal Muscular Dystrophy
Abnormality of the pharynx ORPHA:270
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Cardiomyopathy, Hypothyroidism, Bone marrow hypocellularity, Re... ORPHA:445038
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Macrotia, Retrognathia, Ventricular septal defect OMIM:234050
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Pericardial effusion, Thrombocy... OMIM:618775
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Low-set ears OMIM:618325
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Proteus Syndrome
Arteriovenous malformation, Abnormal form of the vertebral bodies, Kyphosis, Tooth agenesis, Lymp... ORPHA:744
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Widely spaced teeth, Solitary median maxillary central incisor, Short philtrum, Den... OMIM:301044
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Cleft soft palate, Hydrocephalus, Optic nerve hypoplasia, Intestinal malrotation, ... OMIM:619321
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Genu valgum, Arteriovenous malformation, Scoliosis, Kyphosis, Osteoporosis, Joint stiffness, Intr... ORPHA:394
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Aspartylglucosaminuria
Beaking of vertebral bodies, Chronic otitis media, Abnormal vertebral morphology, Anterior beakin... ORPHA:93
Microphthalmia, Lenz Type
Webbed neck, Delayed eruption of teeth, Scoliosis, Hyperlordosis, Kyphosis, Camptodactyly of finger ORPHA:568
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Increased nuchal translucency, Coarctation o... OMIM:620066
Focal Dermal Hypoplasia
Duodenal atresia, Abnormal dental enamel morphology, Scoliosis, Open bite, Abnormality of the mid... ORPHA:2092
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Interictal epileptiform activity, EEG with focal spikes, Increased theta frequency activity in EE... ORPHA:98784
Weaver Syndrome
Limited elbow extension, Patent ductus arteriosus, Scoliosis, Limited knee extension, Kyphosis, C... OMIM:277590
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Short Stature-Micrognathia Syndrome
Retrognathia, High palate, Cryptorchidism, Micrognathia, Cleft palate, Ventricular septal defect OMIM:617164
Neurocardiofaciodigital Syndrome
Thin vermilion border, Retrognathia, Double inlet left ventricle, High palate, Hearing impairment... OMIM:619869
Poliomyelitis
Respiratory failure requiring assisted ventilation, Stiff neck, Paralytic ileus, Respiratory fail... ORPHA:2912
Coffin-Siris Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, Scoliosis, Papillary thyroid carcinoma, Cry... ORPHA:1465
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Anal atresia, Hearing impairment, Cleft palate, Colonic atresia, Ove... OMIM:309801
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Chylothorax, Arteriovenous fistula, Abnormality of the lymphatic syst... ORPHA:137667
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Oligohydramnios, Situs inversus totalis OMIM:602088
Jaberi-Elahi Syndrome
Joint stiffness, Joint hypermobility, Scoliosis, Kyphosis OMIM:617988
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Respiratory failure, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Webbed neck, Abnormal form of the vertebral bodies,... OMIM:194190
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Genu valgum, Scoliosis, Elbow flexion contracture, Kyphosis, Hip contracture, Finger joint hyperm... OMIM:618493
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon, Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcito... OMIM:171400
Sponastrime Dysplasia
Kyphoscoliosis, Generalized joint hypermobility, Limited elbow extension, Genu valgum, Hip sublux... ORPHA:93357
Diets-Jongmans Syndrome
Long ear, Duodenal atresia, Ventricular septal defect, Hearing impairment, Wide mouth, Cryptorchi... OMIM:618846
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis, Kyphosis OMIM:219080
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands, Lymphedema OMIM:300291
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Protruding ear, Mandibular prognathia, High palate, Bifid uvula, Posteriorly rotated ears, Malar ... OMIM:620330
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis, Broad neck, Polyhydramnios, Anencephaly, Accessory spleen, ... OMIM:236680
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele OMIM:603194
Gaucher Disease Type 3
Delayed puberty, Hydrops fetalis, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral v... ORPHA:77261
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... ORPHA:64744
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Genu valgum, Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis OMIM:618443
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Hyposegmentation of neutrophil nuclei, Cleft palate, Thick vermil... ORPHA:250999
Occipital Horn Syndrome
Rickets, Osteopenia, Abnormality of the wrist, Vascular dilatation, Genu valgum, Venous insuffici... ORPHA:198
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Osteoporosis, Kyphosis OMIM:610475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Webbed neck, Congenital muscular torticollis, Scoliosis, Kyphosis, Pr... ORPHA:2215
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Respiratory insufficiency, Cardiomyopathy, Left ventricular hypertrophy, Resp... ORPHA:746
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Kyphosis, Ankle clonus ORPHA:88644
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Coffin-Lowry Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Sco... ORPHA:192
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Respiratory insuff... ORPHA:723
Hereditary Elliptocytosis
Hydrops fetalis, Cholelithiasis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, S... ORPHA:288
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Block vertebrae ORPHA:50
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Neuroocular Syndrome
Retrognathia, Widely spaced teeth, Sacral dimple, Short uvula, Increased overbite, Genu recurvatu... OMIM:619539
Proboscis Lateralis
Cyclopia, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic dis... ORPHA:141099
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Cor pulmonale OMIM:263000
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Cervical spinal canal stenosis, Limited elbow movement, Sacral dimple, Acetabular dysplasia, Cerv... ORPHA:508533
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal earlobe morphology, Abnormal circulating p... ORPHA:95699
Chromosome Xq26.3 Duplication Syndrome
Accelerated skeletal maturation, Kyphosis OMIM:300942
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Short finger, Rhizomelia, 11 pairs of ribs, Short ribs, Flat acetabular roof, Short ... OMIM:250220
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect, Cryptorchidism OMIM:619908
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, EEG with parietal focal spikes, EEG with central focal spikes, EEG with o... OMIM:301066
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicular neopl... ORPHA:99880
Rett Syndrome
Scoliosis, Kyphosis OMIM:312750
Thauvin-Robinet-Faivre Syndrome
Sensorineural hearing impairment, Macrotia, Transient neutropenia, Thick vermilion border, Mitral... OMIM:617107
Bainbridge-Ropers Syndrome
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Motor stereotypy, Self-injurious... OMIM:615485
Trisomy 18
Narrow palate, Low-set, posteriorly rotated ears, Esophageal atresia, Non-midline cleft of the up... ORPHA:3380
Bone Marrow Failure Syndrome 3
Hyperechogenic pancreas, Retinal dysplasia, Hyperactivity, Exocrine pancreatic insufficiency, Cry... OMIM:617052
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Sensorineural hearing impairme... OMIM:252010
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Respiratory insufficiency due to muscle weakness, Mild fetal ventr... ORPHA:273
Palmoplantar Carcinoma, Multiple Self-Healing
Long philtrum, Short neck OMIM:615225
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Fibular Hemimelia
Anophthalmia ORPHA:93323
Amyotrophic Lateral Sclerosis
Respiratory failure, Xerostomia, Tongue atrophy ORPHA:803
Filippi Syndrome
Thin vermilion border, Short philtrum, Cryptorchidism, Ventricular septal defect, Supernumerary n... ORPHA:3255
Parathyroid Carcinoma
Peptic ulcer, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone ... ORPHA:143
Adnp Syndrome
Protruding ear, Microtia, Cryptorchidism, Low-set ears ORPHA:404448
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Rett Syndrome
Agitation, Abnormal autonomic nervous system physiology, Stereotypical hand wringing, Motor stere... ORPHA:778
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Absence of Ste... OMIM:129900
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity ... OMIM:300986
Whim Syndrome
Severe periodontitis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fall... ORPHA:51636
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Retinal nonattachment, Remnants of the hyaloid vascular system, Buphthalmos, Iris... OMIM:221900
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect, Vascular dilatation OMIM:219730
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Death in infancy, Respiratory arrest, Neonatal death, Patent du... OMIM:617248
Okamoto Syndrome
Anal stenosis, Abnormal left ventricle morphology, Scoliosis, Primum atrial septal defect, Abnorm... ORPHA:2729
Infant Acute Respiratory Distress Syndrome
Respiratory failure, Premature birth, Pulmonary edema ORPHA:70587
Degcags Syndrome
Retrognathia, Sensorineural hearing impairment, Abnormal spleen morphology, Pulmonic stenosis, Le... OMIM:619488
Adult-Onset Still Disease
Myocarditis, Anemia, Lymphadenopathy, Leukocytosis, Pharyngitis, Bone marrow hypocellularity, Per... ORPHA:829
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Joint stiffness, Ovoid vertebral bodies, Severe platyspondyly, Platyspondyly OMIM:608940
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Dehydration, Esophageal stricture, Enamel hypoplasia, Abnormal oral mucosa morphology, La... ORPHA:79404
Isolated Arrhinia
Tessier cleft, Microtia, Absent nasal septal cartilage, Hypoplasia of the nasal bone ORPHA:1134
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Absence of Ste... OMIM:604292
Fanconi Anemia, Complementation Group N
Aplastic anemia, Hypoplasia of the radius, Acute myeloid leukemia, Anal atresia, Absent thumb, Sh... OMIM:610832
Hypophosphatemic Rickets And Hyperparathyroidism
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hyperparathyroidism OMIM:612089
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Wiedemann-Steiner Syndrome
Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Aggressive behavior ORPHA:319182
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Osteoporosis, Kyphosis, Ankylosis, Recurrent fractures OMIM:239000
Acute Lung Injury
Edema, Respiratory failure ORPHA:178320
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Dysphagia, Motor stereotypy ORPHA:572013
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular... ORPHA:444013
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Posterior scalloping of vertebral bod... ORPHA:3042
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites, Death in infancy OMIM:617049
Spondyloocular Syndrome
Osteopenia, Femur fracture, Webbed neck, Vertebral compression fracture, Low posterior hairline, ... OMIM:605822
Lead Poisoning
Anorexia, Memory impairment, Depression, Cognitive impairment, Reduced social reciprocity, Attent... ORPHA:330015
Seckel Syndrome 2
Microphthalmia OMIM:606744
Coffin-Siris Syndrome 1
Duodenal ulcer, Retrognathia, Dislocated radial head, Abnormal pinna morphology, Kyphosis, Microd... OMIM:135900
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta, Abnormal right ventricle morphology, Sensorineural hearing impairment, Chro... ORPHA:500095
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal death, Respiratory failure, Neonatal respiratory distress, Misalignmen... OMIM:265120
Smith-Lemli-Opitz Syndrome
Broad alveolar ridges, Dental crowding, Death in infancy, Intestinal malrotation, Bifid uvula, Sp... OMIM:270400
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Kyphosis, Ankle clonus OMIM:211530
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Hearing impairment, Microtia, Secundum atrial septal defect, Patent ductus arteriosus OMIM:620455
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hydrops fetalis, Polyhydramnios, Sensorineural hearing impairment, Fetal polyuria, Premature birt... OMIM:602522
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Bilateral sensorineural hearing impair... ORPHA:468631
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Simpson-Golabi-Behmel Syndrome, Type 1
Meckel diverticulum, Cardiomyopathy, Pulmonic stenosis, Intestinal malrotation, Wide mouth, Splen... OMIM:312870
Abetalipoproteinemia
Kyphoscoliosis, Steatorrhea, Anemia, Reticulocytosis, Hypothyroidism, Cardiomegaly, Respiratory f... ORPHA:14
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Achilles tendon calcific... OMIM:617994
Hepatoerythropoietic Porphyria
Erythrodontia, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Splenomegaly, Edema,... ORPHA:95159
Congenital Erythropoietic Porphyria
Erythrodontia, Reticulocytosis, Poikilocytosis, Abnormality of the amniotic fluid, Anisocytosis, ... ORPHA:79277
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant... OMIM:609049
Encephalitis Lethargica
Pharyngitis, Stiff neck, Limitation of neck motion ORPHA:83600
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Chronic Beryllium Disease
Pharyngitis, Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy ORPHA:133
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia, Occipital encephalocele ORPHA:370959
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Attention deficit hyperactivity disorder, Facial diplegia, Motor stereotypy, Aggressive behavior OMIM:619121
Koolen-De Vries Syndrome Due To A Point Mutation
Hyperlordosis, Cardiomyopathy, Everted lower lip vermilion, Kyphosis, Pulmonic stenosis, Abnormal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hyperlordosis, Cardiomyopathy, Everted lower lip vermilion, Kyphosis, Pulmonic stenosis, Abnormal... ORPHA:363958
Micro Syndrome
Joint stiffness, Scoliosis, Kyphosis ORPHA:2510
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Abnormal aortic morphology, Abnormal testis m... ORPHA:991
Atelis Syndrome 2
Sacral dimple, Kyphosis, Patent ductus arteriosus OMIM:620185
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Cdags Syndrome
Lambdoidal craniosynostosis, Delayed cranial suture closure, Kyphosis, Coronal craniosynostosis, ... OMIM:603116
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Trichothiodystrophy
Retrognathia, High, narrow palate, Anemia, Joint dislocation, Increased mean corpuscular hemoglob... ORPHA:33364
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Palpebral edema, Thick lower lip vermilion, Mesiodens, Narrow mouth, Short ear, Long philtrum ORPHA:314647
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Reduced social reciprocity, Impulsivity ORPHA:8
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, EEG with spike-wave complexes, Low-set ears, Hearing impairment, EEG with g... ORPHA:369837
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema, Unilateral deafness OMIM:612097
Alagille Syndrome 1
Butterfly vertebral arch, Stroke, Hemivertebrae, Renal artery stenosis, Papillary thyroid carcino... OMIM:118450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Osteoporosis, Kyphosis OMIM:610489
Legius Syndrome
Hearing impairment, Scoliosis, Vestibular schwannoma ORPHA:137605
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormal heart morphology, Parathyroid hypoplasia, Cleft palate, Diabetes mel... ORPHA:2237
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Joubert Syndrome 37
Microphthalmia OMIM:619185
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Holoprosencephaly 2
Solitary median maxillary central incisor, Anterior pituitary agenesis, Diabetes insipidus, Bilat... OMIM:157170
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Pharyngitis, Acute lymphoblastic leukemia, Lymphopenia, ... ORPHA:486
Apc-Related Attenuated Familial Adenomatous Polyposis
Supernumerary tooth, Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical adenoma, Odonto... ORPHA:247806
Severe Oculo-Renal-Cerebellar Syndrome
Large earlobe, Macrotia ORPHA:2715
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype... OMIM:615474
Developmental And Epileptic Encephalopathy 84
Large earlobe OMIM:618792
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Rodrigues Blindness
Microphthalmia OMIM:268320
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Vascular calcification, Enamel hypoplasia, Pulp calcification, Hyperparathyroidism, T... OMIM:211900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Encephalocele ORPHA:228390
Focal Dermal Hypoplasia
Optic atrophy, Microphthalmia, Aniridia, Anophthalmia, Hypoplastic nipples, Chorioretinal colobom... OMIM:305600
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:620242
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Adams-Oliver Syndrome 1
Pulmonic stenosis, Pulmonary artery stenosis, Aortic valve stenosis, Cleft palate, Tetralogy of F... OMIM:100300
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Cowden Syndrome 5
Scoliosis, Kyphosis OMIM:615108
Hec Syndrome
Abnormality of the pharynx, Endocardial fibroelastosis, Cardiomyopathy, Vaginal hydrocele ORPHA:2119
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Motor stereotypy ORPHA:927
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Hamartomatous polyposis, Aortic diss... OMIM:175050
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
Temtamy Syndrome
Microphthalmia OMIM:218340
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Kyphoscoliosis, Delayed puberty, Dental crowding, Wide mouth, Left ventricular hypertrophy, Short... ORPHA:466791
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Overfolded helix, Motor stereotypy OMIM:618653
Epidermolysis Bullosa Simplex With Pyloric Atresia
Microtia ORPHA:158684
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system ORPHA:2714
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldol... OMIM:611881
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery sten... OMIM:613001
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Scoliosis, Kyphosis, Cryptorchidism, Aortic valve stenosis, Flexion co... ORPHA:464311
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Kyphosis, Eruption failure ORPHA:476126
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Chronic hemolytic anemia, Respiratory insufficiency, Ventricular hypertrophy,... OMIM:618278
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Osteopenia, Platyspondyly, Joint dislocation, Osteoporosis, Congenital hip disloc... OMIM:225400
Phace Syndrome
Abnormal carotid artery morphology, Aortic root aneurysm, Hypothyroidism, Ectopic thyroid, Coarct... ORPHA:42775
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Impulsivity, Head titubation, EEG abnormality, Bruxism, Aggressive behavior, Agita... OMIM:619475
Pontocerebellar Hypoplasia, Type 2E
Large earlobe OMIM:615851
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Aortic aneurysm, Pancreatic endocrine tumor, Pheochromocytoma, Parathyroid h... ORPHA:805
Pulmonary Alveolar Microlithiasis
Calcification of the aorta, Respiratory insufficiency, Testicular microlithiasis, Stippled calcif... ORPHA:60025
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Hyperactivity, Low-set ears, Hearing impairment, Posteriorly rotated ears, Motor s... OMIM:309590
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:260370
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Mucolipidosis Type Ii
Knee flexion contracture, Limited wrist movement, Limitation of joint mobility, Kyphosis, Restric... ORPHA:576
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Lymphadenopathy, Accessory spleen, Bilateral sensorineural hearing impairment, High palat... OMIM:619418
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Scoliosis, Anterior pituitary hypoplasia, Kyphosis, Cryptorchidism, Aortic val... ORPHA:464306
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Cowden Syndrome 6
Scoliosis, Kyphosis OMIM:615109
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Hyperlordosis, Kyphosis, Joint hypermobility, Long neck OMIM:617011
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Flexion contracture, Kyphosis ORPHA:500055
Geleophysic Dysplasia 1
Osteopenia, Wrist flexion contracture, Joint stiffness, Delayed skeletal maturation, Camptodactyl... OMIM:231050
Infant Botulism
Chronic otitis media, Abnormality of the pharynx, Xerostomia ORPHA:178478
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele ORPHA:1791
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Cockayne Syndrome Type 3
Premature coronary artery atherosclerosis, Aortic root aneurysm, Scoliosis, Stroke, Kyphosis, Fle... ORPHA:90324
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Ventricular septal defect, Low-set ears, Open mouth OMIM:614653
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts, Macular atrophy OMIM:616307
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyphosis, Joint h... OMIM:618050
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Genu varum, Kyphosis ORPHA:1969
Severe Acute Respiratory Syndrome
Pharyngitis, Diabetes mellitus ORPHA:140896
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Hepatic fibrosis, Polycystic liver disease, Bile duct proliferation, Retinal degenerati... OMIM:208500
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Lujo Hemorrhagic Fever
Myocarditis, Stiff neck, Leukocytosis, Pharyngitis, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319213
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Low-set ears, Anal atresia, Asplenia, Cleft upper lip, Cleft pal... OMIM:273395
Multiple Epiphyseal Dysplasia Type 4
Abnormal pinna morphology, Low-set ears, Abnormal earlobe morphology ORPHA:93307
Ramon Syndrome
Juvenile rheumatoid arthritis, Scoliosis, Kyphosis, Delayed eruption of teeth OMIM:266270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Transposition of the great arteries, Scoliosis, Pulmonic stenosis, Myocardi... OMIM:253800
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Anemia, Pleural effusion, Leukocytosis, Back pain, Thrombocytopenia, Intracrania... ORPHA:340
2P15P16.1 Microdeletion Syndrome
Scoliosis, Kyphosis, Prominent metopic ridge, Camptodactyly of finger, Patellar dislocation ORPHA:261349
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Low-set ears, Polyphagia, Compulsive behaviors, Facial palsy, Posteriorly rotated ... OMIM:615873
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Motor tics OMIM:619725
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Long philtrum, Thin vermilion border, Thick lower lip vermilion, Scoliosis, Low-set ears, High pa... OMIM:614756
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Flat acetabular roof, Pterygium OMIM:211350
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia ORPHA:2505
Alstrom Syndrome
Accelerated skeletal maturation, Scoliosis, Atherosclerosis, Kyphosis OMIM:203800
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Stickler Syndrome
Advanced eruption of teeth, Reduced bone mineral density, Genu valgum, Spondylolisthesis, Joint d... ORPHA:828
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Aspartylglucosaminuria
Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Pathologic fracture, Scoliosis, Ky... OMIM:208400
Microphthalmia With Limb Anomalies
Optic atrophy, Microphthalmia, Cryptorchidism, True anophthalmia ORPHA:1106
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Delayed skeletal maturation, Accelerated skeletal maturation ORPHA:93317
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Anterior wedging of T12, Hypergonadotropic hypogonadism,... OMIM:227645
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Long philtrum, Genu valgum, Scoliosis, Hyperlordosis, Patent foramen ovale, High ... ORPHA:363700
Vater/Vacterl Association
Occipital encephalocele, Transposition of the great arteries, Patent ductus arteriosus, Spina bif... OMIM:192350
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Selective Igm Deficiency
Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased propo... ORPHA:331235
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... ORPHA:449432
Ablepharon-Macrostomia Syndrome
Hypoplastic nipples, Microtia, third degree, Low-set ears, Camptodactyly, Short upper lip, Hearin... OMIM:200110
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, EEG with focal sharp waves, EEG with series of focal spikes, Repet... ORPHA:522077
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Dilated cardiomyopathy, Ventric... ORPHA:26793
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Cowden Syndrome 1
Scoliosis, Kyphosis OMIM:158350
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Myxomatous mitral valve degeneration, Bicuspid aortic valve, Recur... OMIM:194050
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphoscoliosis, Limitation of joint mobility, Kyphosis, Lumbar hyperlordosis, Joint hypermobility... ORPHA:457359
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Contractures of the large joints, Kyphosis ORPHA:521426
17Q11 Microdeletion Syndrome
Osteopenia, Beaking of vertebral bodies T12-L3, Webbed neck, Abnormality of the vertebral column,... ORPHA:97685
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Lowe Oculocerebrorenal Syndrome
Rickets, Wrist swelling, Joint contracture of the hand, Genu valgum, Pathologic fracture, Scolios... OMIM:309000
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Delayed cranial suture closure, Kyphosis, Coronal craniosynostosis, Delayed sk... ORPHA:85199
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Coloboma, Cryptorchidism OMIM:607932
Eisenmenger Syndrome
Atrioventricular canal defect, Hypochromic microcytic anemia, Iron deficiency anemia, Increased m... ORPHA:97214
Spondyloepimetaphyseal Dysplasia, X-Linked
Limited elbow extension, Delayed ossification of carpal bones, Flat acetabular roof, Kyphosis, An... OMIM:300106
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... OMIM:150400
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Refsum Disease
Microphthalmia ORPHA:773
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, EEG with generalized slow activity, Motor stereotypy OMIM:300672
Camurati-Engelmann Disease
Genu valgum, Delayed eruption of teeth, Abnormality of the vertebral column, Bone pain, Scoliosis... ORPHA:1328
Fanconi Anemia, Complementation Group D2
Attention deficit hyperactivity disorder, Annular pancreas, Cryptorchidism, Microphthalmia OMIM:227646
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Scoliosis, Delayed cranial suture closure, Wormian bones, ... OMIM:278250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Kyphosis OMIM:617527
Mercury Poisoning
Respiratory failure ORPHA:330021
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Familial Gestational Hyperthyroidism
Hyperactivity, Goiter, Agitation, Thyroid hyperplasia ORPHA:99819
Renal Agenesis
Ventricular septal defect, Oligohydramnios, Anal atresia ORPHA:411709
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy OMIM:610921
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Ulnar-Mammary Syndrome
Delayed puberty, Abnormality of the wrist, Breast aplasia, Ectopic anus, Hypoplastic nipples, Ana... ORPHA:3138
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Scoliosis, Osteoporosis, Kyphosis, Flexion contracture ORPHA:398069
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Marked delay in bone age, Osteoporosis, Kyphosis, Contracture of the proximal interph... ORPHA:2232
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture OMIM:619708
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Congenital Disorder Of Glycosylation, Type Iiaa
Patent ductus arteriosus after premature birth, Ventricular septal defect OMIM:620454
Shwachman-Diamond Syndrome 2
Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly OMIM:617941
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis OMIM:619005
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele OMIM:619148
Mend Syndrome
Redundant neck skin, Sacral dimple, Long neck, Kyphosis OMIM:300960
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Pancreatic fibrosis OMIM:232220
Leprosy
Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology, Enlarged perip... ORPHA:548
Adams-Oliver Syndrome
Microphthalmia, Encephalocele ORPHA:974
Sotos Syndrome
Chronic otitis media, Kyphosis, Agenesis of permanent teeth, Abnormal heart morphology, Craniosyn... ORPHA:821
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Scoliosis, Cryptorchidism, Precocious puberty, Intestinal malrotation, Volvulus, Hypoplastic phil... OMIM:616682
Dyskeratosis Congenita
Abnormality of the pharynx, Periodontitis, Abnormality of the dentition, Tracheoesophageal fistul... ORPHA:1775
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Cholelithiasis, Coloboma, Retinal atrophy ORPHA:97297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibrosis, Hepatic s... OMIM:616263
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Neurofibromatosis Type 1
Osteopenia, Genu valgum, Scoliosis, Kyphosis, Joint stiffness, Arterial stenosis, Recurrent fract... ORPHA:636
Nocardiosis
Abnormality of the adrenal glands, Abnormal heart valve morphology, Thyroiditis, Pleural effusion... ORPHA:31204
Prader-Willi Syndrome
Osteopenia, Genu valgum, Scoliosis, Osteoporosis, Kyphosis OMIM:176270
Lassa Fever
Hearing impairment, Pharyngitis ORPHA:99824
Martsolf Syndrome 1
Microphthalmia OMIM:212720
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomega... OMIM:619991
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Neurodegeneration With Brain Iron Accumulation 2A
Reduced social reciprocity OMIM:256600
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pan... ORPHA:93111
Frontonasal Dysplasia 2
Microphthalmia, Encephalocele OMIM:613451
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Increased intervertebral space, Sclerosis of skull base OMIM:619727
Histiocytoid Cardiomyopathy
Pulmonary edema, Stroke-like episode, Cleft palate, Cardiomegaly, Polycystic ovaries, Ventricular... ORPHA:137675
Genitopatellar Syndrome
Atrial septal defect, Anal stenosis, Delayed eruption of teeth, Scoliosis, Anal atresia, Congenit... OMIM:606170
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Ankle clonus ORPHA:171629
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Retrognathia, Anemia, Abnormality of the endocrine system, Increased circulating prolactin concen... ORPHA:438213
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood, Patent urachus OMIM:618252
Bacterial Toxic-Shock Syndrome
Myocarditis, Increased circulating myelocyte count, Sinusitis, Pharyngitis, Thrombocytopenia, Inc... ORPHA:36234
Cockayne Syndrome
Scoliosis, Kyphosis, Congenital contracture, Retinal arteriolar constriction, Contractures of the... ORPHA:191
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Abnormality of the pharynx, Sensorineural hearing impairment ORPHA:3217
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Uplifted earlobe OMIM:618548
Joubert Syndrome 2
Microphthalmia, Encephalocele OMIM:608091
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Kyphosis OMIM:619482
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ectopic anterior pituitary gland, Ventricular septal defect, Patent ductus ... OMIM:620558
Rat-Bite Fever
Myocarditis, Anemia, Parotitis, Lymphadenitis, Pharyngitis, Pericarditis, Endocarditis ORPHA:31205
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory failure OMIM:610913
Alg11-Cdg
Reduced social reciprocity ORPHA:280071
Ebola Hemorrhagic Fever
Pharyngitis, Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:319218
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Limb Body Wall Complex
Short umbilical cord, Ectopia cordis, Anencephaly, Encephalocele, Spina bifida occulta, Myelomeni... ORPHA:2369
Johanson-Blizzard Syndrome
Hypoplasia of the primary teeth, Primary hypothyroidism, Sensorineural hearing impairment, Agenes... OMIM:243800
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Primrose Syndrome
Superiorly displaced ears, Tics, Calcification of the auricular cartilage, Hearing impairment, Ma... OMIM:259050
Sporadic Infantile Bilateral Striatal Necrosis
Pharyngitis, Recurrent upper respiratory tract infections ORPHA:225147
Joubert Syndrome 6
Motor stereotypy OMIM:610688
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Cutis Laxa, Autosomal Dominant 1
Long philtrum, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Penile Agenesis
Rectal fistula, Anal atresia, Tracheoesophageal fistula, Cryptorchidism, Posteriorly rotated ears... ORPHA:49
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Dysphagia, Motor stereotypy OMIM:619777
Papillorenal Syndrome
Microphthalmia OMIM:120330
Oral Submucous Fibrosis
Abnormality of the pharynx ORPHA:357154
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Depression, Emotional lability, Compulsive behaviors, Polyphagia, Reduced social reci... ORPHA:293987
Plague
Glossitis, Hearing impairment, Inflammation of the large intestine, Enterocolitis, Pharyngitis, I... ORPHA:707
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic atrophy, Pancreatic hypo... OMIM:137920
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:79138
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Encephalocele OMIM:616300
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Intervertebral disk degeneration, Multiple small vertebral fractures, Premature oste... ORPHA:93311
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Kyphosis, Delayed skeletal ma... ORPHA:2273
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Umbilical hernia ORPHA:2166
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Nmda Receptor Encephalitis
Orthostatic tachycardia, Agitation, EEG with temporal sharp slow waves, Orthostatic hypotension, ... ORPHA:217253
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Coffin-Lowry Syndrome
Lumbar kyphosis, Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Delayed skeletal m... OMIM:303600
Histidinemia
Hyperactivity ORPHA:2157
Leptospirosis
Pharyngitis, Pericarditis, Papilledema ORPHA:509
Cowden Syndrome
Scoliosis, Kyphosis ORPHA:201
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Subglottic stenosis, Anal stenosis, Anterior pituitary hypopl... OMIM:181450
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Acromegaly
Joint swelling, Spinal canal stenosis, Osteoarthritis, Kyphosis ORPHA:963
Somatomammotropinoma
Joint swelling, Spinal canal stenosis, Osteoarthritis, Kyphosis ORPHA:314769
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Early Infantile Epileptic Encephalopathy
Precocious puberty, Ventricular septal defect, Umbilical hernia ORPHA:1934
Fanconi Anemia
Umbilical hernia, Microphthalmia, Aplasia/Hypoplasia of the iris, Spina bifida ORPHA:84
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Occipital meningocele OMIM:610828
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Steinfeld Syndrome
Microphthalmia OMIM:184705
Traboulsi Syndrome
Microphthalmia OMIM:601552
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormality of the pharynx, Xerostomia, Intestinal perforation, Oral synechia, Pharyngitis, Abnor... ORPHA:95455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Pmm2-Cdg
Kyphoscoliosis, Osteopenia, Osteoporosis, Intracranial hemorrhage, Platyspondyly, Joint hypermobi... ORPHA:79318
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Holoprosencephaly 1
Microphthalmia OMIM:236100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Alström Syndrome
Lumbar scoliosis, Accelerated skeletal maturation, Kyphosis, Thoracic scoliosis ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tbx1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tbx1.

No publications found that use IMPC mice or data for Tbx1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tbx1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Tbx1tm364528(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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