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Gene: Fuz MGI:1917550

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Gene Summary

Name:
fuzzy planar cell polarity protein
Synonyms:
b2b1273Clo,  2600013E07Rik

Order Alleles

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
cleft palate Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal tail morphology Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal facial morphology Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal neural tube morphology Fuzem1(IMPC)Mbp HOM E9.5 0.00
polydactyly Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal optic vesicle formation Fuzem1(IMPC)Mbp HOM E9.5 0.00
edema Fuzem1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Fuzem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal heart looping Fuzem1(IMPC)Mbp HOM E9.5 0.00
syndactyly Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Fuzem1(IMPC)Mbp HOM E15.5 0.00
facial cleft Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Fuzem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Fuzem1(IMPC)Mbp HOM E9.5 0.00
anophthalmia Fuzem1(IMPC)Mbp HOM E15.5 0.00
abnormal limb morphology Fuzem1(IMPC)Mbp HOM E15.5 0.00

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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

75 Images

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

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

25 Images

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Gross Morphology Embryo E14.5-E15.5

Images

12 Images

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Gross Morphology Embryo E9.5

Images

8 Images

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Human diseases caused by Fuz 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 associated to Fuz by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Caudal Regression Syndrome
Abnormal iliac wing morphology, Abnormal pelvic girdle bone morphology, Missing ribs, Pulmonary h... ORPHA:3027
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Abnormal lung morphology, Congenital malformation of t... ORPHA:294975
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia, Hypoplastic left atrium, Intestina... OMIM:615524
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Aganglionic megacolon, Pulmonary valve atresia, Atrioven... ORPHA:210122
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Coloboma, Cleft upper lip, Holopro... OMIM:601357
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Coloboma, Cleft upper lip, Cleft palate, Tessier number 4 fac... OMIM:600251
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Bilateral single transverse palmar creas... ORPHA:1120
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi... ORPHA:1104
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele, Tetralogy of Fallot, Lower ... OMIM:613630
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera... OMIM:600776
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri... ORPHA:83451
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... ORPHA:3352
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv... OMIM:265380
Microphthalmia/Coloboma 5
Orofacial cleft, Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly, Chori... OMIM:611638
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Abnormal heart valve morphology, Arachnodactyly, Flex... ORPHA:171719
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal gastrointestinal tract morphology,... ORPHA:2847
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Orofaciodigital Syndrome Ii
Hydrocephalus, High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Conductive he... OMIM:252100
Holoprosencephaly 9
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hy... OMIM:610829
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Atrioventricular canal defect, Esophageal atresia, Proximal ... OMIM:314390
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal m... ORPHA:2538
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema, Arachnodactyly, Abnormal heart morphology, Hip disloc... OMIM:614100
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Encephalocele, Narrow chest, Hydrocephalus, Short thorax, Microme... ORPHA:93274
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Microphthalmia, Low-set ears, Anterior basal encephaloc... OMIM:136760
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Microtia, Stenosis of the external auditory canal, Glossoptosis, Everted lower l... OMIM:616367
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ... ORPHA:228190
Congenital Contractural Arachnodactyly
Aortic aneurysm, High palate, Tracheoesophageal fistula, Congenital contracture, Intestinal malro... ORPHA:115
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of the 5th finger, Om... OMIM:601163
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial ef... OMIM:613885
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, C... OMIM:246560
Czeizel-Losonci Syndrome
Dextrocardia, Hitchhiker thumb, Single transverse palmar crease, High palate, Aplasia of the left... ORPHA:2437
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal me... ORPHA:2631
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Short toe, Brachyda... OMIM:604381
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerv... OMIM:607597
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Hypoplasia of the diaphragm, Abnormal heart morpholog... ORPHA:185
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnorm... ORPHA:2972
17Q12 Microduplication Syndrome
Microphthalmia, Finger syndactyly, Tracheoesophageal fistula, Cleft palate, Toe syndactyly, Atria... ORPHA:261272
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Abnormal aortic morphology, Cleft ... ORPHA:1166
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li... ORPHA:401942
Congenital Tracheomalacia
Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Cardiomegaly, Bronch... ORPHA:95430
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Myelomeningocele, Ovarian cyst, Tongue nodules, Alveolar ridge overgrowth... OMIM:311200
Tetraamelia Syndrome 2
Glossoptosis, Absent nipple, Ankyloglossia, Low-set ears, Micrognathia, Cleft palate, Microretrog... OMIM:618021
Catel-Manzke Syndrome
Chronic otitis media, Low-set, posteriorly rotated ears, Glossoptosis, Oral synechia, Joint stiff... ORPHA:1388
Cocaine Embryofetopathy
Short distal phalanx of finger, Thoracoabdominal eventration, Encephalocele ORPHA:1911
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyl... ORPHA:952
Meacham Syndrome
Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the great arteries, Access... OMIM:608978
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Abnormality of the humerus, Aplasia/Hypoplasia affec... ORPHA:1794
Hydrolethalus
Retrognathia, Gingival cleft, Microphthalmia, Anencephaly, Low-set, posteriorly rotated ears, Ano... ORPHA:2189
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broa... ORPHA:380
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Enamel hypoplasia,... OMIM:618874
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis ORPHA:2776
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Cleft palate, Abnormal heart mo... OMIM:239800
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Short ribs, Postaxial hand polydactyly, Micromelia, Pulmo... OMIM:241800
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao... OMIM:217095
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Abnormal heart morphology, Brachydactyly, Clinodactyly OMIM:233270
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta, ... ORPHA:1923
Aarskog-Scott Syndrome
Long philtrum, Orofacial cleft, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Abn... ORPHA:915
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression ORPHA:85168
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Cleft palate, Double outlet right ventric... OMIM:231060
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbital encephalocele, Congenital hip di... OMIM:164180
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Hydrocephalus, Decreased skull ossification, Ankyloglossia, Death in in... OMIM:602361
Cerebrooculonasal Syndrome
Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, Anophthalmia, High... ORPHA:66625
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Premature loss of teeth, Osteoporosis of vertebrae, Hypopl... OMIM:156510
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Truncus arteriosus, Ventricular septal defect, Hydranencephaly OMIM:601355
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microphthalmia, Small earlobe, Oligodontia, Exaggerated cupid's bow, Long ... ORPHA:364577
Dk Phocomelia Syndrome
Phocomelia, Encephalocele OMIM:223340
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Orofacial Cleft 15
Palate fistula, Bilateral cleft palate, Low-set ears, Protruding ear, Cryptorchidism, Agenesis of... OMIM:616788
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Femoral retroversion, Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion co... OMIM:616531
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Low-set ears, Ankyloglossia, Unilateral cryptorchidism, Heari... OMIM:174300
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Lujan-Fryns Syndrome
Protruding ear, Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Low-s... ORPHA:776
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A, Encephalocele ORPHA:1003
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Esophageal atresia, Optic disc hypoplasia, Tracheoesophageal fistula, Bil... OMIM:300514
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation... OMIM:611134
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Dental crowding, Agenesis of maxillary incisor, High palate, Low-set e... OMIM:620545
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Delayed eruption of teeth, Mandibular prog... OMIM:265900
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, High, narrow palate, Hydrocephalus, Midgut malrotation, Low-set ears, T... ORPHA:2409
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Cleft p... ORPHA:1248
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Microphthalmia, Sandal gap, Ventricular hypertrophy, Tetralogy o... OMIM:300887
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Anencephaly 2
Anencephaly, Anophthalmia, Median cleft palate, Cleft maxillary alveolar ridge, Median cleft uppe... OMIM:619452
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Flexion contracture of f... OMIM:617194
Stickler Syndrome Type 1
Long philtrum, Sensorineural hearing impairment, Hypoplasia of the maxilla, Cleft palate, Osteoar... ORPHA:90653
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
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
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal ... ORPHA:141127
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Hepatomegaly, Truncus arteriosus, Cholestasis, Fe... OMIM:615415
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Crouzon Syndrome
Narrow palate, Hydrocephalus, Multiple suture craniosynostosis, Hypoplasia of the maxilla, Hearin... ORPHA:207
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Opitz Gbbb Syndrome
Tracheoesophageal fistula, Umbilical hernia, Long philtrum, Ventriculomegaly, Craniosynostosis, D... ORPHA:2745
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Bell-shaped t... OMIM:616300
Orofaciodigital Syndrome Type 2
Protruding ear, Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of centr... ORPHA:2751
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... OMIM:603194
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly, Syndactyly OMIM:615938
Lowry-Maclean Syndrome
Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyl... ORPHA:1692
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Vaginal hernia, Arachnodactyly, Cleft palate, ... ORPHA:96129
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Microtia, Glossoptosis, Thyroid hypoplasia, Tracheoesophageal fistu... ORPHA:861
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Frontorhiny
Microphthalmia, Low-set, posteriorly rotated ears, Encephalocele, Diabetes insipidus, Hypoplastic... ORPHA:391474
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Mosaic Trisomy 9
Rocker bottom foot, Microphthalmia, Intestinal malrotation, Oligohydramnios, Hip dislocation, Hyd... ORPHA:99776
Delpire-Mcneill Syndrome
Ventricular septal defect, Dysphagia, Tracheoesophageal fistula, Hip dislocation OMIM:619083
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Intestinal malrotation, ... ORPHA:3032
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Protr... ORPHA:85279
Cleft Velum
Recurrent otitis media, Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairme... ORPHA:99772
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hallux, 2-3 finger sy... OMIM:217085
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Patent ductus arteriosus ORPHA:99811
20P12.3 Microdeletion Syndrome
Microtia, Narrow mouth, Hypoplasia of the maxilla, Malar flattening, Long philtrum, Ventriculomeg... ORPHA:261295
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormal ilium morphology, Narrow chest, Ventriculomegaly, Hydroc... ORPHA:2655
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Gingival fibromatosis, Delayed eruption of... ORPHA:2027
Auriculocondylar Syndrome 4
Narrow mouth, Glossoptosis, Question mark ear, Hearing impairment, Micrognathia, Cleft palate OMIM:620457
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Anorectal anomaly, Finger syndac... ORPHA:887
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Pu... OMIM:616867
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Sensorineural hearing impairment, Enamel hypopla... OMIM:166750
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, Pulmonary art... ORPHA:401935
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Encephalocele, Narrow chest, Hydrocephalus, Short ribs, Short long ... OMIM:224400
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Clubbing of fingers, Hydrocephalus, Hypoplastic pubic bone, Narrow chest, Short ri... ORPHA:1865
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Right atrial isomerism, Transposition of the grea... OMIM:208530
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philt... OMIM:211380
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Tetralogy of Fallot, Encephalocele ORPHA:217
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Limitation of joint mobility, Abnormali... ORPHA:178303
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Microphthalmia ORPHA:324416
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Auriculocondylar Syndrome 1
Dental malocclusion, Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypopla... OMIM:602483
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... OMIM:184260
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointes... ORPHA:1834
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atrial septal defect,... OMIM:249670
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Clinodacty... ORPHA:1786
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Tracheoesophageal fistula, Abnormal mesentery morphology, Abn... ORPHA:93941
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Protruding ear, Thin upper li... OMIM:618737
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Parachute mitral valve, Mesenteric cyst, Gastroesophageal reflux, Long toe,... OMIM:618316
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine aminotransferase conc... OMIM:613759
Pycnodysostosis
Joint hypermobility, Delayed eruption of primary teeth, Decreased response to growth hormone stim... ORPHA:763
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Kinsship Syndrome
Osteopenia, Thick lower lip vermilion, Widely spaced teeth, Short philtrum, Dandy-Walker malforma... OMIM:619297
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Increased overbite, Microtia, Camptodactyly, Cleft ... OMIM:618761
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate, Natal tooth OMIM:217150
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the ph... ORPHA:2863
Acces Syndrome
Clinodactyly of the 5th finger, Ectrodactyly, Tracheoesophageal fistula, Split foot, Hip dysplasi... OMIM:619959
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad... ORPHA:3268
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Microphthalmia, Tracheomalacia, Tracheoesophageal fistula, Foot ... ORPHA:268249
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Clinodactyly of the 5th finger, Esophageal atresia, Tracheoesophageal fi... OMIM:301030
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasi... ORPHA:1908
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchh... OMIM:256050
Fliedner-Zweier Syndrome
Hypoplastic aortic arch, High palate, Anal atresia, Tracheoesophageal fistula, Bicuspid aortic va... OMIM:620511
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Hypoplasia of the radius, Hypoplasia of ... ORPHA:958
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Bilateral single transverse palmar creases, Truncus arteriosus, Abnormal ... ORPHA:2516
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula, Patent ductus arteri... ORPHA:77298
Schisis Association
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Anal atresia, Omphalocele, Micromelia... ORPHA:63862
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size ORPHA:93950
Joubert Syndrome 16
Polydactyly, Dandy-Walker malformation, Encephalocele OMIM:614465
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Aglossia, Pu... OMIM:241310
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, High pala... ORPHA:1307
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pul... ORPHA:2140
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Abnormality of canine, Tarsal synostosis, Abnormally large globe, ... ORPHA:363417
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius ORPHA:2117
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Coarctation of aorta, Tracheal atresia, Patent ductus arteriosus, Abnorm... OMIM:601612
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Hydrocephalus, Finger syndactyly, Congenital hip dislocation, Apl... ORPHA:1647
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Death in infancy, Wide mouth, Umbilical hernia, Long philtrum, Low-set, pos... ORPHA:1507
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Micrognathia, Cleft palate, Microglossia ORPHA:141152
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Pulmonary hypoplasia, Malrotation of small bo... ORPHA:139466
W Syndrome
Camptodactyly, Upper lip pit, Submucous cleft hard palate, Broad uvula, Agenesis of maxillary cen... ORPHA:2804
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Oligodontia, Mandibular prognathia, Microdontia, Hy... OMIM:601216
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal tibia morphology, Split hand, Omphalocele, Abnormal per... ORPHA:1335
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Microphthalmia, Anencephaly, Encephalocele, Patent ductus arteriosus,... OMIM:619148
Crouzon Syndrome
Lambdoidal craniosynostosis, Hydrocephalus, Dental crowding, Mandibular prognathia, High palate, ... OMIM:123500
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal hemidiaphragm morphology, Patellar hypoplasia, Dextrocardia, Abnormal trac... ORPHA:2257
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness OMIM:607641
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Meacham Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Situs inversus totalis, Transposition of... ORPHA:3097
Apert Syndrome
Narrow palate, Ovarian neoplasm, Esophageal atresia, Delayed eruption of teeth, Hydrocephalus, Se... ORPHA:87
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Narrow greater sciatic notch, Periportal... OMIM:263210
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Postaxial hand polydactyly, Camp... OMIM:614175
2Q24 Microdeletion Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Short philtrum, Abnormal oral frenulum morphol... ORPHA:1617
Thanatophoric Dysplasia, Type I
Narrow chest, Short greater sciatic notch, Hydrocephalus, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
1Q21.1 Microdeletion Syndrome
Long philtrum, Microphthalmia, Hydrocephalus, Sensorineural hearing impairment, High palate, Anky... ORPHA:250989
Crossed Polysyndactyly
Finger syndactyly, Abnormality of the philtrum, Postaxial hand polydactyly, Aplasia/Hypoplasia of... ORPHA:2935
Robinow Syndrome
Mixed hearing impairment, Broad alveolar ridges, Dental crowding, Fused thoracic vertebrae, Umbil... ORPHA:97360
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Decreased pineal volume, Death in childhood, Hypoplasia of the maxilla, Enterocol... OMIM:301108
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Dental malocclusion, Tongue atrophy OMIM:141300
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... OMIM:620642
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Cupped ear ORPHA:93945
Renal Tubular Dysgenesis
Bilateral single transverse palmar creases, Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear, Hydrocephalus OMIM:618302
Distal Deletion 13Q
Abnormality of the hand, Abnormal metacarpal morphology, Anencephaly, Encephalocele, Aplasia/Hypo... ORPHA:1590
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Trisomy 13
Bilateral single transverse palmar creases, High, narrow palate, Hydrops fetalis, Microphthalmia,... ORPHA:3378
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Nager Syndrome
Abnormal palate morphology, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip... ORPHA:245
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Mixed hearing impairment, Microtia, Thyroid hypoplasia, Bifid uvula, Broad philtr... OMIM:620186
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Malar... ORPHA:166100
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident ... OMIM:614815
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Sensorineural hearing impairment, Narrow mouth ORPHA:1529
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Mandibular prognathia, Cryptorchidism, Hearing imp... ORPHA:90322
Intellectual Developmental Disorder, Autosomal Dominant 73
Retrognathia, Microtia, Everted lower lip vermilion, Broad philtrum, Joint hypermobility, Short p... OMIM:620450
Constricting Bands, Congenital
Tessier cleft, Ectopia cordis, Encephalocele, Cleft upper lip, Hand polydactyly, Cleft palate, Sy... OMIM:217100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Hypoplasia of the maxilla, Macrotia, Flexion contracture, Agenesis of corpus callosu... OMIM:218000
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Palmoplantar blistering OMIM:226735
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Abnormal earlobe morphology, Sensorineural hearing impairment, Narrow mouth,... ORPHA:261330
Esophageal Atresia
Anorectal anomaly, Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Clin... ORPHA:1199
Enlarged Parietal Foramina
Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Broad thumb, Abn... ORPHA:60015
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the panc... ORPHA:2470
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High pa... ORPHA:50814
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Scapular winging, High palate, Camptodactyl... OMIM:617468
Helsmoortel-Van Der Aa Syndrome
Everted lower lip vermilion, Microdontia, Wide mouth, Lateral ventricle dilatation, Long philtrum... OMIM:615873
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Hydrocephalus, Hypoplasia of the maxilla, Conductive hearing impairme... ORPHA:93262
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Short philtrum, Hydrocephalus, Mandibular prognathia, Everted lower lip vermilion,... OMIM:601499
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, High palate OMIM:300676
Angel-Shaped Phalango-Epiphyseal Dysplasia
Joint hypermobility, Hypodontia, Hip osteoarthritis, Delayed eruption of teeth ORPHA:63442
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Coronary sinus enlargement, Intestinal malrotation, ... OMIM:618280
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Mesomelic/rhiz... ORPHA:1354
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Dentin... ORPHA:71267
Frontofacionasal Dysplasia
Tessier cleft, Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Cleft palate, I... ORPHA:1791
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Microphthalmia/Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Infantile Myofibromatosis
Abnormal metaphysis morphology, Intestinal obstruction, Neoplasm of the pancreas, Abnormal intest... ORPHA:2591
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2026
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short ribs, Femoral bowing, Short long... OMIM:615503
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Microcolon, Intestinal malrotation, Pulmonic st... OMIM:600001
Otopalatodigital Syndrome Type 2
Myelomeningocele, Flared iliac wing, Abnormal cardiac septum morphology, Fibular aplasia, Tarsal ... ORPHA:90652
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Microphthalmia, Delayed eruption of teeth... OMIM:257850
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Narrow palate, Abnormal lung lobation, Abnormal femur morphology... ORPHA:2063
Alg3-Cdg
Decreased liver function, Abnormality of the gastrointestinal tract, Coarctation of the descendin... ORPHA:79321
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Cardiomegaly, Right aor... ORPHA:980
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... OMIM:607361
Bowen-Conradi Syndrome
Abnormal lung lobation, Rocker bottom foot, Clinodactyly of the 5th finger, Camptodactyly of fing... ORPHA:1270
Lissencephaly 8
Occipital encephalocele, Ventriculomegaly, Microphthalmia, Talipes equinovarus OMIM:617255
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Anophthalmia, Hydrocephalus, Narrow mouth, Anal atresia, Increas... ORPHA:261344
Hereditary Acrokeratotic Poikiloderma
Trismus, Open bite, Gingival bleeding, Abnormality of the dentition, Gingivitis, Narrow mouth, An... ORPHA:2907
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Microphthalmia, Death in childhood, Abnormality of the ear, Delayed erupti... OMIM:214150
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Pulmonary hypoplasia, Thoracic hypoplasia OMIM:613124
Cohen Syndrome
Delayed puberty, High, narrow palate, Decreased response to growth hormone stimulation test, Shor... OMIM:216550
Holt-Oram Syndrome
Pectus excavatum, Broad thumb, Absent thumb, Abnormal clavicle morphology, Abnormal metacarpal mo... ORPHA:392
Trisomy 8Q
Orofacial cleft, Low-set, posteriorly rotated ears, Bone cyst, Non-midline cleft of the upper lip... ORPHA:1752
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Hepatomegaly, Abnormal aortic ... ORPHA:860
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Bowing of the long b... ORPHA:85166
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Occipital encephalocele, Oligodactyly, Arachnodactyly OMIM:614416
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metacarpal osteolysis, Carpal osteolysis, Hypoplasia of the maxilla, Metatarsal osteo... OMIM:166300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly OMIM:615937
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Short ribs, Recurrent aspiration pneumonia, A... ORPHA:397715
Verheij Syndrome
Optic nerve hypoplasia, Truncus arteriosus, Branchial cyst, Short 5th finger, Ventricular septal ... OMIM:615583
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Overjet, Retrognathia, Thick lower lip vermilion, Protruding ear, Short philtrum, Dental crowding... OMIM:618342
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Microphthalmia, Hypopl... ORPHA:2092
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Broad finger, Abnormal left ventricle morphology, Premature coronary artery ... OMIM:300845
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Aplasia/Hypoplasia of the phalanges... ORPHA:3474
Terminal Osseous Dysplasia
Abnormal hand bone ossification, Abnormal bone structure, Low-set ears, Camptodactyly of toe, Cam... OMIM:300244
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Bilateral conductive hearing impairment, Ankyloglossia, Hearing impairment, Dow... ORPHA:488642
Coffin-Lowry Syndrome
Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Protru... ORPHA:192
Adams-Oliver Syndrome 6
Truncus arteriosus, Foot oligodactyly, Syndactyly, Brachydactyly, Ventricular septal defect OMIM:616589
Amish Lethal Microcephaly
Cleft soft palate, Limitation of joint mobility, Decreased skull ossification, Osteoporosis, Spin... ORPHA:99742
Axenfeld-Rieger Syndrome
Anal stenosis, Everted lower lip vermilion, Microdontia, Abnormality of the hypothalamus-pituitar... ORPHA:782
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:101800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Narrow chest, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Th... OMIM:151210
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac... OMIM:134780
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Clinodactyly of the 5th finger, Aortic root aneurysm, Finger syndactyly, 2-3 toe sy... OMIM:620025
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Thin vermilion border, Protruding ear, High palate, Low-set ears, Hypoplasia of th... ORPHA:481152
Adams-Oliver Syndrome
Microphthalmia, Arteriovenous malformation, Abnormal metacarpal morphology, Encephalocele, Hydroc... ORPHA:974
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, High palate, Spinal muscular atrophy, Cardiomyopathy, Increased variability... OMIM:616866
Cerebrooculonasal Syndrome
Narrow palate, Solitary median maxillary central incisor, Encephalocele, Anophthalmia, Hydrocepha... OMIM:605627
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate... OMIM:170390
Fryns Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Aganglionic megacolon, Clinodactyly of the 5th f... ORPHA:2059
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Crowded maxillary incisors, Mandibular prognathia ORPHA:397973
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Aarskog-Scott Syndrome
Delayed puberty, Hypodontia, Hyperextensibility of the finger joints, Bilateral cryptorchidism, H... OMIM:305400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Hyperextensibility of the finger joints, Dental crowding, High palate, Low-set ea... OMIM:309520
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Spina bifida occulta, Sensorineural hearing impairment, Abnormal pin... OMIM:201000
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... OMIM:617478
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:109120
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Atrioventricular canal defe... ORPHA:251071
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Abnormal anterior horn cell morphology, Single transverse palmar crease, Hand... OMIM:611890
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Broad thumb, Velopharyngeal insufficiency, Abnormal heart morpho... OMIM:300978
Feingold Syndrome 1
Gastrointestinal atresia, Annular pancreas, Tricuspid atresia, Esophageal atresia, Accessory sple... OMIM:164280
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Delayed puberty, Supernumerary tooth, Abnormal antihelix morphology, Limitation of joint mobility... ORPHA:3145
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S... OMIM:108720
Auriculocondylar Syndrome
Aplasia/Hypoplasia of the external ear, Cleft helix, Abnormality of the temporomandibular joint, ... ORPHA:137888
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Achondrogenesis Type 2
Delayed pubic bone ossification, Narrow chest, Short long bone, Short ribs, Hypoplastic ilia, Mic... ORPHA:93296
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anal fissure, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia, Cariou... ORPHA:89842
Meckel Syndrome, Type 9
Occipital encephalocele, Limb undergrowth, Talipes equinovarus OMIM:614209
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Increased variability in muscle fiber diameter, Pulmonary hypoplasia, Hypertrophic ... OMIM:614096
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... OMIM:620107
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital p... OMIM:611812
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Narrow chest, Hydrocephalus, Halb... ORPHA:2635
Frontonasal Dysplasia 3
Tessier cleft, Microphthalmia, Cleft palate OMIM:613456
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang... OMIM:613849
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening OMIM:613857
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Rhombencephalosynapsis
Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Anal atresia, Tracheoe... ORPHA:59315
Dysostosis, Stanescu Type
Abnormal palate morphology, Increased bone mineral density, Abnormal dental enamel morphology, Ab... ORPHA:1798
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Pectus excavatum, Broad thumb, Bicuspid aortic valve, Sho... ORPHA:508498
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Delayed pubic bone ossification, Delayed ossification of carpal ... OMIM:620099
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Martsolf Syndrome 1
Long philtrum, Microphthalmia, Enlarged sylvian cistern, Short philtrum, Tracheomalacia, Tooth ma... OMIM:212720
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density, Delayed eruption of teeth OMIM:619489
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Retrognathia, Microdontia, Eclabion, Wide mouth, Joint hypermobility, Thickened helices, Short ph... OMIM:619950
Cowden Syndrome 5
Thyroiditis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of t... OMIM:615108
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Abnormal skeletal muscle morphology, Neoplasm of the lung, Tracheoesoph... ORPHA:142
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Emanuel Syndrome
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Truncus arteriosus, Congenital hi... OMIM:609029
Saethre-Chotzen Syndrome
Narrow palate, Abnormal antihelix morphology, Proximal radio-ulnar synostosis, Sensorineural hear... ORPHA:794
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Cut... ORPHA:166024
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Postaxial polydactyly, Vascular ring, Skeletal muscle atrophy, Knee flexi... OMIM:603387
Kagami-Ogata Syndrome
Hepatomegaly, Inguinal hernia, Diastasis recti, Omphalocele, Pulmonic stenosis, Long fingers, Pul... OMIM:608149
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, Encephalocele, 11 pairs of ribs, Hydrocephalus, ... OMIM:264480
Rapp-Hodgkin Syndrome
Recurrent otitis media, Decreased number of sweat glands, Conical tooth, Stenosis of the external... OMIM:129400
Pfeiffer Syndrome
Hydrocephalus, Dental crowding, Mandibular prognathia, High palate, Coronal craniosynostosis, Hum... OMIM:101600
Distal Xq28 Microduplication Syndrome
Absent antihelix, Thick lower lip vermilion, Dental crowding, Short lingual frenulum, Microtia, H... ORPHA:293939
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Low-set ears, Hearing i... OMIM:616078
Cardioacrofacial Dysplasia 1
Short philtrum, Conical tooth, Hypoplasia of the maxilla, Accessory oral frenulum, Diastema OMIM:619142
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnorma... ORPHA:3035
Whistling Face Syndrome, Recessive Form
Trismus, Shoulder flexion contracture, Elbow flexion contracture, Whistling appearance, High pala... OMIM:277720
Fetal Akinesia Deformation Sequence 4
Retrognathia, High palate, Low-set ears, Camptodactyly, Prenatal death, Cryptorchidism, Micrognat... OMIM:618393
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short ribs, Short long bone, Short finger, Hydrocephalus, Short thorax, Patent foram... OMIM:269860
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Rectovaginal fistula, Trach... ORPHA:1780
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, H... ORPHA:1520
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Hydrocephalus, Optic nerve hypoplasia, Mandibular prognathia, Hypoplasia of the max... OMIM:620157
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Mandibular prognathia, High palate, Furrowed tongue, Hypoplasia of the maxilla, D... OMIM:300534
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, High palate, N... OMIM:255320
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... ORPHA:521308
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Furrowed tongue, Tracheoesophageal fistula, Pulmonary fibrosis, Recurrent resp... ORPHA:1839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Unilateral Ocular Duplication
Polyhydramnios, Encephalocele, Midline facial cleft, Cleft palate, Median cleft upper lip, Iris c... ORPHA:3374
Simpson-Golabi-Behmel Syndrome, Type 2
Short finger, Recurrent lower respiratory tract infections, Postaxial hand polydactyly, Broad thu... OMIM:300209
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity,... OMIM:619656
Lethal Congenital Contracture Syndrome 10
Narrow palate, Adducted thumb, Torticollis, Femoral bowing, High palate, Short long bone, Ventric... OMIM:617022
Chilton-Okur-Chung Neurodevelopmental Syndrome
Agenesis of incisor, Widely spaced teeth, Recurrent otitis media, Short philtrum, Sensorineural h... OMIM:619841
Emanuel Syndrome
Atrial septal defect, Delayed eruption of teeth, Hydrocephalus, Dandy-Walker malformation, Truncu... ORPHA:96170
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Exaggerated cupid's bow, Tented uppe... ORPHA:2662
Vacterl With Hydrocephalus
Hypoplasia of the radius, Microphthalmia, Esophageal atresia, Inguinal hernia, Anophthalmia, Femo... ORPHA:3412
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Reduced bone mineral density, Dental crowding, Limitation of movement at ankles, Jo... ORPHA:740
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Short long bone, Bowing of the long bones, Micromelia, Pulmonary hypopla... OMIM:224410
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Preaxial foot po... OMIM:614120
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Distal Duplication 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Thoracic hypo... ORPHA:56304
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, High palate, Chorio... ORPHA:139471
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Abnormality of carpal bo... OMIM:608154
Cowden Syndrome 6
Thyroiditis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of t... OMIM:615109
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Repeated pneumothora... OMIM:617602
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis, Epiphyseal stippling OMIM:614876
Fanconi Anemia
Abnormal carotid artery morphology, Microphthalmia, Abnormal femur morphology, Arteriovenous malf... ORPHA:84
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Esophageal varix, Postaxial polydactyly, Hepatosplenomegaly, M... OMIM:618955
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Anophthalmia, Prominent ear helix, Everted lower lip vermilion, Abnormal spaced i... ORPHA:411986
Cohen Syndrome
Delayed puberty, High, narrow palate, Microphthalmia, Short philtrum, Aplasia/Hypoplasia of the e... ORPHA:193
Skraban-Deardorff Syndrome
Right aortic arch, Cleft palate, Ventricular septal defect OMIM:617616
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Premature loss of teeth, Gingival overgrowth, Mandibul... ORPHA:137834
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele OMIM:611560
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Solitary Median Maxillary Central Incisor
Microphthalmia, Decreased response to growth hormone stimulation test, Solitary median maxillary ... OMIM:147250
Poland Syndrome
Aplasia of the pectoralis major muscle, Asymmetry of the thorax, Abnormal sternum morphology, Pec... ORPHA:2911
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Anterior hypopituitarism, Delayed eruption of teeth, Everted lower l... ORPHA:181
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Auriculocondylar Syndrome 3
Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, G... OMIM:615706
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Gillespie Syndrome
Ventriculomegaly, Truncus arteriosus, Aniridia, Hypoplasia of the iris OMIM:206700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Ventriculomegaly, Short ribs, Pleural effusion, Hypertrophic cardiomyopathy, D... OMIM:616897
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Patent ductus... OMIM:615996
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Abnormal hand morphology, Ventricular septal defect OMIM:122850
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia, Rocker bottom foot, Talipes equinovarus OMIM:616570
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Velocardiofacial Syndrome
Abnormality of the hand, Right aortic arch with mirror image branching, Inguinal hernia, Interrup... OMIM:192430
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Clinodactyly of the ... ORPHA:1001
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Intellectual Disability, Birk-Barel Type
High, narrow palate, Limited elbow flexion/extension, Protruding ear, Short philtrum, Foot joint ... ORPHA:166108
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Low-set ears, Cleft palate, Posteriorly... OMIM:615502
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
48,Xxyy Syndrome
Chronic otitis media, Thick lower lip vermilion, Broad jaw, Delayed eruption of teeth, Abnormal d... ORPHA:10
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Hallux valgus, Truncus arteriosus, Split hand,... ORPHA:2008
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Aplasia of the epiglottis, High palate, Narrow mouth, Low-set ears, C... OMIM:268305
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ... OMIM:619797
Cerebrofacioarticular Syndrome
Osteopenia, Dysplastic corpus callosum, Anal stenosis, Tracheomalacia, Microtia, Narrow mouth, Ca... ORPHA:314679
Coffin-Siris Syndrome 3
Long philtrum, Dandy-Walker malformation, High palate, Hearing impairment, Cleft palate, Wide mou... OMIM:614608
Van Maldergem Syndrome 1
Osteopenia, Tracheomalacia, Sensorineural hearing impairment, Microtia, High palate, Camptodactyl... OMIM:601390
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Coarctation of aorta, Abnormal rib morphology ORPHA:280195
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, High palate, Camptodactyly of finger, Cleft pa... ORPHA:376
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Microphtha... ORPHA:1236
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Flat acetabular roof, Short ribs, Bowing of the long ... OMIM:614091
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta, Bifid sternum OMIM:140850
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma, Microphthalmia OMIM:613094
Meckel Syndrome 14
Pneumothorax, Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the ... OMIM:619879
Microphthalmia With Limb Anomalies
Microphthalmia, Death in infancy, Hypoplasia of the premaxilla, Long philtrum, Joint hypermobilit... ORPHA:1106
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly, Hyperplasia of the maxilla OMIM:618383
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Calvarial osteosclerosis, Triangular mouth, Cleft soft palate, Dental c... OMIM:616331
Jansen-De Vries Syndrome
Gastroesophageal reflux, Central diaphragmatic hernia, Brachydactyly, Bicuspid aortic valve, Vent... OMIM:617450
Parietal Foramina 3
Encephalocele OMIM:609566
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia ORPHA:1540
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Postaxial p... OMIM:614424
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral ... OMIM:245600
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Inguinal hernia, Aortic root aneurysm, Ventricu... OMIM:208050
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Abnormal thalamus morphology, Low-set ears, Abnormal oral frenulum morphology, In... ORPHA:404440
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Posteriorly placed anus, Short long bone, Pulmonic stenosis, Cardiomegaly, Right... OMIM:306955
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Chand Syndrome
Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala... ORPHA:1401
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Joint hypermobility, Dental crowding, Open bite, Hyperplasia of the maxilla OMIM:613671
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Proximal placement of thumb, Anal atr... ORPHA:94065
Marshall Syndrome
Thick lower lip vermilion, Sensorineural hearing impairment, High palate, Abnormality of the dent... ORPHA:560
Cutis Laxa, Autosomal Recessive, Type Ic
Rectal prolapse, Emphysema, Atelectasis, Inguinal hernia, Vascular dilatation, Gastroesophageal r... OMIM:613177
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Bifid uvula... ORPHA:899
Camptodactyly Syndrome, Guadalajara Type 1
Low-set, posteriorly rotated ears, Attached earlobe, Mandibular prognathia, Open bite, High palat... ORPHA:1327
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Low-set ears, Wide mouth, Thick vermilion border, Posteriorly rotated ea... OMIM:618506
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Narrow palate, Hydrocephalus, Abnormal pinna morphology, High palate, Low-set ears, C... OMIM:182212
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit... ORPHA:37553
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Pde4D Haploinsufficiency Syndrome
Long philtrum, Elevated circulating parathyroid hormone level, Short philtrum, Abnormal dental en... ORPHA:439822
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Dandy-Walker malformation, ... OMIM:614607
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Shprintzen-Goldberg Syndrome
Osteopenia, Retrognathia, High, narrow palate, Protruding ear, Low-set ears, Communicating hydroc... ORPHA:2462
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydact... OMIM:612284
Joubert Syndrome 36
Mesoaxial hand polydactyly, Molar tooth sign on MRI OMIM:618763
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Biliary atresia, Pancreatic aplasia, Intestinal malrotation, Pul... ORPHA:2255
Greenberg Dysplasia
Short ribs, Short long bone, Short metacarpal, Mesomelia, Thoracic hypoplasia, Tetraphocomelia, A... OMIM:215140
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Facial palsy, Tracheoesophageal fis... ORPHA:3068
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Narrow chest, Oligodactyly, Missing ribs, Forearm undergrowt... OMIM:251230
Carpenter Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Finger syndactyly, Postaxial hand polydactyly, Bro... ORPHA:65759
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Van Maldergem Syndrome 2
Osteopenia, Tracheomalacia, Sensorineural hearing impairment, Microtia, Hypoplastic nipples, High... OMIM:615546
Achondrogenesis, Type Ia
Hypoplasia of the radius, Bell-shaped thorax, Barrel-shaped chest, Narrow chest, Short thorax, Sh... OMIM:200600
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening OMIM:108721
Renal-Hepatic-Pancreatic Dysplasia 1
Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation, Aortic valve ste... OMIM:208540
Acrodysostosis
Delayed eruption of teeth, Epiphyseal stippling, Mandibular prognathia, Open bite, Hypoplasia of ... ORPHA:950
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... OMIM:610140
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Truncus arteriosus, Absent thumb, Short thumb, Patent ductus arteriosus, Vent... OMIM:617516
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Talipes equinovarus, Joint contracture of the hand OMIM:611067
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Microphthalmia, Solitary median maxillary central incisor, Tooth malp... ORPHA:2712
Cleidocranial Dysplasia
Chronic otitis media, Supernumerary tooth, High, narrow palate, Hearing abnormality, Spina bifida... ORPHA:1452
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, High palate, Coronary-pulmonary artery fis... OMIM:619699
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Abnormal antihelix morpholo... ORPHA:1387
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Triphalangeal thumb, Inguinal hernia, Postaxial hand polydactyly ORPHA:36
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina OMIM:615990
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Dermal sinus tract, Microtia, second degree, Submucous cleft pa... OMIM:620444
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car... OMIM:259600
Duplication Of The Pituitary Gland
Supernumerary tooth, Retrognathia, Encephalocele, Abnormality of joint mobility, Abnormal pituita... ORPHA:314621
Mosaic Trisomy 16
Atrial septal defect, Abnormality of the gastrointestinal tract, Meckel diverticulum, Single tran... ORPHA:1708
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Abnormal pinna morphology, Hypoplasia of the maxilla, Posteriorly rotated ears, Thick vermilion b... ORPHA:228396
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Hearing impairm... OMIM:619736
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa... ORPHA:2521
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Stenosis of the external a... OMIM:209885
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Parietal Foramina 2
Encephalocele OMIM:609597
Metatropic Dysplasia
Narrow greater sciatic notch, Short ribs, Long coccyx, Cupped ribs, Flared iliac wing, Flat aceta... OMIM:156530
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia, Bilateral talipes equinovarus OMIM:618174
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Coloboma, Syndactyly, Brachydactyly, Clinodactyly, Iris coloboma OMIM:610023
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Mesomelia-Synostoses Syndrome
High, narrow palate, Aplasia/Hypoplasia of the uvula, Narrow mouth, Synostosis of carpal bones, S... ORPHA:2496
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Tracheal Agenesis
Tracheal atresia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:3346
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Anencephaly, Narrow chest, Hydrocephalus, Short ribs, Micromelia, Postaxial... OMIM:616546
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Intestinal malrotation,... OMIM:613684
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult... ORPHA:171430
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Pyloric stenosis, P... OMIM:614262
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Arteria lusoria, Hypoplasia of right ventricle, Left aortic arch with ce... OMIM:212093
Craniometadiaphyseal Dysplasia
Osteopenia, Abnormally large globe, Dental crowding, Mandibular prognathia, High palate, Low-set ... OMIM:269300
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Proximal placement of thumb, Campt... ORPHA:1488
Cowden Syndrome 1
Thyroiditis, Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of t... OMIM:158350
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Dextrocardia, Glossitis, High palate, Tracheoesophageal fistula, Patent ductus arte... OMIM:277380
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Bartsocas-Papas Syndrome 2
Microphthalmia, Bilateral cleft palate, Low-set ears, Overfolded helix, Micrognathia, Accessory o... OMIM:619339
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Distal Deletion 15Q
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w... ORPHA:1596
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Hearing impairment, Cleft palate, Low-set ears OMIM:614261
Zaki Syndrome
Congenital diaphragmatic hernia, Broad distal phalanx of finger, Patent foramen ovale, High palat... OMIM:619648
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Flat acetabula... ORPHA:1801
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Slender long bone, Abnormal rib morphology, Pulmonary hypoplasia, A... ORPHA:1486
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot... OMIM:263520
Ear-Patella-Short Stature Syndrome
Retrognathia, Bifid uvula, Joint hypermobility, Craniosynostosis, Microtia, third degree, Hearing... ORPHA:2554
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Osteopetrosis, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth... ORPHA:2780
Neuroocular Syndrome
Retrognathia, Microphthalmia, Widely spaced teeth, Short uvula, Increased overbite, Hyperextensib... OMIM:619539
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Esophageal atresia, Tracheoesophageal fistula, Aplasia of the 1... OMIM:227646
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate, Hypoplastic left heart OMIM:236110
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Thin vermilion border, Microphtha... OMIM:601812
Phaver Syndrome
Triphalangeal thumb, Hypoplastic aortic arch, Pulmonary artery atresia, Broad thumb, Camptodactyl... ORPHA:2876
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Inguinal hernia, Ascending tubular aorta aneurysm, Ar... OMIM:219100
Nablus Mask-Like Facial Syndrome
Retrognathia, Small earlobe, Hypoplastic nipples, High palate, Everted lower lip vermilion, Campt... OMIM:608156
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, 2-3 toe syndactyly, High palate, Umbilical hernia, Recurrent upp... ORPHA:284180
Tetrasomy 12P
Long philtrum, Abnormal soft palate morphology, Delayed eruption of teeth, Everted lower lip verm... ORPHA:884
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased T3/T4 ratio, Congenital hypothyroidism, Macroglossia, Impair... OMIM:614450
Meier-Gorlin Syndrome 5
Small earlobe, Microtia, Low-set ears, Hypoplasia of the maxilla, Micrognathia, Thick vermilion b... OMIM:613805
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Sandal gap, High palate, Cleft palate, Pulmonary... OMIM:612530
Limb Body Wall Complex
Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Myelomeningocele, Split foot,... ORPHA:2369
Clark-Baraitser syndrome
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... OMIM:300602
Agnathia-Otocephaly Complex
Tracheomalacia, Synotia, Narrow mouth, Mandibular aplasia, Low-set ears, Conductive hearing impai... OMIM:202650
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Biemond Syndrome Type 2
Hydrocephalus, Coloboma, Microphthalmia, Preaxial polydactyly ORPHA:141333
Bent Bone Dysplasia Syndrome 1
Abnormally large globe, Gingival overgrowth, Low-set ears, Coronal craniosynostosis, Decreased ca... OMIM:614592
Marden-Walker Syndrome
High, narrow palate, Microphthalmia, Dextrocardia, Inguinal hernia, High palate, Camptodactyly, C... OMIM:248700
Zimmermann-Laband Syndrome
Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, Hypodontia, Sensorin... ORPHA:3473
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic... ORPHA:1457
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi... ORPHA:2476
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Hydrocephalus, Postaxial hand polydactyly, 3-4 finger s... OMIM:175700
Myhre Syndrome
Thin vermilion border, Gingival cleft, Craniofacial hyperostosis, Mandibular prognathia, Narrow m... ORPHA:2588
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth OMIM:612463
Seckel Syndrome 9
Congenital diaphragmatic hernia, Recurrent respiratory infections, Pulmonary artery hypoplasia, A... OMIM:616777
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Encephalocele, Meningocele, Choroid plexus cyst, Aplasia/Hypoplasia of the t... ORPHA:1827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Joubert Syndrome 9
Ventriculomegaly, Encephalocele OMIM:612285
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Abnormality of the dentition, Coronal craniosynostosis, Hypoplasia of the maxilla, C... ORPHA:2095
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Glossoptosis, Pierre-Robin sequence, Cleft palate, Joint hypermobility, Advanced os... OMIM:620269
Neuralgic Amyotrophy
Narrow mouth, Scapular winging, Bifid uvula, Cleft palate, Upper limb amyotrophy, Syndactyly ORPHA:2901
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Cleft... ORPHA:306542
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed puberty, Delayed eruption of teeth ORPHA:1816
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Sensorineural hearing impairment, High palate, Campto... OMIM:616354
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Hydrocephalus, Recurrent fractures, Ma... OMIM:259710
Osteoglosphonic Dysplasia
Abnormal bone ossification, Tooth agenesis, Multiple unerupted teeth, Micrognathia, Protruding ea... ORPHA:2645
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Accessory oral frenulum, Short philtrum, Single tr... OMIM:617927
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Umbilical hernia, Long philtrum, Joint hypermobilit... OMIM:261540
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormality of the ear, High, narrow palate, Aniridia, Anophthalmia, Mandibular prognathia, Hypop... ORPHA:1101
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Pulmonic stenosis, Peripheral arterial stenosis OMIM:185500
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly OMIM:615984
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Microphthalmia, Rhizomelia, Proxima... ORPHA:93267
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Maternal diabetes, Delayed ossification of carpal bones, Laryngo... ORPHA:93346
Temple-Baraitser Syndrome
Everted upper lip vermilion, Delayed eruption of teeth, Delayed phalangeal epiphyseal ossificatio... ORPHA:420561
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate, Joint hypermobility, Cryptorc... OMIM:610125
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Foot joint contracture, Anophthalmia, Mandibular prognathia, Abn... ORPHA:90321
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Hydrocephalus, Syndactyly, Smooth philtrum, Ventricular septal defect OMIM:602501
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... ORPHA:88630
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Agenesis of corpus callosum, Microglossia OMIM:616540
Charge Syndrome
Microphthalmia, Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Abnormal palmar derma... OMIM:214800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact... OMIM:236500
Joubert Syndrome 22
Microphthalmia, Molar tooth sign on MRI, 2-3 toe syndactyly, Postaxial hand polydactyly, Postaxia... OMIM:615665
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Widely spaced teeth, Selective tooth agenesis, Split hand, Microdontia, Ca... OMIM:225280
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Umbilical hernia, Ventricul... ORPHA:2143
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Holoprosencephaly
Microphthalmia, Solitary median maxillary central incisor, Abnormal pinna morphology, Tooth agene... ORPHA:2162
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Tooth malposition, Anophthalmia, Failure of eruption of permanent teeth, Bifid uv... ORPHA:2250
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly, Molar tooth sign on MRI OMIM:614464
Aredyld Syndrome
Advanced eruption of teeth, Low-set, posteriorly rotated ears, Craniofacial hyperostosis, Abnorma... ORPHA:1133
4H Leukodystrophy
Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph... ORPHA:289494
Branchioskeletogenital Syndrome
Thin vermilion border, Mixed hearing impairment, Attached earlobe, Short philtrum, Rootless teeth... ORPHA:1299
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Al-Gazali-Bakalinova Syndrome
Polydactyly, Molar tooth sign on MRI, Genu valgum, Lymphedema, Epiphyseal dysplasia, Clinodactyly... OMIM:607131
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Decreased response to growth hormone st... ORPHA:2980
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Low-set ears,... OMIM:617412
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, 11 pairs of ribs, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal ... OMIM:300863
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Isolated Cleft Lip
Chronic otitis media, Supernumerary maxillary incisor, Abnormal Eustachian tube morphology, Non-m... ORPHA:199302
Laron Syndrome
Delayed puberty, Delayed eruption of teeth, Abnormality of the endocrine system, Microdontia, Too... ORPHA:633
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Bartsocas-Papas Syndrome 1
Microphthalmia, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,... OMIM:263650
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Geroderma Osteodysplasticum
Osteopenia, Periodontitis, Hyperextensibility of the finger joints, Mandibular prognathia, Abnorm... OMIM:231070
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Delayed eruption of teeth, Hypodontia, High palate, Camptodactyly of finger, Bifid uv... OMIM:612350
3Mc Syndrome 3
Tessier cleft, Preaxial polydactyly, Cleft upper lip, Cleft palate, Radioulnar synostosis, Clinod... OMIM:248340
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Cardiomyopathy, D... ORPHA:370959
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Postaxial hand polydactyly, Clef... ORPHA:2075
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Optic nerve hypoplasia, Pectus excavatum, Abnormal heart morphology, Cervical... ORPHA:508488
Charlie M Syndrome
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... ORPHA:1406
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Truncus arteriosus, Pulmonary artery atresia, Pulmonic ... ORPHA:3426
Angelman Syndrome
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mo... OMIM:105830
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Accessory oral frenulum, Low-set, posteriorly rotated ears, Umbilical hernia ORPHA:1373
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ven... OMIM:601927
Raine Syndrome
Mixed hearing impairment, Subperiosteal bone formation, Abnormal pinna morphology, Microdontia, D... OMIM:259775
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Supernumerary tooth, Delayed puberty, Agenesis of molar, Bicoronal synostosis, Microd... OMIM:619718
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Delayed puberty, Anal fissure, Foot joint contracture, Narrow mouth, Osteoporosis, An... ORPHA:79408
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Midgut mal... ORPHA:2326
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Recurrent otitis media, High palate, Glossoptosis, Camptodactyly, Low-set ears, Hearing impairmen... OMIM:613604
3P25.3 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Microphthalmia, Proximal placement of thumb, Knee flex... ORPHA:435638
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Supernumerary Nostril
Tessier cleft ORPHA:141096
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Hydrocephalus, Femoral... ORPHA:1860
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia, Low-set ears, Cupped ear OMIM:167730
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ... OMIM:200990
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Low-set ears, Hypoplasia of the maxilla, Wide m... ORPHA:251061
Meier-Gorlin Syndrome 4
Breast hypoplasia, Thick lower lip vermilion, Microtia, Narrow mouth, Low-set ears, Hypoplasia of... OMIM:613804
Parietal Foramina 1
Encephalocele OMIM:168500
Odontochondrodysplasia
Retrognathia, Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Joint hyper... ORPHA:166272
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Brachydactyly, Abnormal epiphysis morphology, Ventriculomegaly, Recurren... ORPHA:2643
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Mi... OMIM:617925
Nance-Horan Syndrome
Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Macrotia, Mulberry ... OMIM:302350
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Encephalocele, Talipes equinovarus, Midline facial cleft, Optic nerve hypopl... OMIM:603671
Lethal Congenital Contracture Syndrome 1
Edema, Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Abnormal palate morphology, Supernumerary tooth, Protruding ear, Low-set, posterio... ORPHA:502
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Masa Syndrome
Hand clenching, Camptodactyly of finger, Ventriculomegaly, Clinodactyly of the 5th finger ORPHA:2466
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Fixed elbow flexion, Delayed epiphyseal ossification, Micrognathia, Knee flexi... ORPHA:166016
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Umbilical hernia, Aplasia/Hy... OMIM:107480
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality ... ORPHA:264200
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Inguinal hernia, Finger syndactyly, Camptodactyly of finger, Cle... ORPHA:2311
Meckel Syndrome, Type 1
Occipital encephalocele, Microphthalmia, Radial deviation of finger, Anencephaly, Syndactyly, Ven... OMIM:249000
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Coloboma, Cleft palate, Short toe, Chorioretinal coloboma, Brachydact... ORPHA:921
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Tracheoesophageal fistula, Pyloric stenosis, Splenomegaly, Recurrent... ORPHA:379
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Dandy-Walker malformation, Low-set ears, Death in infancy, Micrognathia, Nata... OMIM:616901
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Retrognathia, Death in childhood, Hydrocephalus, Sensorineural hearing imp... OMIM:612938
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of the phalanges of... OMIM:615630
Triploidy
Polyhydramnios, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Abnormal cardiac ... ORPHA:3376
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout... OMIM:614753
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Partial dupli... OMIM:617926
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Syndactyly, Absent p... ORPHA:2839
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Recurrent otitis media, Low-set ears, Ankyloglossia, Osteoporosis, Bile duct... OMIM:619525
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Steatocystoma Multiplex
Natal tooth OMIM:184500
Phocomelia, Schinzel Type
Hypoplasia of the radius, High, narrow palate, Fibular aplasia, Abnormal tibia morphology, Aplasi... ORPHA:2879
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Omphalocele, Pulmonary hypoplasia, Broad palm, Atrial septal defect, Ventri... OMIM:145420
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly ORPHA:64754
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Atelosteogenesis Type I
Abnormal fibula morphology, Abnormal pancreatic duct morphology, Laryngotracheal stenosis, Rhizom... ORPHA:1190
Meier-Gorlin Syndrome 1
Breast hypoplasia, Incomplete partition of the cochlea type II, Absent sternal ossification, Low-... OMIM:224690
Orofaciodigital Syndrome Xv
Low-set ears, Midline notch of upper alveolar ridge, Lobulated tongue, Agenesis of corpus callosu... OMIM:617127
Atkin-Flaitz Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,... ORPHA:1193
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Unicoronal synostosis, Bicoronal synostosis, Craniosynost... OMIM:604757
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... OMIM:618729
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, High, narrow palate, Protruding ear, Short uvula, Short philtrum, Hydrocephalus,... OMIM:619475
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Conical tooth, Selective tooth agenesis, Hypoplasia of the maxilla, Cleft up... OMIM:106260
Distal Triplication 15Q
Hypoplastic aortic arch, High palate, Camptodactyly, Arachnodactyly, Abnormal heart morphology, P... ORPHA:314588
Fraser Syndrome 1
Tessier cleft, Bilateral microphthalmos, Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocep... OMIM:219000
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum OMIM:618825
Orofaciodigital Syndrome Iii
Supernumerary tooth, Low-set ears, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue OMIM:258850
Holoprosencephaly 7
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Unilateral cle... OMIM:610828
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:1112
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Oligodontia, Low-set ears, Microg... ORPHA:1787
Pycnodysostosis
Narrow palate, Increased bone mineral density, Absent frontal sinuses, Osteolytic defects of the ... OMIM:265800
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Narrow chest, Flared metaphysis, Metaphyseal cupping, Broad clavicles, Short thorax, ... ORPHA:50945
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... OMIM:617866
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Bilateral single transverse palmar creases, Pectus carinatum, Arachnodactyly, Recurrent respirato... ORPHA:1548
Aminopterin Syndrome Sine Aminopterin
Oligodontia, High palate, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Cleft palat... OMIM:600325
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Syndromic 2
Microphthalmia, Sandal gap, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve p... OMIM:300166
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele ORPHA:398156
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Tetr... ORPHA:261243
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Low-set, posteriorly rotated ears, Short philtrum, Spina bifida occul... ORPHA:949
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Low-set ears, Dilated fourth ventricle, Downturned corners of mouth, Lobulated to... OMIM:613443
Osteoglophonic Dysplasia
Osteopenia, Delayed eruption of teeth, Eruption failure, Mandibular prognathia, High palate, Low-... OMIM:166250
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Mandibular prognathia, Abnormality of the dentition, Protrud... ORPHA:627
Van Den Ende-Gupta Syndrome
High, narrow palate, Camptodactyly of 2nd-5th fingers, Dental crowding, Small earlobe, Elbow flex... OMIM:600920
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Micrognathia, Smooth philtrum OMIM:614526
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Camptodactyly of finger, Abnormal mandible morphology, Hypodon... ORPHA:3201
Renal Agenesis, Bilateral
Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate, Pulmonary hy... ORPHA:1848
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Limb undergrowth, Splenomegaly, Aplasia/Hypoplasia of the lungs, Abnormal limb bone... ORPHA:2204
Joubert Syndrome
Situs inversus totalis, Encephalocele, Hydrocephalus, Foot polydactyly, Hand polydactyly ORPHA:475
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Synostosis of carpal bones, Conductive hearing impairment... ORPHA:3238
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal... ORPHA:261197
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Tracheomalacia OMIM:245650
Orofaciodigital Syndrome Iv
Tongue nodules, High palate, Low-set ears, Micrognathia, Cleft palate, Lobulated tongue, Accessor... OMIM:258860
Mmep Syndrome
Split foot, Microphthalmia, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th... OMIM:142900
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Radial deviation of finger, Absent thumb, Absent radius, Overlap... OMIM:154400
Pagod Syndrome
Abnormal clavicle morphology, Situs inversus totalis, Encephalocele, Meningocele, Abnormal aortic... ORPHA:991
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Flexion contracture, Left ventricular hypertrophy OMIM:616733
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia, Submucous cleft hard palate,... ORPHA:250999
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Postaxial ha... OMIM:200995
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Coloboma, Anal atresia, Aortic valve stenosis, Pulmonic stenosis, Cleft palate, Te... OMIM:220210
Filippi Syndrome
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology... OMIM:272440
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Coronary artery fistula, Patent ... OMIM:619343
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Low-set ears, Hypoplasia of the maxilla, Abnormality of... ORPHA:2399
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Low-set, posteriorly rot... ORPHA:564
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Hydrocephalus, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... ORPHA:536471
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Inguinal hernia, Coronary artery fistula, Long fin... OMIM:614294
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Transposition of the great arteries, Triphalangea... OMIM:192350
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Knee flexion contracture ORPHA:496689
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187601
8P23.1 Duplication Syndrome
Pulmonic stenosis, Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Robinow Syndrome, Autosomal Recessive 2
Triangular mouth, Cleft soft palate, Gingival overgrowth, Low-set ears, Abnormality of the dentit... OMIM:618529
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Inguinal hernia, Gastroesophageal reflux,... ORPHA:2306
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Wrist ... OMIM:305620
Bardet-Biedl Syndrome 4
Polydactyly, Brachydactyly, Abnormality of the dentition, Syndactyly OMIM:615982
Sulfite Oxidase Deficiency, Isolated
Death in infancy, Macrotia, Delayed eruption of teeth OMIM:272300
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Broad alveolar ridges, Mandibular prognathia, Facial hyperostosis, Dela... OMIM:218400
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:94089
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Microdontia, Precocious puberty, Micrognathia, Open mouth, Delayed eruption of perm... OMIM:619356
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Microdontia of primary teeth, Decreased response to growth hormone stimulation test, Recurrent ot... OMIM:213980
Momo Syndrome
Abnormal bone ossification, Thick lower lip vermilion, Bilateral microphthalmos, Delayed eruption... ORPHA:2563
Char Syndrome
Short philtrum, Triangular mouth, Symphalangism of the 5th finger, Everted lower lip vermilion, P... ORPHA:46627
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Proximal placement of thumb, Mes... ORPHA:818
Charge Syndrome
Microphthalmia, Tracheoesophageal fistula, Dysphagia, Umbilical hernia, Bifid femur, Abnormal car... ORPHA:138
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Scarring, Pulmonary artery aneurysm, Emphysema, Arterial tortuos... OMIM:614437
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Adducted thumb, Ventriculomegaly ORPHA:3207
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Cleft palate, Split hand OMIM:183700
Stickler Syndrome
Chronic otitis media, Reduced bone mineral density, Sensorineural hearing impairment, Glossoptosi... ORPHA:828
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Calvarial hyperostosis OMIM:112350
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Increased bone mineral density, Abnormal de... ORPHA:1782
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Hand polydactyly, Encephalocele, Foot polydactyly ORPHA:2318
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis... ORPHA:536467
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Atrial septal defect, Intestinal atresia, Talipes equi... ORPHA:2970
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Ver... ORPHA:313892
Multiple Pterygium Syndrome, X-Linked
Short finger, Hypoplastic heart, Amyoplasia, Cleft palate, Pulmonary hypoplasia, Flexion contracture OMIM:312150
Joubert Syndrome With Ocular Defect
Dextrocardia, Encephalocele, Hydrocephalus, Foot polydactyly, Hand polydactyly ORPHA:220493
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Submucous clef... OMIM:619227
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Gastroesophageal reflux, High palate, Congen... ORPHA:363528
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Single ventricle, 2-5 finger syndactyly, Epiphys... OMIM:308050
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Short thorax, Abnormal rib morphology, Micromelia, Umbilical h... ORPHA:93298
Weill-Marchesani Syndrome 1
Narrow palate, Tooth malposition, Microspherophakia, Joint stiffness, Abnormal dental morphology,... OMIM:277600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Phosphoribosylaminoimidazole Carboxylase Deficiency
Talipes equinovarus, Clinodactyly of the 5th finger, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pancreatiti... ORPHA:537
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Enlarged thorax, Camptodactyly of finger, Holoprosencephaly, Abnormal pleura mor... ORPHA:2570
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Mulibrey Nanism
Hypodontia, Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Enamel hypoplas... OMIM:253250
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Incisor macrodontia, Achilles tendon contracture, Dental malocclusion, T... OMIM:619719
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Joubert Syndrome 2
Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Enlarged fossa interped... OMIM:608091
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate, Bilateral conductiv... OMIM:216300
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Arachnodactyly, Synd... OMIM:265000
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Optic nerve hypoplasia, ... OMIM:614643
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Coxa vara, Anterior rib cupping, Recurren... OMIM:602271
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Arachnodactyl... OMIM:610168
Achondrogenesis Type 1A
Narrow chest, Short thorax, Short foot, Micromelia, Short palm, Umbilical hernia, Multiple rib fr... ORPHA:93299
Hypomandibular Faciocranial Dysostosis
Maxillozygomatic hypoplasia, Narrow mouth, Low-set ears, Death in infancy, Bifid uvula, Cleft pal... ORPHA:1790
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele, Ventriculomegaly, Pulmonary artery stenosis, Aortic valve stenosis... OMIM:100300
Microphthalmia, Syndromic 6
Retrognathia, Microphthalmia, Female hypogonadism, Bifid uvula, Ventriculomegaly, Hearing impairm... OMIM:607932
Holoprosencephaly 1
Tessier cleft, Cyclopia, Microphthalmia, Alobar holoprosencephaly, Median cleft palate, Ethmoceph... OMIM:236100
Joubert Syndrome 21
Occipital encephalocele, Bell-shaped thorax, Encephalocele, Anophthalmia, Short ribs, Pulmonary h... OMIM:615636
Meckel Syndrome 13
Occipital encephalocele OMIM:617562
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Bilateral single transverse palmar creases, Atrial septal defect, Partial anomalous pulmonary ven... OMIM:619657
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Ventriculomegaly, Flexion contracture of toe OMIM:619323
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Hearing abnormality, Narrow mouth, Malar flattening, Joint hypermobil... ORPHA:2412
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, High palate, Macrotia, Micrognathia, Diabetes mellitus, Hyperplasia of the maxilla OMIM:620194
Coach Syndrome 1
Occipital encephalocele, Vascular dilatation, Encephalocele, Postaxial hand polydactyly OMIM:216360
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Low-set ears, Micrognathia, Microglossia, Hypodontia OMIM:612776
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Adducted th... OMIM:601559
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Bilateral sensorineural hearing impairment, Talon cusp, Microdontia, Cleft pal... OMIM:605282
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Short sternum, Hypoplasia o... OMIM:222448
Acalvaria
Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Microphthalmia, Transposition of the great arteries, Encephalocele, Hydroce... OMIM:253800
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Cleft soft palate, Short philtrum, Underdeveloped antitragus, Posteriorly rotated e... ORPHA:293725
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth, Joint hypermobility, Increased su... OMIM:619752
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Tracheal bronchus, Intrahepatic bile duct dilatation, Cholestasi... OMIM:619534
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Clinodactyly ORPHA:500166
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Chronic otitis media, Lambdoidal craniosynostosis, Delayed er... OMIM:614188
Down Syndrome
Sandal gap, Hypoplastic iliac wing, Broad palm, Clinodactyly, Aganglionic megacolon, Patent foram... OMIM:190685
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Small placenta, Delayed eruption of teeth, Sensorine... ORPHA:73272
49,Xxxxy Syndrome
Chronic otitis media, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular pr... ORPHA:96264
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla OMIM:183400
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Gastroesophageal reflux, Sandal gap, Short 2nd finger, ... OMIM:600987
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup... OMIM:614524
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of... ORPHA:628
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Tricuspid atresia, Microphthalmia, Biliary atresia, Meckel diverti... OMIM:115470
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Clinodactyly of the 5th finger, Abnormal heart valve morphology, High palate, Pulmonic stenosis, ... ORPHA:2868
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Microphthalmia, Single transverse palmar crease, Histiocytoid ca... OMIM:309801
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Orofaciodigital Syndrome Type 4
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Abnormality of the ear, Short philt... ORPHA:2753
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Chronic otitis media, Delayed eruption of teeth, Abnormality of the dentition, Gingiv... ORPHA:2314
Tetrasomy 5P
Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, Pectus excavatum, Long fingers, Pulm... ORPHA:3309
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Glossoptosis, Postaxial p... ORPHA:2886
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Arthrogryposis multiplex congenita, Camptodactyly of finger, Generalized a... ORPHA:994
Faciocardiomelic Dysplasia, Lethal
Retrognathia, Narrow mouth, Micrognathia, Neonatal death, Microglossia OMIM:227270
Dermatitis Herpetiformis
Delayed eruption of teeth, Abnormality of the thyroid gland, Dental enamel pits, Erosion of oral ... ORPHA:1656
Mucopolysaccharidosis, Type Ix
Recurrent otitis media, Hyperextensibility at elbow, Synovitis, Bifid uvula, Wrist hypermobility,... OMIM:601492
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal lung lobation, Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly,... ORPHA:2166
Hypohidrotic Ectodermal Dysplasia
Breast aplasia, Abnormality of the dentition, Tooth agenesis, Abnormal dental morphology, Sinusit... ORPHA:238468
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Anal stenosis, Abnormal ilium morphology, Gastroesophageal reflu... OMIM:614080
Zttk Syndrome
Dysplastic corpus callosum, Thin vermilion border, Protruding ear, Intestinal atresia, Short phil... OMIM:617140
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Bilat... OMIM:618022
Dyskeratosis Congenita
Neoplasm of the pancreas, Periodontitis, Abnormality of the dentition, Tracheoesophageal fistula,... ORPHA:1775
Gorham-Stout Disease
Osteopenia, Mandibular pain, Abnormal bone ossification, Abnormal ethmoid bone morphology, Abnorm... ORPHA:73
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Natal tooth, Thick vermilion border, Mandibular prognathia OMIM:601957
Ellis-Van Creveld Syndrome
Genu valgum, Narrow chest, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic iliac wing... OMIM:225500
Pai Syndrome
Encephalocele, Abnormal oral frenulum morphology, Cleft palate, Bifid uvula, Median cleft upper lip ORPHA:1993
Temple-Baraitser Syndrome
Pseudoepiphysis of the thumb, Proximal placement of thumb, Gastroesophageal reflux, Broad thumb, ... OMIM:611816
Arthrogryposis, Distal, Type 5D
Hypermobility of distal interphalangeal joints, Limited elbow movement, Elbow flexion contracture... OMIM:615065
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Enamel hypoplasia, Hypodontia, Esoph... OMIM:616029
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Prominent fingertip pads, High palate, Camptodactyly, Pulmonary a... OMIM:300963
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Femoral-Facial Syndrome
Abnormal fibula morphology, Ventriculomegaly, Abnormal pelvic girdle bone morphology, Abnormal ri... ORPHA:1988
Multiple Pterygium Syndrome, Lethal Type
Short finger, Hypoplastic heart, Amyoplasia, Cleft palate, Pulmonary hypoplasia, Flexion contracture OMIM:253290
Recombinant 8 Syndrome
Chronic otitis media, Gingival overgrowth, Abnormality of the outer ear, Low-set ears, Abnormalit... ORPHA:96167
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Preaxial polydactyly, High palate, Bilateral talipes equinovarus, Postaxial... OMIM:618142
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Intestinal malrotation, Split foot,... OMIM:305600
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Optic nerve hypoplasia, Tracheoesophageal fistula, Septo-optic dysplasia, Cle... ORPHA:3157
Hypomelanosis Of Ito
Radial deviation of finger, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly... OMIM:300337
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm,... OMIM:132900
Joubert Syndrome 10
Molar tooth sign on MRI, Polyhydramnios, Postaxial hand polydactyly, Brachydactyly, Postaxial foo... OMIM:300804
Hartnup Disorder
Glossitis OMIM:234500
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, A... ORPHA:1458
Masa Syndrome
Hydrocephalus, Adducted thumb, Ventriculomegaly, Talipes equinovarus OMIM:303350
Kleefstra Syndrome 1
Tracheobronchomalacia, Mandibular prognathia, Abnormal pinna morphology, Everted lower lip vermil... OMIM:610253
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Delayed eruption of teeth, Absent frontal sinuses, Premature lo... OMIM:224300
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, High, narrow palate, Sandal gap, Dysplastic pulmonary valve, Prominent fing... OMIM:612863
Intellectual Developmental Disorder, X-Linked 112
Madelung deformity, Gastroesophageal reflux, Right aortic arch, Volvulus, Abnormal heart morpholo... OMIM:301111
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th... OMIM:169400
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring, Cleft palate, Brachydactyly, Clinodactyly OMIM:616954
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Hip dysplasia, Recurrent respiratory infections, ... ORPHA:412035
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Atrial septal defect, Proximal placement of thumb, Inguinal hernia, Dysplasti... OMIM:601808
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis, Oligodontia, Natal tooth, Hypoplastic sweat glands, Hypodontia OMIM:601345
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Joubert Syndrome 20
Postaxial polydactyly, Molar tooth sign on MRI, 4-5 toe syndactyly OMIM:614970
Weill-Marchesani Syndrome 2
Narrow palate, Flexion contracture of toe, Tooth malposition, Microspherophakia, Elbow flexion co... OMIM:608328
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Sandal gap, Ventriculomegaly, Dilated cardiomyopathy, Ventricular... ORPHA:2515
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios, Atrial septal defect, Ventricular septal defect, Abnormal morphol... ORPHA:3469
Apert Syndrome
Chronic otitis media, Limited elbow movement, Bifid uvula, Craniosynostosis, Ventriculomegaly, Na... OMIM:101200
Trisomy 18
Congenital diaphragmatic hernia, Narrow palate, Bilateral single transverse palmar creases, Micro... ORPHA:3380
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Nephronophthisis 16
Situs inversus totalis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Pulmonic s... OMIM:615382
Mandibuloacral Dysplasia
Hyperinsulinemia, Abnormal tongue morphology, Abnormally large globe, Dental crowding, Osteolytic... ORPHA:2457
Fryns Syndrome
Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Meckel diverticulum, Prominent f... OMIM:229850
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
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Ectopic anus... ORPHA:2549
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Narrow palate, Hypoplasia of the radius, Hypoplasia of the ulna,... OMIM:200980
Meier-Gorlin Syndrome 3
Breast hypoplasia, Tracheomalacia, Absent sternal ossification, Microtia, Narrow mouth, Low-set e... OMIM:613803
Vitamin D-Dependent Rickets, Type 2A
Rickets, Elevated circulating parathyroid hormone level, Delayed epiphyseal ossification, Delayed... OMIM:277440
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus OMIM:619501
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, Hyperinsulinemia, Mandibular prognathia, High palate, Precocious pube... OMIM:262190
Slc35A2-Cdg
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Atr... ORPHA:356961
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Inguinal hernia, Aortic aneurysm, Abnormal gastrointestinal tra... ORPHA:2990
Neu-Laxova Syndrome 1
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Ventriculomegaly, Clinodactyly, T... OMIM:256520
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Narrow palate, Protruding ear, Ivory epiphyses of the distal phalanges of the hand, D... OMIM:190350
Joubert Syndrome With Renal Defect
Hydrocephalus, Hand polydactyly, Encephalocele ORPHA:220497
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Hepatomegaly, Jaundice, Aplasia/Hypoplasia of the... ORPHA:290
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Microtia, Low-set ears, Coronal craniosynostosis, Hyp... OMIM:101400
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma, Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger,... OMIM:216800
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epiphysea... ORPHA:79345
Vertebral Hypersegmentation And Orofacial Anomalies
Darwin tubercle of helix, Unilateral cleft palate, Micrognathia, Unilateral cleft lip, Joint hype... OMIM:619122
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Supernumerary tooth, Protruding ear, Dental crowding, Smooth philtrum, Long philtrum,... OMIM:190351
Bardet-Biedl Syndrome 16
Polydactyly, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Ventriculomegaly, Low-set ears, Intestinal malrotation, Lobar holoprosence... OMIM:614701
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Abnormal long bone morphology, Cardiomyopathy, Amyotrophic late... ORPHA:52430
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the ... ORPHA:163966
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Absence of Ste... OMIM:129900
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Communicating hydrocephalus, Microg... ORPHA:2050
Poland Syndrome
Hypoplasia of deltoid muscle, Dextrocardia, Short ribs, Unilateral oligodactyly, Sprengel anomaly... OMIM:173800
48,Xxxy Syndrome
Chronic otitis media, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular pr... ORPHA:96263
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Protruding ear, Long upper lip, High palate, Abnormality of the dentition, C... ORPHA:77258
8P Inverted Duplication/Deletion Syndrome
Retrognathia, High, narrow palate, Dandy-Walker malformation, Everted lower lip vermilion, Crypto... ORPHA:96092
Alg9-Cdg
Narrow greater sciatic notch, Short long bone, Bifid uvula, Abnormal heart morphology, Right vent... ORPHA:79328
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Meier-Gorlin Syndrome 7
Meconium peritonitis, Anal stenosis, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2... OMIM:617063
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Marshall-Smith Syndrome
Retrognathia, Reduced bone mineral density, Gingival overgrowth, Protruding tongue, Conductive he... ORPHA:561
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Enlargement of the costochondral junction, Short metatarsal... OMIM:271650
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Narrow palate, Thin vermilion border, Supernume... OMIM:234100
Desmosterolosis
Retrognathia, Osteopetrosis, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Incr... ORPHA:35107
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Erupti... OMIM:600002
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Cleft palate, Microphthalmia ORPHA:1915
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, In... OMIM:618454
Joubert Syndrome 32
Molar tooth sign on MRI, Postaxial hand polydactyly, Postaxial foot polydactyly, Hypertrophic car... OMIM:617757
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic arch morphology,... ORPHA:96334
Genitopatellar Syndrome
Gastroesophageal reflux, Hypoplastic ilia, Hypoplastic ischia, Short palm, Hip contracture, Radio... ORPHA:85201
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... ORPHA:2107
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... OMIM:603543
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short greater sciatic notch, Mecke... OMIM:312870
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis OMIM:618356
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormality of the endocrine system, Ovarian cyst, Pathologic frac... ORPHA:249
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Bloom Syndrome
Cryptorchidism, Malar flattening, Type II diabetes mellitus, Protruding ear, Agenesis of maxillar... OMIM:210900
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Short philtrum, Delayed e... OMIM:615866
White-Sutton Syndrome
Congenital diaphragmatic hernia, Gastroesophageal reflux, Facial hypotonia, Optic nerve hypoplasi... OMIM:616364
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Abnormality of the dentition ORPHA:1264
Arthrogryposis, Distal, Type 3
High palate, Decreased hip abduction, Cryptorchidism, Camptodactyly of toe, Camptodactyly of fing... OMIM:114300
Grange Syndrome
Aortic regurgitation, Hypertension, Short palm, Syndactyly, Patent ductus arteriosus, Ventricular... ORPHA:79094
22Q11.2 Deletion Syndrome
Microphthalmia, Abnormal aortic arch morphology, Arachnodactyly, Umbilical hernia, Abnormal thora... ORPHA:567
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Microphthalmia, Tracheoma... ORPHA:2108
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma OMIM:120433
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Gingival overgrowth, Low-set ears, Coronal craniosynostosis, Decreased calvarial ossi... ORPHA:313855
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Macrotia, Uplifted earlobe... ORPHA:364028
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia, Coloboma, 2-3 toe syndactyly, Long philtrum, 3-4 finger... OMIM:615877
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Williams Syndrome
Abnormal carotid artery morphology, Tracheoesophageal fistula, Pulmonic stenosis, Mitral valve pr... ORPHA:904
Sirenomelia
Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia ORPHA:3169
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Delayed eruption of teeth, Subcutaneous ossificat... OMIM:103580
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Narrow mouth, Mandibular aplasia, Holoprosencephaly, ... ORPHA:990
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal rib morphology ORPHA:2790
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Anal stenosis, Aniridia, Short philtrum, O... OMIM:180500
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Elev... ORPHA:3044
Smith-Magenis Syndrome
Delayed puberty, Chronic otitis media, Short philtrum, Mandibular prognathia, Joint stiffness, Cl... ORPHA:819
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Narrow palate, Hydrocephalus, Gingival overgrowth, High palate, Narrow m... OMIM:123790
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Omphalocele, Cleft palate ORPHA:95706
Myhre Syndrome
Microphthalmia, Short philtrum, Mandibular prognathia, Microtia, Limitation of joint mobility, Na... OMIM:139210
Anti-Glomerular Basement Membrane Disease
Arthritis, Persistence of primary teeth ORPHA:375
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Encephalocele ORPHA:228390
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho... OMIM:250420
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Hypoplasia of the iris OMIM:614195
Joubert Syndrome 39
Joint contracture of the 5th finger, Occipital encephalocele, Postaxial polydactyly, Hypoplastic ... OMIM:619562
Oligomeganephronia
Congenital diaphragmatic hernia, Secundum atrial septal defect, Pulmonary venous occlusion, Pulmo... ORPHA:2260
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Microphthalmia, Short philtrum, High palate, Furrowed tongue, Everted lower lip ver... OMIM:616449
Sotos Syndrome
Narrow palate, Advanced eruption of teeth, High, narrow palate, Mandibular prognathia, High palat... OMIM:117550
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Stenosis of the external auditory canal, Microtia, Glossoptosis, High palate, Camptod... OMIM:611209
Teeth Present At Birth
Natal tooth OMIM:187050
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Meckel diverticulum, Low-set ears, Bilateral cryptorchidism, Eclabion, Carious te... OMIM:616395
Marbach-Rustad Progeroid Syndrome
Femur fracture, Reduced bone mineral density, Eruption failure, Narrow mouth, Micrognathia, Smoot... OMIM:619322
Monosomy 9Q22.3
Long philtrum, Orofacial cleft, Microphthalmia, Delayed eruption of teeth, Odontogenic keratocyst... ORPHA:77301
Familial Scaphocephaly Syndrome, Mcgillivray Type
Broad hallux phalanx, Ventriculomegaly, Toe syndactyly ORPHA:168624
Feingold Syndrome Type 1
Gastrointestinal atresia, Tricuspid atresia, Clinodactyly of the 5th finger, Esophageal atresia, ... ORPHA:391641
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Absence of se... ORPHA:95494
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, High, narrow palate, Hepatomegaly, Cubitus valgus, Epiphyseal stippling, Intr... OMIM:214100
Neu-Laxova Syndrome
Rickets, Osteopenia, Retrognathia, Ventriculomegaly, Dandy-Walker malformation, Abnormality of th... ORPHA:2671
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Developmental And Epileptic Encephalopathy 80
Abnormal pinna morphology, High palate, Low-set ears, Protruding tongue, Death in infancy, Hearin... OMIM:618580
Congenital Myopathy 17
Overlapping fingers, High palate, Tapered finger, Clinodactyly, Cleft palate, Pulmonary hypoplasi... OMIM:618975
Mosaic Trisomy 14
Bilateral single transverse palmar creases, Narrow chest, Abnormal rib morphology, Aplasia/Hypopl... ORPHA:1703
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Hypothalamic hamartoma, Tongue nodules, High palate, Bilateral... ORPHA:2754
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Sensorineural hearing impairment, Microtia, Underdevelop... OMIM:164210
Diaphanospondylodysostosis
Absent in utero rib ossification, Hammertoe, Bell-shaped thorax, Missing ribs, Pulmonary hypoplas... OMIM:608022
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla, Deep philtrum OMIM:137550
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abn... ORPHA:231169
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, High palate, Abnormal epiphysis morpho... ORPHA:3098
Orofaciodigital Syndrome Type 1
Chronic otitis media, Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulu... ORPHA:2750
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Underfolded helix, Smooth phil... OMIM:157980
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Ascites, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Pulmonic s... ORPHA:3304
Iniencephaly
Rocker bottom foot, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformat... ORPHA:63259
Uruguay Faciocardiomusculoskeletal Syndrome
Limited elbow movement, Retrognathia, Low-set ears, Everted lower lip vermilion, Camptodactyly, C... OMIM:300280
Frontonasal Dysplasia 2
Microphthalmia, Widely spaced teeth, Encephalocele, Conical tooth, Tessier number 13 facial cleft... OMIM:613451
Mucopolysaccharidosis, Type Ii
Thick lower lip vermilion, Widely spaced teeth, Recurrent otitis media, Intestinal pseudo-obstruc... OMIM:309900
Moebius Syndrome
Microphthalmia, Radial deviation of finger, High palate, Abnormality of the dentition, Camptodact... OMIM:157900
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Kleefstra Syndrome
Chronic otitis media, Advanced eruption of teeth, Tracheomalacia, Delayed eruption of teeth, Mand... ORPHA:261494
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Abnormal circulating calcium-phosphate regulating hormone conc... ORPHA:2238
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Microtia, Intestinal malrotation, Paranasal sinus hy... OMIM:300373
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... ORPHA:2484
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Sensorineural hearing impairment, Umbilical hernia, Narrow palate, Oligodontia, Cam... OMIM:235510
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Tetrasomy 15Q26
Hypoplastic aortic arch, High palate, Camptodactyly, Arachnodactyly, Patent ductus arteriosus, At... OMIM:614846
Hadziselimovic Syndrome
Ventricular hypertrophy, High palate, Pulmonary artery atresia, Anal atresia, Tetralogy of Fallot... OMIM:612946
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in... OMIM:620570
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Intestinal malrotation, Foot polydactyly, Broad thumb, Abnorma... ORPHA:1553
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Anal atresia, Cleft upper lip, Hypodontia, Cutaneous syndactyl... OMIM:119580
Suleiman-El-Hattab Syndrome
Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, Patent foramen ovale, Hi... OMIM:618950
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Malrotation... OMIM:122470
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Amelia involving the upper limbs, Aplasia/Hypoplasia of the l... ORPHA:1027
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Da... ORPHA:2319
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Craniolenticulosutural Dysplasia
Osteopenia, Long philtrum, Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of t... OMIM:607812
Adams-Oliver Syndrome 5
Inguinal hernia, Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein th... OMIM:616028
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Inguinal hernia, Gastr... OMIM:618651
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Fanconi Anemia, Complementation Group L
Microphthalmia, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Bilateral talipes eq... OMIM:614083
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic root aneurysm, Hyperextensibility of the finger joints, Pulmonic s... OMIM:609008
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Everted lower lip vermilion, Abnormal dental morphology, ... ORPHA:2251
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Enamel hypoplasia, Syndactyly, Cardiomegaly, Thin upper lip vermilion OMIM:613576
Igg4-Related Aortitis
Intestinal obstruction, Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubu... ORPHA:449400
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Microphthalmia, Annular pancreas, Delayed eruption of teeth, Mandibular prog... OMIM:268400
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho... OMIM:169550
Penile Agenesis
Rectal fistula, Bilateral lung agenesis, Anorectal anomaly, Tracheoesophageal fistula, Anal atres... ORPHA:49
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
2Q31.1 Microdeletion Syndrome
Microphthalmia, Sandal gap, Everted lower lip vermilion, Long philtrum, Abnormal fibula morpholog... ORPHA:251014
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Delayed eruption of teeth OMIM:617105
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin vermilion border, Short philtrum, Spina bifida occulta, Short lingual frenulum, Narrow mouth... OMIM:617360
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Brachydactyly, Aplasia/Hypopl... ORPHA:2145
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb, Finger syndacty... ORPHA:1825
Noonan Syndrome 12
11 pairs of ribs, Proximal placement of thumb, Pectus excavatum, Tetralogy of Fallot, Ventriculom... OMIM:618624
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Seckel Syndrome 2
Microphthalmia, Micrognathia, Microdontia, Microglossia OMIM:606744
Kleefstra Syndrome Due To A Point Mutation
Thick lower lip vermilion, Tracheomalacia, Abnormality of the dentition, Anal atresia, Precocious... ORPHA:261652
3C Syndrome
Abnormal hip bone morphology, Intestinal malrotation, Pulmonic stenosis, Aortic valve stenosis, A... ORPHA:7
Congenital Sialidosis Type 2
Polydactyly, Hydrocephalus, Gingival overgrowth, Ascites, Protruding tongue, Abnormal heart morph... ORPHA:93400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Absence of Ste... OMIM:604292
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia, Bone spicule pigmentation of the retina OMIM:611040
Three M Syndrome 2
Protruding ear, Delayed eruption of teeth, High palate, Thick vermilion border, Malar flattening,... OMIM:612921
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... OMIM:177170
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal hip bone morphology, Dislocated radial head, Pectus carinatum... ORPHA:666
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Irregular chondrocost... OMIM:187760
Ectodermal Dysplasia With Adrenal Cyst
Abnormality of the endocrine system, Breast hypoplasia, Hypoplastic nipples, Delayed eruption of ... OMIM:129550
Proboscis Lateralis
Orofacial cleft, Microphthalmia, Agenesis of canine, Abnormal ethmoid bone morphology, Abnormal f... ORPHA:141099
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Cebalid Syndrome
Congenital diaphragmatic hernia, High palate OMIM:618774
Keutel Syndrome
Pulmonary artery stenosis, Recurrent sinusitis, Tracheal atresia, Short distal phalanx of finger,... ORPHA:85202
Cree Mental Retardation Syndrome
Cleft soft palate, Low-set ears, Micrognathia, Posteriorly rotated ears, Cryptorchidism OMIM:606851
6P22 Microdeletion Syndrome
Abnormal palate morphology, Hydrocephalus, Finger syndactyly, Patent ductus arteriosus, Clinodactyly ORPHA:251046
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Abnormal mitochon... ORPHA:275872
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Abnormal cardiac septum morphology ORPHA:1681
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Calcaneal epiphyseal stippling, Short hard palate, Elbow flexio... OMIM:117650
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Split foot, Cleft upper lip, Cleft palate, Widely-spaced maxilla... OMIM:601349
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Cleft palate, Patent ductus arter... OMIM:613309
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve morphology, Venous insufficie... ORPHA:90308
Cat-Eye Syndrome
Microphthalmia, Abnormal rib morphology, Hip dysplasia ORPHA:195
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Microphthalmia, Talipes equinovarus OMIM:616171
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx, E... ORPHA:2211
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema, Narrow mouth, Camptodactyl... OMIM:616006
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Bilateral microphthalmos, Widely spaced teeth, Patent foramen ovale, Hig... ORPHA:369891
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Abnormal rib morphology, Spina bifida, Sprengel anomaly, Ventricula... ORPHA:2345
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Protruding ear, Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental en... ORPHA:1071
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Facial hypotonia... ORPHA:261311
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short philtrum, Sensorineural hearing impairment, Short lingual frenu... ORPHA:3241
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Single tra... OMIM:311900
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Cardiomyopathy, Broad thumb, Splenomegaly, Umbilical hernia, Ing... ORPHA:373
Pallister-Hall Syndrome
Microphthalmia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Rhizomelic Syndrome
Rhizomelia, Pulmonic stenosis, Bifid distal phalanx of the thumb, Complete duplication of thumb p... OMIM:268250
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Short philtrum, Oligodontia, Low-set ears, Everted lower lip vermilion, Hy... OMIM:609460
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... OMIM:301043
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma OMIM:615113
Stickler Syndrome, Type I
Arthritis, Sensorineural hearing impairment, Joint stiffness, Conductive hearing impairment, Micr... OMIM:108300
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Branchiootic Syndrome 1
Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,... OMIM:602588
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Prominent fingertip pads, Pectus excavatum, Broad thumb, Short distal phalanx of ... OMIM:612474
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Bilateral conductive hearing impairment, Low-set ears, Micrognathia, N... OMIM:617802
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Meckel diverticulum, Pancreatic hyp... ORPHA:1666
Kabuki Syndrome 2
Protruding ear, Recurrent otitis media, Hypodontia, High palate, Low-set ears, Hearing impairment... OMIM:300867
Viss Syndrome
Rocker bottom foot, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuo... OMIM:619472
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abdominal situs inversus, Atrial septal defect, Abnormality of t... ORPHA:280
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hypertension, Pulmonary ... OMIM:263200
Duane-Radial Ray Syndrome
Microphthalmia, Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absen... OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High palate, Upper limb asymmetry ORPHA:231140
Short Syndrome
Delayed eruption of teeth, Hypodontia, Sensorineural hearing impairment, Low-set ears, Rieger ano... OMIM:269880
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Ectrodactyly, Cleft palate, Syndacty... ORPHA:397590
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Tapered toe, Slender long bone, Shoulder flexion contracture, Hypoplasia of the mus... OMIM:620369
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Sensorineural hearing impairment, Oligodontia, Exaggerated cupid's bow, Long uppe... OMIM:608670
Microphthalmia, Syndromic 1
Microphthalmia, Dental crowding, Abnormal pinna morphology, Agenesis of maxillary lateral incisor... OMIM:309800
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Aplasia of the epiglottis, Low-set, posteriorly rotated ears, Dandy-Walker m... ORPHA:434179
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Gapo Syndrome
Long philtrum, Abnormal palate morphology, Delayed eruption of teeth, Mandibular prognathia, Low-... ORPHA:2067
Microphthalmia, Lenz Type
Orofacial cleft, Microphthalmia, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Ab... ORPHA:568
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Elevated circulating parathyroid hormone level, Delayed epiphyseal ossification, Delayed... OMIM:264700
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Broad alveolar ridges, Exaggerated cupid's bow, Narrow mouth, Cryptor... ORPHA:2215
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Trisomy 9P
Dental crowding, Non-midline cleft of the upper lip, Macrotia, Downturned corners of mouth, Protr... ORPHA:236
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, High palate, Everted lower lip vermilion, Low-set ears, Protruding tongue,... OMIM:617804
Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Glossoptosis, Limitation of joint mobility, Abnormally ossified... ORPHA:1427
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Patent ductus arteriosus, Ventricular hypertrophy, Cleft upper lip, Bifid uv... OMIM:612561
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, High, narrow palate, Microphthalmia, Short philtrum, Cholelithiasis, Mandibular pro... ORPHA:464738
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Arachnodactyly ORPHA:370079
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Interrupted inferior vena cava with azygous con... OMIM:618846
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Epiphyseal stippling, Optic nerve hypoplasia, High palate, Hip contracture, Micrognat... OMIM:222765
Orofaciodigital Syndrome Ix
High palate, Abnormality of the dentition, Camptodactyly, Cleft palate, Accessory oral frenulum, ... OMIM:258865
Mounier-Kühn Syndrome
Bronchitis, Tracheobronchmegaly, Recurrent bronchopulmonary infections, Pneumonia, Recurrent resp... ORPHA:3347
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Short metacarpal, Pulmonary hypoplasia, Short di... ORPHA:86822
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod... ORPHA:158687
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Decreased number of sweat glands, Yellow-brown discoloration of the teeth, P... ORPHA:69087
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Schneckenbecken Dysplasia
Metaphyseal irregularity, Lateral clavicle hook, Narrow chest, Snail-like ilia, Short ribs, Flat ... OMIM:269250
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,... OMIM:618870
Houge-Janssens Syndrome 2
Hydrocephalus, Pectus excavatum, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux... OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Hypoplasia of the brainstem, Microphthalmia, Cardiomyopathy OMIM:613155
Recon Progeroid Syndrome
Thin vermilion border, Dental crowding, Microtia, Attached earlobe, Smooth philtrum, Joint hyperm... OMIM:620370
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Anteverted ears, Micro... OMIM:610706
Lenz-Majewski Hyperostotic Dwarfism
Sensorineural hearing impairment, Joint hypermobility, Ventriculomegaly, Elbow flexion contractur... OMIM:151050
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed puberty, Delayed eruption of teeth, Oligodontia, Hypodontia, Hypogonadotropic hypogonadism ORPHA:447896
Acitretin/Etretinate Embryopathy
Microtia, High palate, Hypoplasia of the thymus, Median cleft palate, Bilateral sensorineural hea... ORPHA:40366
Microcephaly 30, Primary, Autosomal Recessive
Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Ventriculomegaly, Thin upper lip verm... OMIM:620183
Holoprosencephaly 2
Semilobar holoprosencephaly, Microphthalmia, Solitary median maxillary central incisor, Anterior ... OMIM:157170
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Gastroesophageal reflux, Tapered finger, 1-2 toe syndactyly, Cam... OMIM:301044
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Macrotia, Wide mouth, Thick vermilion border, Po... OMIM:618106
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Abnormal rib morphology, Missing ribs, Posterior rib fusion, ... ORPHA:1797
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Conical tooth, Hypoplastic nipples, Everted lower lip vermilion, Mic... OMIM:305100
Ehlers-Danlos Syndrome, Classic Type, 1
Bowel diverticulosis, Hyperextensibility of the finger joints, Lop ear, Hyperextensibility at elb... OMIM:130000
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Sensorineural hearing impairment, Micrognathia, Cleft palate, Glossoptosis ORPHA:440354
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Mixed hearing impairment, Cleft hard palate, Delayed eruption of teeth, Dental crowding, Sensorin... OMIM:300990
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Pectus excavatum, Micromelia, ... ORPHA:64755
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Pulmon... OMIM:614300
Branchiootorenal Syndrome 1
Euthyroid goiter, Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplas... OMIM:113650
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly, Ventriculomegaly, Short femur, Short tibia, Tal... OMIM:620306
Periventricular Nodular Heterotopia 1
Short finger, Cerebral hemorrhage, Syndactyly, Patent ductus arteriosus, Bicuspid aortic valve, C... OMIM:300049
Cleidocranial Dysplasia 1
Narrow palate, Supernumerary tooth, High, narrow palate, Delayed pubic bone ossification, Increas... OMIM:119600
Monosomy 18Q
Aortic aneurysm, Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pulmonary va... ORPHA:1600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Microphthalmia OMIM:614830
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Supernumerary tooth, Aplasia of the epiglottis, Dandy-Walker malformatio... OMIM:615948
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hyp... OMIM:618727
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, Wide mouth, Hypogonadism, Joint hypermobility, Cranial hyperostosis, Increased bone ... ORPHA:2658
Fraser Syndrome
Microphthalmia, Dental crowding, Abnormal pinna morphology, Microtia, Myelomeningocele, Death in ... ORPHA:2052
Bor Syndrome
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Abnormality of ... ORPHA:107
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Right atrial isomerism, Ascending tubular aorta aneurysm, Total anomalous... OMIM:270100
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Microphthalmia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, A... ORPHA:3301
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Polydactyly, Clinodactyly of the 5th finger, Facial palsy, Submu... OMIM:301022
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati... OMIM:619229
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Abnormal hip bone morphology, Overri... ORPHA:1110
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hydrocephalus, Triceps weakn... ORPHA:99947
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Microphthalmia, Cardiac rhabdomyoma, Palmar pits, Hydrocephalu... OMIM:109400
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Tracheomalacia, Short hard palate, Glossoptosis, Myelomeningocele, ... ORPHA:1393
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Cutis Laxa, Autosomal Recessive, Type Iic
Long philtrum, Dental crowding, Mandibular prognathia, High palate, Narrow mouth, Camptodactyly, ... OMIM:617402
Joubert Syndrome 27
Polydactyly, Molar tooth sign on MRI OMIM:617120
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Crypto... OMIM:618067
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Cofs Syndrome
Camptodactyly of finger, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1466
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, Notched primary central incisor, Hydrocele testis OMIM:620062
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Camptodactyly, Pulmonic stenosis, Tetralogy of ... OMIM:179613
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Finger syndactyly, Ectopic anus, Abnormality of the dentition, Arachnodactyl... ORPHA:2994
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Microphthalmia, Anal atresia, Asplenia, Hypoplastic pelvis, Clef... OMIM:273395
Monosomy 5P
Finger syndactyly, High palate, Small hand ORPHA:281
Facioscapulohumeral Muscular Dystrophy 1
Sensorineural hearing impairment, Tongue atrophy OMIM:158900
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior... OMIM:602433
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Rubinstein-Taybi Syndrome 1
Retrognathia, Dental crowding, Premature thelarche, Joint hypermobility, Narrow palate, Talon cus... OMIM:180849
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th finger, Gastroesophageal reflux, Prominent fingertip pads, B... OMIM:619721
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Femoral ... OMIM:613091
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Aplasia/Hypoplasia affecting the... ORPHA:1926
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,... ORPHA:216694
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal vari... OMIM:614576
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia, Ventriculomegaly, Ventricular septal defect, Hypoplastic lef... ORPHA:2772
Grant Syndrome
Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Abnormal rib morp... ORPHA:2097
C Syndrome
Thick anterior alveolar ridges, High palate, Low-set ears, Micrognathia, Wide mouth, Posteriorly ... OMIM:211750
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment,... ORPHA:3214
Galloway-Mowat Syndrome 7
Cubitus valgus, Hallux valgus, Single transverse palmar crease, High palate, Cleft lip, Arachnoda... OMIM:618348
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Absent thumb OMIM:617244
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Schilbach-Rott Syndrome
Microtia, Narrow mouth, Micrognathia, Bifid uvula, Posteriorly rotated ears, Submucous cleft hard... OMIM:164220
Chromosome 3Pter-P25 Deletion Syndrome
Thin vermilion border, Atrioventricular canal defect, High palate, Tapered finger, Anal atresia, ... OMIM:613792
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Cleft palate, Hypoplastic sweat glands, Natal tooth, Short philtrum OMIM:617337
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Brachydactyly OMIM:613819
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles OMIM:614373
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Thick lower lip vermilion, Mandibular prognathia, Low-set ears, Unila... OMIM:619103
Ring Chromosome 21 Syndrome
Narrow palm, Abnormal heart morphology, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand ORPHA:1445
Endocrine-Cerebroosteodysplasia
Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hydrocephalus, Microm... OMIM:612651
Joubert Syndrome 33
Molar tooth sign on MRI, Syndactyly OMIM:617767
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Burning Mouth Syndrome
Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm... ORPHA:353253
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Overlapping fingers, Spina bifida occulta, Single transverse palmar crease, Conge... OMIM:618291
20Q11.2 Microduplication Syndrome
Limited elbow extension, Tented philtrum, Retrognathia, Low-set, posteriorly rotated ears, Gingiv... ORPHA:363659
Alagille Syndrome 2
Cholestatic liver disease, Cholestasis, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal def... OMIM:610205
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate, Overfolded helix ORPHA:209908
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Proximal placement of thumb, Intestinal malrotation, Bifid uvula, Sple... OMIM:270400
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Eem Syndrome
Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno... ORPHA:1897
Kbg Syndrome
Finger clinodactyly, Single transverse palmar crease, Oligodontia, Congenital malformation of the... ORPHA:2332
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Microtia, Glossoptosis, Wrist flexion contracture, Micrognathia, Cleft palat... ORPHA:436003
Immunodeficiency 49
Short philtrum, Micrognathia, Natal tooth, Posteriorly rotated ears, Agenesis of corpus callosum,... OMIM:617237
Li-Ghorbani-Weisz-Hubshman Syndrome
Clinodactyly of the 5th finger, Ventriculomegaly, Patent ductus arteriosus, Overlapping toe, Atri... OMIM:618974
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Tracheomalacia, Lower-limb joint contracture, Right aortic arch, Increas... ORPHA:513456
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Bilateral talipes equinovarus, Inflammation of the large intestine, Pulmona... OMIM:619708
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Atelectasis, Retinal arterial tortuosity, Limb hypertonia, Tracheomalacia, Splenic... OMIM:620371
Ablepharon Macrostomia Syndrome
Thin vermilion border, Breast hypoplasia, Microtia, Microdontia, Hypoplasia of the maxilla, Campt... ORPHA:920
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Abnormal lower motor neuron morphology, Amyotrophic late... OMIM:613954
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Oligodontia, Natal tooth, Hypodontia, Hypogonadotropic hypogonadism OMIM:614381
Monosomy 18P
Microphthalmia, Short philtrum, Tooth malposition, Hypertension, Lymphedema, Carious teeth, Downt... ORPHA:1598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Inguinal hernia, Joint contracture of the 5th finger, Sandal gap, 2-3 toe syndact... OMIM:618914
Birk-Barel Syndrome
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion... OMIM:612292
Primrose Syndrome
Delayed puberty, Reduced bone mineral density, Generalized osteoporosis, Joint hypermobility, Ven... OMIM:259050
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Bell-shaped thorax, Hydrocephalus, Ap... OMIM:613686
Loeys-Dietz Syndrome 5
Retrognathia, Flexion contracture of toe, Cleft soft palate, High palate, Congenital finger flexi... OMIM:615582
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Abnormality of the hand OMIM:221770
Aase-Smith Syndrome I
Hydrocephalus, Slender finger, Cleft palate, Open mouth, Ventricular septal defect, Talipes equin... OMIM:147800
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Pierpont Syndrome
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Short palm, Short toe... OMIM:602342
Cardioacrofacial Dysplasia 2
Short philtrum, Conical tooth, Mandibular prognathia, Tented upper lip vermilion, Hypodontia, Acc... OMIM:619143
Bardet-Biedl Syndrome 9
Polydactyly, Bone spicule pigmentation of the retina, Postaxial hand polydactyly, Postaxial polyd... OMIM:615986
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Radial club hand, Microretrognathia, Microglossia ORPHA:1972
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis, Brachydactyly, Microspherophakia OMIM:614819
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormality of the hand, Hypoplasia of the radius, Aplasia/hypoplasia inv... ORPHA:75508
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned co... OMIM:615761
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Thin lower lip vermilion, Sensorineural hearing impairment, Elbow flexion contractu... OMIM:619194
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Oligodontia, Abnormality of the dent... ORPHA:2315
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Icf Syndrome
Low-set ears, Protruding tongue, Communicating hydrocephalus, Micrognathia, Umbilical hernia, Mac... ORPHA:2268
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Retrognathia, Periodontitis, Premature loss of teeth, Sensorineural hearing impairmen... OMIM:619269
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the ... OMIM:615181
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Congenital Syphilis
Periostitis, Large placenta, Hydrocephalus, High palate, Notched primary central incisor, Synovit... ORPHA:499009
Solar Urticaria
Vertigo, Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Bifid uvula, Lateral ventricle dilatation, Joint hypermobility, Ventricul... ORPHA:500150
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cubitus valgus, Inguinal hernia, Tracheomalacia, Aortic aneurysm... ORPHA:96121
Microphthalmia, Syndromic 3
Microphthalmia, Esophageal atresia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypo... OMIM:206900
Carey-Fineman-Ziter Syndrome
Thin vermilion border, Glossoptosis, High palate, Micrognathia, Cleft palate, Pierre-Robin sequen... ORPHA:1358
Cutis Laxa, Autosomal Recessive, Type Iie
Thick lower lip vermilion, Deep palmar crease, Clinodactyly of the 5th finger, High palate, Synda... OMIM:619451
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Ingui... ORPHA:221120
Joubert Syndrome 17
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly, Molar tooth sign on MRI OMIM:614615
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, High palat... ORPHA:93258
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Low-set ears, Decre... ORPHA:85284
Rabson-Mendenhall Syndrome
Advanced eruption of teeth, Increased serum testosterone level, Dental crowding, Gingival overgro... ORPHA:769
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Low-set ears, Abnormal antitragus morphology, Posteriorly rotated ea... ORPHA:2759
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Tracheobronchomalacia, Microtia, Median pseudocleft lip, Craniosynostosis, Ventricu... OMIM:616462
Heart And Brain Malformation Syndrome
High, narrow palate, Microphthalmia, Limb hypertonia, Gastroesophageal reflux, Interrupted aortic... OMIM:616920
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Dental crowding, Umbilical hernia, Long philtrum, Narrow palate, Triangular mouth, ... OMIM:180700
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short finger, 2-3 toe syndactyly, Tapered finger, Pectus excavatum, Long fingers, Broad hallux, S... OMIM:618659
Native American Myopathy
High palate, Camptodactyly, Congenital contracture, Cryptorchidism, Conductive hearing impairment... ORPHA:168572
Perlman Syndrome
Congenital diaphragmatic hernia, Distal ileal atresia, Interrupted aortic arch, Hypoplasia of the... OMIM:267000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Deep p... OMIM:301056
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Elbow flexion contracture, Interphalangeal joint contract... ORPHA:1145
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Tarsal synostosis, Muscular ventricular septal defect, Hypoplast... OMIM:157800
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Colpocephaly, Ventriculomegaly, Macular hypoplasia ORPHA:2185
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft palate, Micrognathia, Bifid tongue ORPHA:2001
Cousin Syndrome
Microphthalmia, Hydranencephaly, Hydrocephalus, Stenosis of the external auditory canal, Low-set ... OMIM:260660
Branchiooculofacial Syndrome
Microphthalmia, Sensorineural hearing impairment, Microtia, Malrotation of colon, Ectopic thymus ... OMIM:113620
Senior-Loken Syndrome 9
Polydactyly, Cholestasis, Hypoplasia of the femoral head, Hepatic fibrosis, Chronic bronchitis OMIM:616629
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Optic nerve hypoplasia, Glossoptosis, Microdontia, Eclabion,... OMIM:602535
Hypophosphatasia
Abnormal metaphysis morphology, Emphysema, Narrow chest, Bowing of the long bones, Abnormal rib m... ORPHA:436
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim... ORPHA:93307
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Joint stiffness, Macrotia, Clef... ORPHA:2167
Microcephaly 27, Primary, Autosomal Dominant
Short finger, Hip subluxation, Clinodactyly of the 5th finger, Metatarsus adductus, Ventriculomeg... OMIM:619180
Moebius Syndrome
Breast aplasia, High palate, Everted lower lip vermilion, Microdontia, Tooth agenesis, Death in i... ORPHA:570
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Bardet-Biedl Syndrome 17
Polydactyly, Situs inversus totalis, Dextrocardia, Mesoaxial polydactyly, Postaxial hand polydact... OMIM:615994
Caudal Regression Syndrome
Abnormal iliac wing morphology, Abnormal pelvic girdle bone morphology, Missing ribs, Pulmonary h... ORPHA:3027
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Microphthalmia, Abnormal earlobe morphology, Anophthalmia, Hydrocephalus, Abnormal ... ORPHA:2556
Joubert Syndrome 37
Postaxial polydactyly, Molar tooth sign on MRI, Microphthalmia OMIM:619185
Familial Osteodysplasia, Anderson Type
Abnormal zygomatic bone morphology, Abnormal cortical bone morphology, Abnormal earlobe morpholog... ORPHA:2769
Pierpont Syndrome
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Excessive wrinkling o... ORPHA:487825
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Sensorineura... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Sensorineura... ORPHA:352665
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Gastroesophageal reflux, Patent foramen ovale, Pulmonic stenosis,... OMIM:619149
Lelis Syndrome
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue ORPHA:140936
Teebi-Shaltout Syndrome
Rocker bottom foot, High, narrow palate, Caudal appendage, Microphthalmia, Single transverse palm... OMIM:272950
Pachyonychia Congenita
Advanced eruption of teeth, Ear pain, Angular cheilitis, Natal tooth, Oral leukoplakia ORPHA:2309
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Coarctatio... OMIM:610338
Japanese Encephalitis
Pulmonary edema, Hyperintensity of MRI T2 signal of the spinal cord, Distal upper limb muscle wea... ORPHA:79139
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Downturned corners ... OMIM:617865
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Rocker bottom foot, Arachnodactyly, Coxa valga, Hip dislocati... ORPHA:3342
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Micromelia, Preductal coarctation of the aorta, Advanced tarsal ossification, ... OMIM:215045
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
3Mc Syndrome 2
Limited elbow movement, High palate, Hearing impairment, Cleft upper lip, Downturned corners of m... OMIM:265050
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Bronchomalacia, Microcolon, Pulmonary hypoplasia, Peritonitis, Patent ductus arter... OMIM:619351
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cleft soft palate, Microtia, Narrow mouth, Atresia of the external audi... OMIM:154500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Buphthalmos, Hydrocephalus, Dandy-Walker malformation, O... OMIM:236670
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Pat... ORPHA:2519
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Thin vermilion border, Retrognathia, Sensorineural hearing impairment, Gingival overg... OMIM:212066
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Genu valgum, Abnormal heart valve morphology, Pectus carinatum, Prominent st... OMIM:253000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met... ORPHA:85167
Joubert Syndrome 23
Polydactyly, Coloboma OMIM:616490
Schwartz-Jampel Syndrome
Flexion contracture of toe, Wrist flexion contracture, Abnormally ossified vertebrae, Everted low... ORPHA:800
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Joint contracture of the... OMIM:244300
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Sprengel anomaly, Brachydactyly ORPHA:2180
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, High... ORPHA:93259
Marshall Syndrome
Thick lower lip vermilion, Recurrent otitis media, Absent frontal sinuses, Knee osteoarthritis, S... OMIM:154780
Curry-Jones Syndrome
Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Triphalangeal hallux, Lipomyelomeni... OMIM:601707
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Short philtrum, Mandibular prognathia, Thyroid hypoplasia, Bilateral sensorineural h... ORPHA:521445
Nephronophthisis 15
Polydactyly, Elevated circulating hepatic transaminase concentration OMIM:614845
Spondylometaphyseal Dysplasia, Schmidt Type
Stenosis of the external auditory canal, Micrognathia, Cleft soft palate ORPHA:93316
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Hand muscle weakness, Abnormal lower motor neuron morphol... OMIM:606070
ERI1-related disease
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Hi... OMIM:608739
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Polyhydramnios, Symphalangism affecting the phalanges of... ORPHA:2547
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Abnormal metaphysis morphology, Hydrops fetalis, Esophageal atresia, Abnormal pelv... ORPHA:93271
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue ORPHA:2928
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Intestinal atresia, Ventricular ... ORPHA:3405
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Bifid uvula, Cleft palate OMIM:300958
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities, Shoulder muscle hypoplasia, Spina bifida occulta OMIM:184400
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Mesomeli... ORPHA:2347
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Clinodactyly of the 5th finger, Inguinal her... ORPHA:1272
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Overfolded helix, Everted lower lip vermilion, Protruding tongue, Macrotia... ORPHA:324410
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Degcags Syndrome
Microphthalmia, Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Syndactyly, Polydacty... OMIM:619488
Ellis Van Creveld Syndrome
Thin vermilion border, Delayed eruption of teeth, Conical incisor, Abnormality of the dentition, ... ORPHA:289
Achondrogenesis
Narrow chest, Short thorax, Micromelia, Umbilical hernia, Aplasia/Hypoplasia of the lungs ORPHA:932
Chst3-Related Skeletal Dysplasia
Long philtrum, Flexion contracture, Delayed eruption of teeth ORPHA:263463
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Ename... OMIM:212780
Hydrolethalus Syndrome 1
Abnormal lung lobation, Microphthalmia, Accessory spleen, Upper limb undergrowth, Postaxial hand ... OMIM:236680
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Arachnodactyly, Ventriculomegaly, Thoracic kyphosis ORPHA:2172
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal brainstem morphology ORPHA:1532
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Den... ORPHA:1855
Weill-Marchesani Syndrome
Pulmonic stenosis, Aortic valve stenosis, Short thumb, Brachydactyly, Ventricular septal defect ORPHA:3449
Neu-Laxova Syndrome 2
Rocker bottom foot, Polyhydramnios, Finger syndactyly, High palate, Spina bifida, Cleft palate, E... OMIM:616038
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Tented upper lip vermilion, Smooth philtrum, Brachydactyly, Clino... ORPHA:313781
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Absent thumb, Later... OMIM:602200
Temtamy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum ORPHA:1777
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Pectus carinatum, Tibial bowing, Cardiomyopathy, Mesomelia, Abnorma... ORPHA:175
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Pleural effusion, Pulmonic stenosis, Spl... ORPHA:2414
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy ORPHA:35689
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Carey-Fineman-Ziter Syndrome 1
Retrognathia, Trismus, Sensorineural hearing impairment, High palate, Glossoptosis, Micrognathia,... OMIM:254940
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Hypoparathyroidism, Low-set, posteriorly rotated ears, Spina bifi... ORPHA:235
Joubert Syndrome 28
Molar tooth sign on MRI, Pigmentary retinopathy OMIM:617121
Au-Kline Syndrome
Retrognathia, Supernumerary nipple, Ventriculomegaly, Sensorineural hearing impairment, Oligodont... OMIM:616580
Cherubism
Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ... OMIM:118400
Cornelia De Lange Syndrome 2
Limited elbow movement, Proximal placement of thumb, Short foot, Hypertrophic cardiomyopathy, Bra... OMIM:300590
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Atrial s... OMIM:263630
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Reduced bone mineral density, Laryngotracheomalacia, Glossoptosis, Abnorm... ORPHA:94068
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal diaphysis morphology, Narrow chest, Slender long bone, Clubbing of fingers, Triangular s... ORPHA:73230
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Intestinal malrotation, Tracheoesophageal fistula, Aplasia/Hypoplasia of the radius, Anal atresia ORPHA:2973
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Widely spaced teeth, Small pituitary gland, Short lingual frenulum, Low-set ears, Microdontia, Po... OMIM:619479
Acro-Renal-Ocular Syndrome
Microphthalmia, Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Preaxia... ORPHA:959
Scleromyxedema
Abnormality of the hand, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Stro... ORPHA:167635
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Hypoplasia of the brainstem OMIM:615771
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Ascending tubular aorta aneu... ORPHA:3092
Ogden Syndrome
Left atrial enlargement, Sandal gap, Dysphagia, Umbilical hernia, Bicuspid aortic valve, Cardiome... OMIM:300855
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Cheilit... ORPHA:534
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Thick lower lip vermilion, Underdeveloped superior crus of antihelix, Delaye... ORPHA:369950
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sandal gap, Ectopic anus, High palate, Abnormality of the dentition, Ca... ORPHA:251038
Hypoglossia-Hypodactyly Syndrome
High palate, Narrow mouth, Anal atresia, Death in infancy, Micrognathia, Cleft palate, Hypoplasia... ORPHA:989
Weaver Syndrome
Abnormal metaphysis morphology, Sandal gap, Finger syndactyly, Broad thumb, Camptodactyly of fing... ORPHA:3447
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short finger, Small epiphyses, Thin ribs, Thoracic kyphosis, Prominent sternum, Flared iliac wing... OMIM:300232
Hennekam Syndrome
Supernumerary tooth, Retrognathia, Short philtrum, Delayed eruption of teeth, Gingival overgrowth... ORPHA:2136
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Flexion contracture, Tongue atrophy OMIM:614678
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Restrictive cardiomyopathy, Pulmonic stenosis, Hepatic artery hyperplasia, Portal v... OMIM:619433
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepati... ORPHA:731
Hyperparathyroidism, Transient Neonatal
Narrow chest, Stroke, Short ribs, Femoral bowing, Short long bone, Metaphyseal spurs, Communicati... OMIM:618188
Arachnoid Cyst
Encephalocele, Hydrocephalus, Enlarged fossa interpeduncularis, Holoprosencephaly, Subarachnoid h... ORPHA:2356
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Postaxial hand polydactyly ORPHA:1454
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Hypoplasia of the pons, Left ventricular hypertrophy, Hypoplasia o... OMIM:613153
Rothmund-Thomson Syndrome
Osteopenia, Supernumerary tooth, Reduced bone mineral density, Delayed eruption of teeth, Abnorma... ORPHA:2909
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Cleft palate, Broad hallux, Cong... OMIM:304110
Tetraploidy
Aplasia/Hypoplasia affecting the eye, Cleft palate, Radial club hand, Aplasia/Hypoplasia of the l... ORPHA:3305
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anophthalmia, Omphalocele, Anteriorly placed anus OMIM:248450
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Genu valgum, Prominent sternum, Bilateral talipes equinovarus, Aortic valve ... OMIM:253010
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste... OMIM:602782
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Gastroesophageal reflux, Finger syndactyly, Single transverse palmar c... ORPHA:435938
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Single transverse palmar crease, Absent distal phalanges, Short mi... OMIM:614219
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Arachnodactyly, Bifid uvula, Mitral valve prolapse, Bicus... OMIM:614816
Kury-Isidor Syndrome
Rocker bottom foot, Widely spaced teeth, Proximal placement of thumb, Triangular mouth, Finger sy... OMIM:619762
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal... ORPHA:284169
Dubowitz Syndrome
Microphthalmia, Delayed eruption of teeth, High palate, Low-set ears, Hypoplasia of the iris, Cry... OMIM:223370
Robinow Syndrome, Autosomal Recessive 1
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Dental crowding, To... OMIM:268310
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated circulating parathyroid hormone level, Delayed epiphyseal ossification, Delayed... ORPHA:289157
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ... OMIM:147891
Yunis-Varon Syndrome
Rocker bottom foot, Microphthalmia, Broad secondary alveolar ridge, Abnormal finger morphology, H... ORPHA:3472
Joubert Syndrome 4
Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Elongated superior cerebellar pe... OMIM:609583
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Short umbilical cord, Small placenta, Slender long bone, Hydrocephalus, Thin ... OMIM:208150
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Duodenal atresia, Low-set ears, Camptodactyly, Thick upper lip vermili... OMIM:247200
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Preax... ORPHA:96179
Bardet-Biedl Syndrome 22
Polydactyly, Postaxial foot polydactyly OMIM:617119
Craniofacioskeletal Syndrome
Clinodactyly of the 5th finger, Interrupted aortic arch, Narrow iliac wing, Short palm, Cleft pal... OMIM:300712
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Joubert Syndrome 30
Molar tooth sign on MRI, Postaxial hand polydactyly OMIM:617622
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Neural tube defect, Ventriculomegaly, Hypoplastic pubic bone, Delay... ORPHA:798
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Atrial septal defect, Molar tooth sign on MRI, Pigmentary... OMIM:608629
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth, Hiatus hernia, Umbilical hernia OMIM:619769
Syngap1-Related Developmental And Epileptic Encephalopathy
Thin vermilion border, Narrow mouth, High palate, Postaxial polydactyly, Wide mouth ORPHA:544254
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Polyhydramnios, Finger syndactyly, Aplasia of the proximal phalanges of t... ORPHA:2256
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Finger syndactyly, Bilateral cleft palate, Anal atresia, Carious teeth ORPHA:1997
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Duodenal ulcer, Sandal gap, Dislocated radial head, Prominent fi... OMIM:135900
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... OMIM:184705
Trichodermodysplasia-Dental Alterations Syndrome
Supernumerary tooth, Adenoma sebaceum, Delayed eruption of teeth, Tooth agenesis, Abnormal dental... ORPHA:3353
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Supernumerary tooth, Widely spaced teeth, Conical tooth, Sensorineural hearing impairment, Microt... ORPHA:90024
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Pulmonary hypoplasia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Cardiomegaly, Ar... OMIM:608013
Opitz-Kaveggia Syndrome
Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br... OMIM:305450
Zimmermann-Laband Syndrome 1
Spina bifida occulta, Short philtrum, Gingival fibromatosis, Hyperextensibility of the finger joi... OMIM:135500
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Saul-Wilson Syndrome
Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of the hand, Flared ... OMIM:618150
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Flared ... OMIM:277590
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Ventriculomegaly, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Hydrocephalus, High palate, Pleural effusion, Camptodactyly, Pericardial eff... OMIM:617822
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Gapo Syndrome
Long philtrum, High, narrow palate, Thick lower lip vermilion, Breast hypoplasia, Protruding ear,... OMIM:230740
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Neonatal death OMIM:609638
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Patent ductus... ORPHA:17
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia... OMIM:274000
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Malar flattening OMIM:122880
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Ecto... ORPHA:2473
Tetrasomy 9P
Bilateral single transverse palmar creases, Juxtaductal coarctation of the aorta, Biliary atresia... ORPHA:3310
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Patent foramen ovale, Prominent fingertip pads, Increased nuchal translucency, Ab... OMIM:618494
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Abnormality of the gingiva, Abnormal oral mucosa morpholo... ORPHA:530
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Persistent left superior vena cava, Pulmonary ... OMIM:615067
Senior-Loken Syndrome 8
Polydactyly, Vascular dilatation, Intrahepatic bile duct dilatation, Hepatic cysts, Pancreatic cysts OMIM:616307
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Finger syndactyly, Cerebral ischemia, Foot polydactyly, Hand polydactyly, Wide mou... ORPHA:60040
Nephrotic Syndrome, Type 11
High palate, Cleft lip, Arachnodactyly, Partial duplication of thumb phalanx, Cleft palate, Smoot... OMIM:616730
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology OMIM:602196
Nanophthalmos 4
Microphthalmia OMIM:615972
Desbuquois Dysplasia 2
Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Bifid uvul... OMIM:615777
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia ORPHA:2717
Buratti-Harel Syndrome
Microtia, High palate, Low-set ears, Velopharyngeal insufficiency, Bifid uvula, Posteriorly rotat... OMIM:619314
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Umbilical hernia, Metaphyseal irregularity, Prominent de... OMIM:619636
Fontaine Progeroid Syndrome
Microphthalmia, Abnormal heart morphology, Recurrent aspiration pneumonia, Syndactyly, Umbilical ... OMIM:612289
White-Sutton Syndrome
Congenital diaphragmatic hernia, Abnormality of the gastrointestinal tract, Ventral hernia, Ingui... ORPHA:468678
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth... ORPHA:289176
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
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Thick vermilion border, Macrodontia of permanent maxillary central incisor, O... OMIM:620114
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Contracture of the proximal interphalangeal joint of the 2nd finger, Slender finger OMIM:609813
De Barsy Syndrome
Patent ductus arteriosus, Inguinal hernia, Hypoplastic aortic arch, Prominent veins on trunk, Hig... ORPHA:2962
Renal Agenesis
Talipes equinovarus, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowing, Abnormal pelvic girdle bone mo... OMIM:166210
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Pectus excavatum, Camptodactyly of finger, Ventriculomegaly, Dilated cardiomyopathy ORPHA:272
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Radial club hand, Cleft palate, Holoprosencephaly, Abnormal morphology of the radius, M... ORPHA:2165
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Gastrointestinal carcinoma, Aortic aneurysm, Stroke, Clubbing... OMIM:175050
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Bifid uvula, Cleft palate OMIM:606164
Knobloch Syndrome 2
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Encephalocele, Pate... OMIM:618458
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Narrow palate, Bicuspid aortic valve, Atrial septal defect, Broad distal phalanx of finger, Gastr... ORPHA:353281
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Finger syndactyly, Hand polydactyly, Brachydactyly, I... ORPHA:2377
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis OMIM:615985
Achondrogenesis, Type Ii
Short tubular bones of the hand, Barrel-shaped chest, Abnormally large globe, Hypoplastic iliac w... OMIM:200610
Kabuki Syndrome
Congenital diaphragmatic hernia, Small hand, Abnormal cardiac septum morphology, High palate, Coa... ORPHA:2322
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Bohring-Opitz Syndrome
Narrow palate, Polyhydramnios, Deep palmar crease, Dislocated radial head, Bilateral cleft palate... OMIM:605039
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ... ORPHA:353277
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Right ventricular hypertro... OMIM:178600
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia, Agenesis of corpus callosum, Lateral ventricle dilata... OMIM:300952
Robinow Syndrome, Autosomal Dominant 3
Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypoplastic right... OMIM:616894
Autosomal Dominant Robinow Syndrome
Retrognathia, Umbilical hernia, Long philtrum, Anodontia, Short philtrum, Oligodontia, Hearing im... ORPHA:3107
Distal Deletion 10Q
Spina bifida occulta, Abnormality of the outer ear, High palate, Low-set ears, Anal atresia, Coch... ORPHA:96148
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Incontinentia Pigmenti
Orofacial cleft, Microphthalmia, Hearing abnormality, Spina bifida occulta, Delayed eruption of t... ORPHA:464
Aicardi Syndrome
Delayed puberty, Microphthalmia, Intestinal polyposis, Short philtrum, Precocious puberty, Cleft ... ORPHA:50
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Arachnodactyl... OMIM:609192
Trisomy 5P
Ventriculomegaly, Abnormal metacarpal morphology ORPHA:1742
19P13.12 Microdeletion Syndrome
Thin vermilion border, Deep palmar crease, Aortic regurgitation, Sandal gap, Clinodactyly of the ... ORPHA:254346
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hydrocephalus, Hyperextensibility of the finger joints, Anterior creases of earlobe, ... OMIM:115150
Floating-Harbor Syndrome
Short philtrum, Oligodontia, Low-set ears, Cochlear malformation, Microdontia, Persistence of pri... ORPHA:2044
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Downturned corners of mouth, Cryptorchidism, Abnormal tongue morphology ORPHA:531151
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Mitral valve prolapse, Umbilical hernia, Hip dislocation, Inguinal hernia, E... ORPHA:1900
Septooptic Dysplasia
Polydactyly, Short finger, Optic nerve hypoplasia, Optic disc hypoplasia OMIM:182230
Barber-Say Syndrome
Breast aplasia, Delayed eruption of teeth, Abnormal pinna morphology, Hypoplastic nipples, Hearin... ORPHA:1231
Orofaciodigital Syndrome Type 3
Dandy-Walker malformation, Low-set ears, Abnormality of the dentition, Irregular dentition, Bifid... ORPHA:2752
Cone-Rod Dystrophy 16
Postaxial polydactyly, Bone spicule pigmentation of the retina OMIM:614500
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... OMIM:618447
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
Aicardi Syndrome
Microphthalmia, Dandy-Walker malformation, Dilated third ventricle, Spina bifida, Precocious pube... OMIM:304050
Singleton-Merten Syndrome 1
Osteopenia, Osteolytic defects of the phalanges of the hand, Hypoplasia of the tooth germ, Erupti... OMIM:182250
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Distal Deletion 12Q
Supernumerary tooth, High, narrow palate, Maturity-onset diabetes of the young, Annular pancreas,... ORPHA:96149
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Protruding tongue, Sinusitis, Micrognathia, Malar flattening, Macroglossia OMIM:242860
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, Bicuspid aortic val... OMIM:620067
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Rectovaginal fistula, Postaxial hand polydactyly, Anal atresia, Congenital... OMIM:236700
Digeorge Syndrome
Right aortic arch with mirror image branching, High, narrow palate, Atelectasis, Patent ductus ar... OMIM:188400
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,... ORPHA:268810
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Joubert Syndrome 1
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Brainstem dysplasia, Postaxial h... OMIM:213300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Branchial anomaly, Oligodontia, Abnormal helix morphology, High palate, Furrowed tong... ORPHA:453499
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Sensorineural hearing impairment, Glossoptosis, Sinusitis, Osteo... ORPHA:47
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Microtia, Micrognathia, Cleft palate, Anotia OMIM:243440
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele, Dextrocardia, Patent ductus arteriosus ORPHA:1571
Restrictive Dermopathy
Short umbilical cord, Large placenta, Transposition of the great arteries, Small placenta, Dextro... ORPHA:1662
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Hearing abnormality, Low-set, posteriorly rotated ears, Meningocele, Glossoptosis, Protruding ear... ORPHA:2031
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal ethmoid bone morphology, Delayed pubic bone ossification, Abnormal mandible condylar pro... ORPHA:2976
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia, Multiple cafe-au-lait spots OMIM:609054
Familial Adenomatous Polyposis
Eruption failure, Odontoma, Pituitary adenoma, Duodenal adenocarcinoma, Multiple gastric polyps, ... ORPHA:733
Charcot-Marie-Tooth Disease, Type 4C
Hearing impairment, Tongue fasciculations, Delayed brainstem auditory evoked response conduction ... OMIM:601596
Gaucher Disease, Type Ii
Hepatomegaly, Gastroesophageal reflux, Bronchiolitis, Double aortic arch, Recurrent aspiration pn... OMIM:230900
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Pigmentary retinopathy OMIM:612291
Noonan Syndrome 8
Pleural effusion, Ventricular septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left... OMIM:615355
Pallister-Hall Syndrome
Microphthalmia, Microtia, Hypothalamic hamartoma, Thyroid hypoplasia, Bifid uvula, Umbilical hern... ORPHA:672
Hamamy Syndrome
Everted lower lip vermilion, Wide mouth, Syndactyly, Prolonged QRS complex, Long philtrum, Long t... OMIM:611174
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Abnormal circulating follicle-stimulating hormone concentration, Calvar... ORPHA:93325
Intellectual Developmental Disorder, Autosomal Recessive 41
Prominent fingertip pads, Ventriculomegaly, Recurrent pneumonia, Clinodactyly of the 5th finger OMIM:615637
Hartsfield Syndrome
Semilobar holoprosencephaly, Diabetes insipidus, Alobar holoprosencephaly, Hypoplasia of the fron... OMIM:615465
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Pulmonary hypoplasia, Hepatic steatosis OMIM:231680
Aspergillosis
Hypersensitivity pneumonitis, Abnormal long bone morphology, Pleuritis, Stroke, Pleural effusion,... ORPHA:1163
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Cardiomyopathy, Short palm, Downturned corners of mouth, Cleft palat... OMIM:217980
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Acromesomelia, Patent foramen ovale, Recurrent pneumonia, Abnormal hear... ORPHA:500159
Doors Syndrome
Broad alveolar ridges, Adrenal hyperplasia, Long philtrum, Narrow palate, Sirenomelia, Dandy-Walk... ORPHA:79500
Familial Adenomatous Polyposis 1
Supernumerary tooth, Duodenal polyposis, Adrenocortical adenoma, Eruption failure, Odontoma, Papi... OMIM:175100
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Cleft Soft Palate
Cleft soft palate OMIM:119570
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Dental crowding, Optic nerve hypoplasia, Wide mouth, Malrotation ... ORPHA:93932
Cantú Syndrome
Abnormal metaphysis morphology, Narrow chest, Short hallux, Finger syndactyly, Abnormal heart val... ORPHA:1517
Pachyonychia Congenita 2
Natal tooth, Angular cheilitis, Oral leukoplakia OMIM:167210
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Codas Syndrome
Rectovaginal fistula, Delayed eruption of teeth, Sensorineural hearing impairment, Delayed ossifi... OMIM:600373
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Atrial septal defect, Interrupted aortic arch, Hyperextensibility of the fing... ORPHA:163979
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Talipes equinovarus OMIM:191830
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Hydrocephalus, Postaxial polydactyly, Ventriculomegaly, Ventricular septal d... OMIM:219730
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Cleft palate, Tetralogy of Fallot, ... ORPHA:1727
Campomelia, Cumming Type
Hydrops fetalis, Abnormal intestine morphology, Lymphedema, Bowing of the long bones, Micromelia,... ORPHA:1318
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Cervical myelopathy, Genu valgum, Delayed eruption of teeth, Hydrocepha... OMIM:253200
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thum... OMIM:268300
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Radial deviation of finger, Sandal gap, Aortic valve stenosis, Syndactyly, Umbilical hernia, Bicu... OMIM:618164
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Oculodentodigital Dysplasia
Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Carious teeth... ORPHA:2710
Autosomal Recessive Spastic Paraplegia Type 53
Ventriculomegaly, Pectus carinatum, Upper limb hypertonia ORPHA:319199
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Sh... OMIM:271665
17P13.3 Microduplication Syndrome
Ventriculomegaly, Clinodactyly of the 5th finger, Congenital hip dislocation ORPHA:217385
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Ventriculomegaly, Odontogenic keratocysts of the jaw ORPHA:199276
Congenital Disorder Of Glycosylation, Type Iih
Clinodactyly of the 3rd toe, Bilateral coxa valga, Clinodactyly of the 4th toe, Ventriculomegaly,... OMIM:611182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, 11 pairs of ribs, Anencephaly, Hydrocephalus, Dandy-Walker malformation,... OMIM:615287
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Hypoglossia-Hypodactylia
Retrognathia, Narrow mouth, Micrognathia, Microglossia, Aglossia OMIM:103300
Congenital Myopathy 12
High, narrow palate, High palate, Camptodactyly, Jaw contracture, Pulmonary artery stenosis, Arac... OMIM:612540
Restrictive Dermopathy 1
Rocker bottom foot, Short umbilical cord, Atrial septal defect, Thin clavicles, Short clavicles, ... OMIM:275210
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Trisomy 8P
Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Bifid uvula, Malrotation of small bo... ORPHA:264450
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Ulnar deviation of the wrist, Clinodactyly OMIM:618577
Bnar Syndrome
Short lingual frenulum, Anal stenosis, Anteriorly placed anus ORPHA:217266
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Clubbing, Split hand, Coarctation of aorta, Cleft palate, Tetralogy of Fallot, Patent ductus arte... OMIM:600460
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Microphthalmia, Abnormality of retinal pigmentation OMIM:251270
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, High palate, Synostosis of car... ORPHA:710
Hardikar Syndrome
Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B... OMIM:301068
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg... OMIM:204690
Gardner Syndrome
Supernumerary tooth, Neoplasm of the pancreas, Adrenocortical adenoma, Odontoma, Abnormality of t... ORPHA:79665
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly OMIM:619694
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Prominence of the premaxilla, Abnormal cortical bone morphology, Cholelithiasis OMIM:614886
Weiss-Kruszka Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar crease, Hor... OMIM:618619
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Dislocated radial head, Ventriculomegaly OMIM:304100
Melnick-Needles Syndrome
Limited elbow extension, Stillbirth, Recurrent otitis media, Osteolytic defects of the phalanges ... OMIM:309350
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Broad thumb, Pulmonic stenosis, Splenomegaly, Clinodactyly, Myopathy, Varicose ... OMIM:612541
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short hallux, Finger syndactyly, High palate, Anal atresia, Intestinal malro... ORPHA:93260
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Knobloch Syndrome 1
Occipital encephalocele, Spina bifida occulta, Occipital meningocele, Patent ductus arteriosus, V... OMIM:267750
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Clinodactyly, Widely spaced teeth, Syndactyly OMIM:619092
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Widely spaced teeth, Ventriculomegaly, High palate, Low-set ears, Microdontia, Microg... OMIM:266920
Garg-Mishra Progeroid Syndrome
Microphthalmia, Narrow chest, Slender long bone, Thin ribs, Slender metacarpals, Broad palm, Coxa... OMIM:620601
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Eruption failure, High palate, Abnormality of the dentition, Micrognathia, Long ... ORPHA:476126
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Marden-Walker Syndrome
Retrognathia, Hydrocephalus, Narrow mouth, Low-set ears, Joint stiffness, Camptodactyly of finger... ORPHA:2461
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Pigmentary retinopathy OMIM:245800
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Osteopenia, Delayed eruption of teeth, Abnormal dental enamel morphology, H... ORPHA:221016
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, Long philtrum ORPHA:1252
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy OMIM:618499
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Microtia, Hearing impairment, Micrognathia, Submucous cleft soft palate, Crypt... ORPHA:2282
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Bilateral microphthalmos, Flexion contracture of toe, Flared metaphysis, Disl... OMIM:610758
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:1352
Warburg Micro Syndrome 1
Overlapping toe, Microphthalmia OMIM:600118
Ulbright-Hodes Syndrome
Pneumothorax, Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal,... ORPHA:3404
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Postaxial hand polyda... ORPHA:75389
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Limb-Mammary Syndrome
Protruding ear, Cleft hard palate, Breast aplasia, Hypoplastic nipples, Absent nipple, Bilateral ... ORPHA:69085
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Diabetes mellitus, Polycystic ovaries ORPHA:2348
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98795
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Microdontia, Hearing impairm... OMIM:301072
Gm1-Gangliosidosis, Type Iii
Foam cells, Hypoplastic acetabulae, Flared iliac wing, Cherry red spot of the macula, Ventriculom... OMIM:230650
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced bone mineral density, Elevated cir... ORPHA:79443
Enamel-Renal Syndrome
Amelogenesis imperfecta, Abnormal circulating calcium-phosphate regulating hormone concentration,... ORPHA:1031
Pseudo-Torch Syndrome 2
Thin ribs, Pleural effusion, Secundum atrial septal defect, Cerebral hemorrhage, Lateral ventricl... OMIM:617397
Sandestig-Stefanova Syndrome
Rocker bottom foot, Bilateral single transverse palmar creases, Perimembranous ventricular septal... OMIM:618804
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Bicuspid aortic valve, Pulmonic stenosis, Intestinal pseudo-obstruction OMIM:616201
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Carpal bone hypoplasia, Abnormal pelvic girdle bone morph... OMIM:601162
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Caudal Duplication
Spinal cord lesion, Myelomeningocele, Spina bifida ORPHA:1756
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcificati... OMIM:302960
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph... OMIM:608940
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Atrophic scars, Camptodactyly, Bilateral talipes equinovarus, Aortic dissect... OMIM:618343
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation OMIM:600151
Monosomy 9P
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Microphthalmia, Prox... ORPHA:261112
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Thyroid agenesis, Abnormal antihelix morphology, Neoplasm of the tongue, Thyroid hy... ORPHA:3047
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Microphthalmia, Flexion contracture of toe, Finger joint contracture ORPHA:48431
Lead Poisoning
Delayed puberty, Cranial hyperostosis, Delayed eruption of teeth, Miscarriage, Decreased circulat... ORPHA:330015
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Vascular dilatation, Clinodactyly of the 5th finger, Recurrent re... ORPHA:2637
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Temtamy Syndrome
Microphthalmia, Aortic aneurysm, Short 2nd toe, Brachydactyly, Ventriculomegaly, Talipes equinova... OMIM:218340
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hepatomegaly, Inguinal hernia, Cholelithiasis, Single t... ORPHA:83617
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Proximal placement o... ORPHA:199
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Bicuspid aortic valve, Patent ductus arteriosus, Dental crowding, Ventricular hypertrophy, High p... OMIM:620654
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Frontometaphyseal Dysplasia 2
Dislocated radial head, Short metacarpal, Broad thumb, Pulmonic stenosis, Bifid uvula, Bicuspid a... OMIM:617137
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Clinodactyly of th... OMIM:617877
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Palmoplantar cutis gyrata, Atrophic scars, Pulmonic stenosis, Arachnodactyly, Aortic valve stenos... ORPHA:75496
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Cupped... OMIM:271640
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs, Thin long bone diaphyses, Cortical thickening of long bone diaphyses, ... ORPHA:93324
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia, Ovarian neoplasm ORPHA:2221
Dominant Beta-Thalassemia
Delayed puberty, Hypoparathyroidism, Abnormality of the dentition, Osteoporosis, Hypothyroidism, ... ORPHA:231226
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Spinocerebellar tract degeneration, Abnormal lower motor neu... ORPHA:276244
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Proximal placement of thumb, Patent ... OMIM:620113
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cleft lip, Cutaneous syndactyly, Conical tooth OMIM:617681
Metachondromatosis
Pulmonic stenosis, Bowing of the long bones OMIM:156250
Stromme Syndrome
Preaxial polydactyly, Iris coloboma, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Intes... OMIM:243605
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Thoracic hypoplasia, Metaphyseal irregularity, Short 4th metacar... OMIM:618019
Oculodentodigital Dysplasia
Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, Broad alveolar ridges, Prema... OMIM:164200
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Aplasia of the epiglottis, Narrow chest, Short clavicles, Short ri... OMIM:617088
Roberts Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic... ORPHA:3103
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Thick vermilion border, ... ORPHA:2526
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Lipoma, Hypoplasia of the iris, Multiple central nervous system lipomas, Subcutan... OMIM:613001
Sweeney-Cox Syndrome
Polyhydramnios, Short philtrum, Short clavicles, Patent foramen ovale, Narrow mouth, High palate,... OMIM:617746
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Abnormal epiphysis morphology ORPHA:2770
Cri-Du-Chat Syndrome
Orofacial cleft, Thick lower lip vermilion, Short metatarsal, Short philtrum, Anterior open-bite ... OMIM:123450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Low-set ears, Contracture of the proximal interphalangeal joint of the 4th toe, Pylo... ORPHA:457279
Joubert Syndrome 35
Single transverse palmar crease, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c... OMIM:618395
Cockayne Syndrome B
Normal pressure hydrocephalus, Microphthalmia, Death in childhood, Sensorineural hearing impairme... OMIM:133540
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Bridged palmar cre... ORPHA:99330
X Small Rings
Bicuspid aortic valve, Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly... ORPHA:96201
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Flexion con... OMIM:617114
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pectus carinatum, Fe... OMIM:114290
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Keutel Syndrome
Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Recurren... OMIM:245150
Bartsocas-Papas Syndrome
Finger syndactyly, Narrow mouth, Aplasia/Hypoplasia of the distal phalanges of the toes, Cleft pa... ORPHA:1234
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... ORPHA:2788
Christianson Syndrome
Adducted thumb, Ventriculomegaly, Pectus excavatum, Abnormal thorax morphology ORPHA:85278
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Bifid uvula, Spina... OMIM:617660
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Low-set ears, Micrognathia, Long philtrum, Ventriculomegaly, Dental maloc... ORPHA:444072
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Delayed eruption of teeth, Hydrocephalus, Hearing im... ORPHA:667
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Short lower limbs, Multiple rib fractures, Pectus excavatum OMIM:259440
Dihydropyrimidine Dehydrogenase Deficiency
Retrognathia, Delayed eruption of teeth, High palate, Open mouth, Large earlobe, Deep philtrum, M... ORPHA:1675
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Thick lower lip vermilion, Absent frontal sinuses, Sensorineural hearing impairment, Mandibular p... OMIM:301040
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u... ORPHA:163649
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Kyphomelic Dysplasia
Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, T... OMIM:211350
Noonan Syndrome 10
Cubitus valgus, High palate, Pleural effusion, Hypertrophic cardiomyopathy, Ventricular septal de... OMIM:616564
Duodenal Atresia
Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas, Duodenal atresia ORPHA:1203
Myoclonic-Astatic Epilepsy
Microphthalmia, Thick lower lip vermilion, Wide mouth, Syndactyly, Broad philtrum, Long philtrum,... ORPHA:1942
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Bilateral microphthalmos, Abnormal pons morphology ORPHA:77299
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Short thorax, Abnormal heart valve morphology, Pectu... ORPHA:582
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Intestinal malrotation, Aortic valve stenosis, Bifid uvula, Umbi... OMIM:601803
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short philtrum, Rectovaginal fistula, Short lingual frenulum, Low-set ears, Precocious puberty, P... OMIM:608980
Cranioectodermal Dysplasia 2
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholestasis, Biliary ci... OMIM:613610
Shwachman-Diamond Syndrome
Osteopenia, Steatorrhea, Decreased response to growth hormone stimulation test, Delayed eruption ... ORPHA:811
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Short ribs, Missing ribs, Pulmonary hypoplasia, Rib fusion OMIM:271520
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Myocardial necrosis, Abnormal midbrain morphology, Abnor... ORPHA:68
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:411511
Bazex-Dupre-Christol Syndrome
Joint hypermobility, Furrowed tongue OMIM:301845
Moyamoya Disease
Ventriculomegaly, Abnormal cerebral vascular morphology ORPHA:2573
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal hip bone morphology, Abnormal rib morphology, Abnormal clavicle morpho... ORPHA:2522
C Syndrome
Thin vermilion border, Low-set, posteriorly rotated ears, Gingival overgrowth, Limitation of join... ORPHA:1308
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp... ORPHA:246
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal cortical bone morphology, Trismus, Smooth tongue, Elbow flexion contracture,... ORPHA:3206
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Widely spaced teeth, Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Hypopl... OMIM:280000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Supernumerary tooth, Retrognathia, Widely spaced teeth, Decreased response to growth hormone stim... ORPHA:268261
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Flat acetabular roof, Coarctation of aorta, Tetralogy of Fallot, Short femoral n... OMIM:617159
Cronkhite-Canada Syndrome
Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp... ORPHA:2930
Cranioectodermal Dysplasia 3
Cirrhosis, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndactyly,... OMIM:614099
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Low-set ears, Protruding tongue, Colpocephaly, Agenesis of corpus callosum, ... OMIM:620352
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly OMIM:226700
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal hip bone morphology, Hydrocephalus, Generalized hypopigmentation, Abnormal brainstem mor... ORPHA:2720
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Dandy-Walker malformation, Short metacarpal, Toe syndactyly, Ven... ORPHA:2611
Malan Overgrowth Syndrome
Optic disc hypoplasia, Slender long bone, Pectus excavatum, Lateral ventricle dilatation, Ventric... ORPHA:420179
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Dysplastic corpus callosum, High, narrow palate, Widely spaced teeth, Short phil... OMIM:300967
Roifman-Chitayat Syndrome
Short metatarsal, Short metacarpal, Umbilical hernia, Pneumonia, Ventriculomegaly, Cone-shaped ep... OMIM:613328
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Abnormality of the dentition, Anal atresia, Short foot, Postaxial polyd... OMIM:300968
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Osteopetrosis, Thick lower lip vermilion, Tooth malposition, High palate, Abnormali... ORPHA:2785
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Osteopenia, Delayed eruption of teeth, Abnormal dental enamel morphology, A... ORPHA:221008
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Asplenia, Pulmonic ... OMIM:619123
Mend Syndrome
Polydactyly, Hydrocephalus, 2-3 toe syndactyly, High palate, Aortic valve stenosis, Long fingers,... OMIM:300960
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Ventriculomegaly, Dilated cardiomyopathy, Scapular winging ORPHA:206559
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Clinodactyly of the 5th finger, Triphalangeal thumb, Ventriculomegaly, Dandy-Walker malformation,... OMIM:220500
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, High palate, Pulmonic stenosis, Aortic valve stenosis, Mitral va... ORPHA:228410
Frontometaphyseal Dysplasia
Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broa... ORPHA:1826
Genitopatellar Syndrome
Atrial septal defect, Anal stenosis, Anal atresia, Hypoplastic ischia, Congenital hip dislocation... OMIM:606170
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Neonatal death OMIM:613730
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Slender long bone, Thin ribs, Short palm, Short foot, Small hand OMIM:244460
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Proximal placement of thumb, Alobar holoprosencephaly OMIM:615433
Retinitis Pigmentosa 51
Polydactyly, Bone spicule pigmentation of the retina OMIM:613464
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Short finger, 2-3 toe cutaneous syndactyly, Dilation of Virchow-Robin spaces, Clinodactyly of the... OMIM:300998
Dpagt1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Camptodactyly, Arachnodact... ORPHA:86309
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, High, narrow palate, Radial deviation of finger, Clinodactyly of... OMIM:613406
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Microphthalmia, Upper limb asymmetry, Umbilical hernia, Edema ORPHA:2505
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Broad distal phalanx of finger, Aor... OMIM:300989
Bardet-Biedl Syndrome 1
High, narrow palate, Aganglionic megacolon, Radial deviation of finger, Dental crowding, Hyperten... OMIM:209900
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Cleft palate, Aganglionic megacolon, Iris coloboma ORPHA:66629
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Small pituitary gland, Dental crowding, Thyroid hypoplasia, Wide mouth, Joi... OMIM:619503
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture, Dysphagia OMIM:615919
49,Xxxyy Syndrome
Narrow chest, Bilateral talipes equinovarus, Recurrent upper respiratory tract infections, Ventri... ORPHA:261534
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Orofacial cleft, Cyclopia, Hypoplasia of the radius, Microphthalmia, Apla... ORPHA:3186
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Narrow chest, Short metacarpal, Abnormal rib morphology, Rhizomelic arm shortening, ... ORPHA:93317
Scalp-Ear-Nipple Syndrome
Breast aplasia, Delayed eruption of teeth, Small earlobe, Microtia, Underdeveloped tragus, Abnorm... ORPHA:2036
Mend Syndrome
Microphthalmia, Hydrocephalus, 2-3 toe syndactyly, High palate, Aortic valve stenosis, Asymmetry ... ORPHA:401973
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Mixed hearing impairment, Tarsal synostosis, Sensorineural hearing impai... OMIM:272460
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Supernumerary ribs ORPHA:163961
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Optic nerve hypoplasia, Patent foramen ovale, High... OMIM:617506
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Abnormality of the palmar creases, Patent foramen ovale, Cardiomegaly, Atrial sep... OMIM:618652
Plummer-Vinson Syndrome
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy ORPHA:54028
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Hearing impairment, Juvenile rhe... OMIM:266270
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Ventriculomegaly, Optic nerve hypoplasia ORPHA:228384
Cerebellofaciodental Syndrome
Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ... OMIM:616202
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Incontinentia Pigmenti
Breast hypoplasia, Microphthalmia, Delayed eruption of teeth, Conical tooth, Breast aplasia, Olig... OMIM:308300
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventriculomegaly, Broad thumb, Down-sloping shoulders, Overlapping toe, Atrial septal defect, Ven... OMIM:617452
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Rubinstein-Taybi Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Finger syndactyly, High palate, Abnormality of th... ORPHA:783
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Clinodactyly of the 5th finger, Single transverse palmar crease, Bilateral talipes equinovarus, H... OMIM:617807
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Patent ductus arteriosus, Oligohydramnios, Small hand OMIM:616489
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Deviation of finger, Abnorm... ORPHA:903
Beta-Thalassemia Major
Delayed puberty, Hypoparathyroidism, Abnormality of the dentition, Osteoporosis, Hypothyroidism, ... ORPHA:231214
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Limitation of movement at ankles, ... ORPHA:98794
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:617563
Hurler Syndrome
Abnormal clavicle morphology, Abnormal diaphysis morphology, Abnormality of the elbow, Hydrocepha... ORPHA:93473
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ... ORPHA:402075
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Short philtrum, Exaggerated cupid's bow, High palate, Short metacarpal, Camptodac... OMIM:614230
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Pulmonic stenosis, Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve, Abnormal pulmon... ORPHA:137634
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Acrofrontofacionasal Dysostosis 2
High palate, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly OMIM:239710
Ogden Syndrome
High, narrow palate, Torticollis, Inguinal hernia, Pulmonary artery stenosis, Broad hallux, Ventr... ORPHA:276432
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Aganglionic megacolon, Anal stenosis, Anal atresia, Shortening of all distal phalanges of the fin... OMIM:614749
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Patent foramen ovale, Cafe-au-l... OMIM:609053
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis, High, narrow palate, High palate OMIM:301950
Neurofaciodigitorenal Syndrome
Abnormal tragus morphology, Abnormality of the philtrum, Mandibular prognathia, Abnormal pinna mo... ORPHA:2673
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Supernumerary tooth, Thin vermilion border, Hearing impairment, Thick vermilion border, Malar fla... ORPHA:86818
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Ventriculomegaly, Avascular necrosis of the capital femoral epiphysis OMIM:611555
Filippi Syndrome
Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th toe, C... ORPHA:3255
Faciocardiomelic Syndrome
Osteopenia, Hyperplasia of the maxilla, Micrognathia, Wide mouth, Long philtrum, Dental malocclus... OMIM:612731
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, High palate, Abnormal heart morphology, Tented upper lip vermilion, Deep philtrum ORPHA:314655
Marfan Syndrome
Arachnodactyly, Equinus calcaneus, Mitral valve prolapse, Bicuspid aortic valve, Mitral annular c... OMIM:154700
Adnp Syndrome
Advanced eruption of teeth, Thick lower lip vermilion, Protruding ear, Microtia, Low-set ears, Sm... ORPHA:404448
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Diabetes insipidus, Sensorineural hearing impairment, Microtia, High... OMIM:618500
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, High palate, Pulmonic stenosis, Recurrent pneumonia, Recurrent sinusitis, B... OMIM:618282
Coffin-Siris Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, Dandy-Walker malformation, Papillary thyroi... ORPHA:1465
Catel-Manzke Syndrome
Glossoptosis, High palate, Camptodactyly, Narrow mouth, Low-set ears, Cleft upper lip, Micrognath... OMIM:616145
Multiple Osteochondromas
Cervical myelopathy, Abnormal femur morphology, Deformed forearm bones, Abnormal lower limb bone ... ORPHA:321
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Annular pancreas, Broad alveolar ridges, Abnormal pinna morphology, Sensorineural... OMIM:616975
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Hypoplasia of the ovary, Optic nerve hypoplasia, Hydrocephalus, Intestinal mal... OMIM:619321
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Rhizomelia, Narrow chest, Thin ribs, Tibial bowing, Bowing of the lo... OMIM:613848
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Microdontia, Cleft upper lip, Cutaneous finger syndactyly, Anodontia... OMIM:225060
Tolchin-Le Caignec Syndrome
Sensorineural hearing impairment, Abnormal vestibular function, Narrow mouth, High palate, Low-se... OMIM:618971
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Patent ductus arteriosus, Hydrocephalus, High palate, Congenital hip dislocation,... OMIM:104350
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventriculomegaly, Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Toe synda... ORPHA:505237
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Emphysema, Vascular dilatation, Inguinal hernia, Pyloric stenosis, Recurrent pneumo... ORPHA:90349
Spinocerebellar Ataxia Type 36
Hearing impairment, Vertigo, Tongue fasciculations, Tongue atrophy ORPHA:276198
Pitt-Hopkins Syndrome
Abnormal palate morphology, Aganglionic megacolon, Short philtrum, Tooth malposition, Abnormal he... ORPHA:2896
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Cockayne Syndrome A
Normal pressure hydrocephalus, Sensorineural hearing impairment, Mandibular prognathia, Abnormal ... OMIM:216400
Thoracic Outlet Syndrome
Varicose veins, Abnormal rib morphology ORPHA:97330
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Rib fusion OMIM:608681
Choanal Atresia
Polydactyly, Recurrent respiratory infections, Tracheomalacia ORPHA:137914
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Membranous subvalvular aortic stenosi... ORPHA:3191
Refsum Disease
Microphthalmia, Hammertoe, Cardiomyopathy, Short metacarpal, Abnormality of retinal pigmentation,... ORPHA:773
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Osteolytic defects of the phalanges of the hand, Decreased serum lept... ORPHA:280365
Loeys-Dietz Syndrome 3
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... OMIM:613795
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Emphysema, Abnormal intrahepatic bile duct morphology, Coronary artery atheroscleros... ORPHA:363618
Xylt1-Cdg
Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femoral neck, Broad ribs,... ORPHA:370930
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Mixed hearing impairment, Cleft soft palate, Conductive hearing impairment, Large joi... OMIM:614557
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Orofaciodigital Syndrome X
Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morpho... ORPHA:52
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Clinodactyly of the 5th finger, Rectovaginal fistula, Valvular pulmonary s... OMIM:300707
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Hypoplastic aortic arch, Hydrocephalus, Optic nerve hypoplasia, P... ORPHA:457284
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Microphthalmia, Hypoplasia of the brainstem, Abnormally large globe OMIM:615249
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Villous atrophy, Gastritis, Hepatomegaly, Inguinal hernia, Atri... ORPHA:84064
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Dandy-Walker malformation, High palate, Low-set ears, Cari... ORPHA:2834
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue, Joint stiffness, Ventriculomegaly, Thin bon... OMIM:230600
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Thin vermilion border, Low-set, posteriorly rotated ears, Short philtrum, Joint contr... ORPHA:363611
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Tethered cord, Myelome... OMIM:600145
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Recurrent pneum... ORPHA:1329
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Clinodactyly of the 5th finger, Optic nerve hypoplasia, Brachydactyly, Hip dysplasia, Ventriculom... OMIM:618381
Spinocerebellar Ataxia 36
Hearing impairment, Tongue fasciculations, Tongue atrophy OMIM:614153
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Odontoonychodermal Dysplasia
Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... OMIM:257980
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... ORPHA:1788
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Mungan Syndrome
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Pulmo... OMIM:611376
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Sensorineural hearing impairment, Narrow mouth, Low-set ears, Protruding tongue, De... OMIM:608779
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent otitis media, Downturned corners of mouth, Posteriorly rotated ears, Submucous cleft ha... OMIM:619680
Glomuvenous Malformation
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation, Abn... ORPHA:83454
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal testis morphology, Everted lower lip vermilion, Protruding tongue, Cryptorchidism, Heari... ORPHA:96147
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Single transverse palmar crease, Microphthalmia, Retinal pigment epithelial mottling, Broad hallux OMIM:614105
Baraitser-Winter Syndrome 1
Microphthalmia, Aortic valve stenosis, Duplication of phalanx of hallux, Patent ductus arteriosus... OMIM:243310
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly OMIM:619981
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Abnormal heart morphology, Vascular dilatation OMIM:617641
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Dysphagia, Hypertrophic cardiomyopathy ORPHA:638
Non-Acquired Panhypopituitarism
Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Absence of se... ORPHA:90695
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue, Oligoarthritis OMIM:614204
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cleft lip, Cleft palate, Cutaneous syndactyly ORPHA:2890
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Iris hypopigmentation, Ventricular septal defect, Microphthalmia ORPHA:85194
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Gingival overgrowth, Protruding tongue, Long philtrum, Ventriculomegaly OMIM:619179
Down Syndrome
Narrow palate, Delayed puberty, Aganglionic megacolon, Thick lower lip vermilion, Narrow mouth, A... ORPHA:870
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Ventriculomegaly, Short 3rd toe, Tapered finger, Short 4th toe OMIM:618707
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Gastroesopha... OMIM:610759
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Hepatomegaly, Leiomyosarcoma, Inguinal hernia,... ORPHA:116
Occipital Horn Syndrome
Cholestasis, Large iliac wing, Absent tibia, Dysphagia, Aplasia/hypoplasia of the humerus, Aplast... ORPHA:198
Ring Chromosome 22 Syndrome
Macrotia, Thick vermilion border, Agenesis of corpus callosum, Protruding tongue ORPHA:1446
Ring Chromosome 10 Syndrome
Microphthalmia, Tapered finger, Sandal gap ORPHA:1438
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Joint hypermobility, Abnormality of the ear, Decreased response to growth hormone s... ORPHA:3455
Carpenter Syndrome 2
Broad thumb, Umbilical hernia, Long philtrum, Narrow palate, Transposition of the great arteries,... OMIM:614976
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Vascular dilatation, Scapular win... ORPHA:500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Thin vermilion border, High, narrow palate, Clinodactyly of the 5th finger, Increased overbite, D... ORPHA:96182
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Tracheomalacia, Gingival overgrowth, Low-set ears, Protruding tongue, Wide mouth OMIM:618797
Developmental And Epileptic Encephalopathy 111
Inguinal hernia, Single transverse palmar crease, Pulmonary artery stenosis, Umbilical hernia, Re... OMIM:620504
Ramos-Arroyo Syndrome
Aganglionic megacolon, Smooth tongue, Narrow mouth, Bilateral sensorineural hearing impairment, C... ORPHA:1051
Tatton-Brown-Rahman Syndrome
Widely spaced toes, Aortic root aneurysm, Umbilical hernia, Short toe, Patent ductus arteriosus, ... ORPHA:404443
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy OMIM:619053
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral single transverse palmar creases, Finger syndactyly, Bilateral cleft palate, Abnormal d... ORPHA:3253
19Q13.11 Microdeletion Syndrome
Thin vermilion border, Solitary median maxillary central incisor, Clinodactyly of the 5th finger,... ORPHA:217346
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Hydrocephalus, High palate, Macrotia, Hypoplasia of the zygoma... ORPHA:1340
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Col... OMIM:210710
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Camptodactyly, Abnormal spinal cord morphology, Flexion ... ORPHA:88628
Antley-Bixler Syndrome
Narrow chest, Femoral bowing, Abnormal rib morphology, Camptodactyly of finger, Arachnodactyly, E... ORPHA:83
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Venous insufficiency, Abnormal lymphatic vessel morphology, Cell... ORPHA:568051
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Lymphedema, Finger aplasia, Hand polydactyly, Syndactyly OMIM:149000
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Short long bone, Short ribs, Cardiomyopathy, Split hand, Irregular carpal... OMIM:252600
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Lymphedema, Hypertrophic cardiomyopathy ORPHA:79279
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Lymphedema-Distichiasis Syndrome
Microphthalmia, Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymph... OMIM:153400
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Noonan Syndrome 2
Abnormal coronary artery origin, Atrial septal defect, Atrioventricular canal defect, Cubitus val... OMIM:605275
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Joubert Syndrome 6
Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Elo... OMIM:610688
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Narrow chest, Tibial bowing, Femoral bowing, Short long bon... ORPHA:140
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia... OMIM:619777
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Delayed puberty, Periodontitis, Oral ulcer, Thyroiditis, Gingivitis, Osteoporosis, Hy... ORPHA:79259
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... OMIM:605432
Okur-Chung Neurodevelopmental Syndrome
High palate, Overfolded helix, Low-set ears, Protruding tongue, Micrognathia, Umbilical hernia, J... OMIM:617062
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Inguinal hernia, High palate, Pulmonic stenosis, Enamel... OMIM:618205
Gorlin Syndrome
Palmar pits, Hydrocephalus, Abnormal rib morphology, Rib fusion, Cardiac fibroma, Arachnodactyly,... ORPHA:377
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Microphthalmia, Atrioventricular canal defect, Short first metatarsal, Ul... OMIM:619135
Okamoto Syndrome
Polydactyly, Anal stenosis, Abnormal left ventricle morphology, Abnormally large globe, Primum at... ORPHA:2729
Trisomy 20P
Abnormal palate morphology, Thin vermilion border, Abnormal hip bone morphology, Short philtrum, ... ORPHA:261318
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Horizon... OMIM:614857
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Sensorineural hearing impairment, Tongue fasciculations, Hearing impairment, ... OMIM:211530
Crane-Heise Syndrome
Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Ventriculomegaly, Hypoplastic ... ORPHA:1512
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Bell-shaped thorax, Diaphyseal sclerosis, Hydrocephalus, Dandy-Walker malformation, Pectus carina... OMIM:618476
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteopenia, Retrognathia, Abnormal circulating calcium-phosphate regulating hormone conc... ORPHA:2636
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Macrodontia of permanent maxillary central incisor, Bilateral cryptorchidism ORPHA:466722
Intellectual Developmental Disorder, Autosomal Dominant 51
Ventriculomegaly, Long toe, Dilation of Virchow-Robin spaces, Talipes equinovarus OMIM:617788
Stevenson-Carey Syndrome
Microphthalmia, Camptodactyly, Hip dysplasia, Atrial septal defect, Joint contracture of the hand OMIM:611961
Histidinuria-Renal Tubular Defect Syndrome
Rounded middle phalanx of finger, Ventriculomegaly, Short middle phalanx of finger ORPHA:2158
Wrinkly Skin Syndrome
Osteopenia, Long philtrum, Delayed eruption of teeth, High palate, Low-set ears, Microdontia, Car... OMIM:278250
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Arterial dissection, Pulmonic stenosis, Arachnodactyly, Bifid uvula, Abnorma... ORPHA:284984
Apc-Related Attenuated Familial Adenomatous Polyposis
Supernumerary tooth, Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical adenoma, Odonto... ORPHA:247806
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Single transverse palmar crease, Prominent sternum, Pectus excavatum, Camptodacty... ORPHA:254528
Smith-Kingsmore Syndrome
Short proximal phalanx of finger, Deep palmar crease, Rhizomelia, Thoracic hypoplasia, Umbilical ... OMIM:616638
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Coffin-Siris Syndrome 4
Short phalanx of the 5th toe, Pulmonary artery atresia, Ventricular septal defect, Mitral atresia... OMIM:614609
Koolen-De Vries Syndrome
Narrow palate, Aortic root aneurysm, Prominent fingertip pads, High palate, Hip dysplasia, Slende... OMIM:610443
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Downturned corners of mou... OMIM:180860
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Ventriculomegaly, Pectus carinatum, Hypertrophic cardiomyopathy... OMIM:619383
Mucopolysaccharidosis, Type X
Genu valgum, Spatulate ribs, Broad clavicles, Irregular acetabular roof, Aortic valve stenosis, T... OMIM:619698
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Recurrent otitis media, Severe periodontitis, Premature loss of teeth, Long upper ... ORPHA:99843
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Enamel hypoplasia, Craniosynostosis, Ventriculomegaly, Oral mucosal blisters ORPHA:79396
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Conical tooth, Midgut malrotation, Congenital h... OMIM:263750
8Q21.11 Microdeletion Syndrome
Microphthalmia, Abnormal metacarpal morphology, Short philtrum, Finger syndactyly, Exaggerated cu... ORPHA:284160
Legius Syndrome
Polydactyly, Clinodactyly of the 5th finger, Non-small cell lung carcinoma, Pulmonic stenosis, Mi... ORPHA:137605
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Mixed hearing impairment, Cervical C2/C3 v... ORPHA:444077
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Hyperpigmentation of the skin, Cafe-au-... OMIM:603467
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Mitr... ORPHA:508533
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Abnormal helix morphology, Lo... ORPHA:1519
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Epiphyseal dysplasi... ORPHA:583
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Knee flexion contracture, Sensorineural hearing impairment, Elbow flexion contracture, Furrowed t... OMIM:148210
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Coat hanger sign of ribs, Abnormal heart morphology, Thoracic hypoplasia, Umbilic... ORPHA:254534
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormality of the internal auditory canal, Progressive sensorineural hearing im... ORPHA:90646
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Xq12-Q13.3 Duplication Syndrome
2-3 toe syndactyly, Pectus excavatum, Cutaneous finger syndactyly, Recurrent upper respiratory tr... ORPHA:314389
Mowat-Wilson Syndrome
Microphthalmia, Aganglionic megacolon, Widely spaced teeth, Recurrent otitis media, Tooth malposi... OMIM:235730
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap OMIM:612918
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Abnormal mitral valve morphology, High palate, Pulmonic sten... ORPHA:1131
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Clinodactyly of the 5th finger, Gastroesophageal reflux, Inguinal ... OMIM:620568
Neurocardiofaciodigital Syndrome
Polydactyly, Double inlet left ventricle, Dilated fourth ventricle, Tetralogy of Fallot, Syndacty... OMIM:619869
Marfan Syndrome
Limited elbow movement, Aortic tortuosity, Arterial dissection, Arachnodactyly, Mitral valve prol... ORPHA:558
Nicolaides-Baraitser Syndrome
High, narrow palate, Thick lower lip vermilion, Widely spaced teeth, Short lingual frenulum, Ever... OMIM:601358
Noonan Syndrome 7
Deep palmar crease, Cubitus valgus, Abnormal esophagus morphology, Hypertrophic cardiomyopathy, P... OMIM:613706
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Thin ribs, Microphthalmia, Optic nerve hypoplasia OMIM:614833
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Brachydactyly, Slender long bone OMIM:618265
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Proximal placement of thumb, 2-3 toe syndactyly, Hypertrophic cardiomyopathy, Secundum atrial sep... OMIM:619121
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, High palate, Postaxial polydactyly, Long fin... OMIM:617527
Arima Syndrome
Molar tooth sign on MRI, Brainstem dysplasia, Postaxial hand polydactyly, Occipital meningocele, ... OMIM:243910
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Narrow chest, Angulated humerus, Short long bone, Bowing of the long bones, Mesomelia... OMIM:616229
Camurati-Engelmann Disease
Delayed puberty, Delayed eruption of teeth, Hyperostosis, Limitation of joint mobility, Cortical ... ORPHA:1328
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syn... OMIM:614800
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormality of the dentition, To... ORPHA:3224
Jacobsen Syndrome
Intestinal malrotation, Aortic valve stenosis, Abnormality of the anus, Long philtrum, Hip disloc... ORPHA:2308
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Short lingual frenulum, High palate, Wide mouth, Craniosynostosis, Supernumerary nipple ORPHA:1521
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Thin vermilion border, Long philtrum, Conical incisor, Maxillary lateral incisor micr... ORPHA:73223
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Microphthalmia, Clinodactyly of the 5th finger, Generalized hypopi... OMIM:617306
Cole-Carpenter Syndrome 2
Hydrocephalus, Narrow iliac wing, Thin ribs, Pectus excavatum OMIM:616294
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Atrial flutter, Wolff-Parkinson-White syndrome, Cardio... ORPHA:137675
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Radio-Renal Syndrome
Hypoplasia of the radius, Chylothorax, Pleural effusion, Abnormal rib morphology, Micromelia, Sho... ORPHA:3015
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Multiple carpal ossification centers, Fixed elbow flexion, Generalized bone demineralization, Wid... OMIM:143095
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Narrow palate, Abnormal hip bone morphology, Finger syndactyly, Narrow mouth, Synostosis of carpa... ORPHA:1323
Juvenile Sialidosis Type 2
Gingival overgrowth, Low-set ears, Protruding tongue, Hearing impairment, Umbilical hernia ORPHA:93399
Microhydranencephaly
Ventriculomegaly, Talipes equinovarus, Hydranencephaly OMIM:605013
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin vermilion border, 2-3 toe cutaneous syndactyly, Anal stenosis, Prolonged QT interval, Optic ... OMIM:620029
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Hearing impairment, Gingival overgrowth, Delayed eruption of teeth ORPHA:508542
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Clinodactyly of the 5th finger, Gastroesophageal reflux, Acromesomelia, Ventricular ... ORPHA:464306
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
Werner Syndrome
Lipoatrophy, Rocker bottom foot, Gastrointestinal carcinoma, Neoplasm of the small intestine, Neo... ORPHA:902
Larsen Syndrome
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Cl... ORPHA:503
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Microphthalmia OMIM:610756
Khan-Khan-Katsanis Syndrome
Patent foramen ovale, Bilateral superior vena cava with no bridging vein, Corneal scarring, Posta... OMIM:618460
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Non-midline cleft of the upper lip, Split hand, Cleft palate, Toe syndactyly, ... ORPHA:1300
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Intestinal perforation, H... OMIM:147060
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the brainstem, Hypopigmentation of the skin, Camptodactyly, Slender... OMIM:251300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Abnormal diaphysis morphology, Overtubulated long bones, Broad f... ORPHA:85184
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Furrowed tongue ORPHA:2483
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly, Pigmentary retinopathy OMIM:605231
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Sensorineural hearing impairment, Absent brainstem auditory responses, Fl... ORPHA:101085
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Intestinal pseudo-obstruction, Finger syndactyly, Arachnodactyly, Short palm, Long philtrum, Toe ... ORPHA:73246
Combined Oxidative Phosphorylation Deficiency 25
Pectus carinatum, Aspiration pneumonia, Syndactyly, Intraventricular hemorrhage, Ventriculomegaly OMIM:616430
Lymphangiectasia, Intestinal
Prominent floating ribs, Intestinal lymphangiectasia OMIM:152800
Costello Syndrome
Narrow palate, Gastroesophageal reflux, Abnormal dental enamel morphology, Ventricular septal def... ORPHA:3071
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Deep palmar crease, Short metacarpal, Mild fetal ventriculomega... OMIM:617190
Ring Chromosome 12 Syndrome
High, narrow palate, Abnormal 5th finger morphology, Symphalangism of the thumb, Secundum atrial ... ORPHA:1439
Wiedemann-Rautenstrauch Syndrome
Small earlobe, Hypoplastic facial bones, Long philtrum, Increased serum testosterone level, Hydro... OMIM:264090
Arboleda-Tham Syndrome
Chronic otitis media, Small earlobe, Underdeveloped tragus, Intestinal malrotation, Wide mouth, C... OMIM:616268
X-Linked Hypophosphatemia
Genu valgum, Enlargement of the costochondral junction, Bowing of the long bones, Flared iliac wi... ORPHA:89936
Hartnup Disease
Glossitis, Gingivitis ORPHA:2116
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology, Abnormal limb bone morphology OMIM:118100
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Macrodactyly, Varicose veins, Venous malformation OMIM:613089
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Calcaneovalgus deformity, Camptodactyly, Pectus excavatum, Metatarsus add... OMIM:612513
Cutis Laxa, Autosomal Dominant 1
Emphysema, Inguinal hernia, Uterine prolapse, Bronchiectasis, Ventricular septal defect, Peripher... OMIM:123700
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Clinodactyly of the 5th finger, Hypopigm... ORPHA:999
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Abnormal rib morphology ORPHA:2234
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Tyshchenko Syndrome
Narrow palate, High, narrow palate, High palate, Pulmonic stenosis, Cleft palate, Atrial septal d... OMIM:615102
Fanconi Anemia, Complementation Group S
Clinodactyly, Microphthalmia, Proximal placement of thumb OMIM:617883
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis, Coxa valga, Genu valgum, Genu varum OMIM:613312
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla ORPHA:2975
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Clinodactyly, Hypertension, Syndactyly ORPHA:2169
Stolerman Neurodevelopmental Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Bifid uvula, Wide mouth, Thick verm... OMIM:618505
Giant Cell Arteritis
Diabetes insipidus, Glossitis, Arthritis, Vertigo, Joint stiffness, Hearing impairment, Conductiv... ORPHA:397
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Ventriculomegaly, C... ORPHA:363444
Toriello-Carey Syndrome
Aganglionic megacolon, High palate, Cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Clef... ORPHA:3338
Duane Retraction Syndrome
Aniridia, Spina bifida occulta, Optic disc hypoplasia, Sensorineural hearing impairment, Abnormal... ORPHA:233
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Abnormal heart morphology, Ventricular septal defect, Hip dysplasia ORPHA:494344
Omodysplasia 1
Limited elbow extension, Fibular hypoplasia, Limited elbow flexion/extension, Rhizomelia, Increas... OMIM:258315
X-Linked Cerebral Adrenoleukodystrophy
Abnormal brainstem white matter morphology, Abnormal spinal cord morphology, Myelopathy ORPHA:139396
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma... ORPHA:158668
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Congenital hip dislocation OMIM:616355
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia OMIM:618805
Charcot-Marie-Tooth Disease Type 4B2
Buphthalmos, Sensorineural hearing impairment, Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Coffin-Siris Syndrome 12
Protruding ear, Sensorineural hearing impairment, High palate, Low-set ears, Celiac disease, Prom... OMIM:619325
Culler-Jones Syndrome
Postaxial polydactyly, Cleft upper lip, Cleft palate OMIM:615849
Ane Syndrome
Ulnar deviation of the hand, Hyperpigmentation of the skin, Motor neuron atrophy, Hyperpigmented ... ORPHA:157954
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Abnormal sternum morphology, Tapered finger, Camptodactyly, Pulmonic... OMIM:616737
16P13.11 Microdeletion Syndrome
Pectus excavatum, Camptodactyly of finger, Holoprosencephaly, Metatarsus valgus, Ventriculomegaly... ORPHA:261236
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Increased arm span, Thin metacarpal cortices, Slender long bone, Thin metatarsal cortices, Thin r... ORPHA:2463
Bardet-Biedl Syndrome 20
Pancreatitis, Elevated circulating hepatic transaminase concentration, 2-3 toe syndactyly, Postax... OMIM:619471
Diamond-Blackfan Anemia
Cleft soft palate, Microtia, High palate, Low-set ears, Adenocarcinoma of the colon, Micrognathia... ORPHA:124
Monosomy 13Q34
Postaxial hand polydactyly, Pulmonic stenosis, Common atrium, Hematochezia, Hepatic steatosis, Po... ORPHA:96168
Sclerosteosis 1
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense lo... OMIM:269500
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Th... ORPHA:488434
Brittle Cornea Syndrome
Corneal scarring, Camptodactyly, Pulmonic stenosis, Arachnodactyly, Cleft palate, Mitral valve pr... ORPHA:90354
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis OMIM:175500
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Bilateral Perisylvian Polymicrogyria
Protruding tongue, Hearing impairment, Micrognathia, Flexion contracture, Distal arthrogryposis, ... ORPHA:98889
Sponastrime Dysplasia
Limited elbow extension, Delayed epiphyseal ossification, Obtuse angle of mandible, Mandibular pr... ORPHA:93357
Alg12-Cdg
Muscular ventricular septal defect, Clinodactyly of the 5th finger, Recurrent pharyngitis, Proxim... ORPHA:79324
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Macrodactyly, Foot polydactyly, 2-4 toe syndactyly, Abnormal venous morphology, Abno... ORPHA:276280
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormality of mouth shape, Low-set ears, Abnormal intramembranous oss... ORPHA:3003
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Dental crowding, Sensorineural hearing impairment, Bifid uvula, Lateral ventricle... ORPHA:261537
Atelis Syndrome 2
Microphthalmia, Gastroesophageal reflux, Single transverse palmar crease, High palate, Supravalva... OMIM:620185
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Ventricular septal defect, Hypoplasia of the brainstem, Optic disc hypop... OMIM:619306
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Bowing of the long bones, Umbilical hernia OMIM:617952
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Oligohydramnios OMIM:615824
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly OMIM:620156
Fanconi Anemia, Complementation Group W
Hypoplasia of the radius, Ventriculomegaly, Abnormal radial ray morphology, Absent thumb OMIM:617784
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Cleft palate, Glossitis ORPHA:79284
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Thickened ribs, Umbi... OMIM:252900
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Posterolateral diaphragmatic hernia OMIM:194080
2P15P16.1 Microdeletion Syndrome
Bilateral single transverse palmar creases, Sandal gap, Optic nerve hypoplasia, Enlarged thorax, ... ORPHA:261349
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Leopard Syndrome 1
Limited elbow movement, Cubitus valgus, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic s... OMIM:151100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
High palate, Syndactyly, Umbilical hernia OMIM:614520
Prader-Willi Syndrome
Acromicria, Genu valgum, Radial deviation of finger, Polyhydramnios, Short foot, Narrow palm, Car... OMIM:176270
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Hypoplasia of the radius, Clinodactyly of the 5th finger, Anal atresia, Pulmonary artery stenosis... ORPHA:140952
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration OMIM:258700
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal aortic valve morphology, Genu valgum, Hydrocephalus, Aspir... ORPHA:581
Angelman Syndrome
Widely spaced teeth, Precocious puberty in females, Mandibular prognathia, Delayed menarche, Prot... ORPHA:72
Mowat-Wilson Syndrome
Microphthalmia, Dental crowding, Sensorineural hearing impairment, Everted lower lip vermilion, B... ORPHA:2152
Galloway-Mowat Syndrome 3
Microphthalmia, Camptodactyly, Arachnodactyly, Edema, Oligohydramnios, Hip dislocation OMIM:617729
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Lacrimoauriculodentodigital Syndrome
Corneal neovascularization, Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hyp... ORPHA:2363
Spondylocostal Dysostosis 1, Autosomal Recessive
Recurrent respiratory infections, Rib fusion OMIM:277300
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Ventricular septal defect, Hepatic failure, Pulmo... OMIM:222470
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Talipes equinovarus, Ventri... OMIM:269150
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Microphthalmia, Hyperpigmentation of the skin, Cafe-au-lait spot, Absen... OMIM:610832
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Peters Plus Syndrome
Rhizomelia, Clinodactyly of the 5th finger, Inguinal hernia, Abnormal pulmonary vein morphology, ... ORPHA:709
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Dilation of Virchow-Robin spaces, Clinodactyly of the 5th finger, Dilated third vent... ORPHA:544488
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Ventriculomeg... OMIM:615219
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Glucagonoma
Intestinal obstruction, Steatorrhea, Increased circulating gonadotropin level, Neoplasm of the pa... ORPHA:97280
Fanconi Anemia, Complementation Group E
Microphthalmia, Hyperpigmentation of the skin, Cafe-au-lait spot, Complete duplication of thumb p... OMIM:600901
Alagille Syndrome 1
Hypoplasia of the ulna, Cirrhosis, Elevated circulating hepatic transaminase concentration, Strok... OMIM:118450
Osteogenesis Imperfecta, Type Iii
Thin ribs, Protrusio acetabuli, Tibial bowing, Slender long bone OMIM:259420
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Narrow chest, Abnormally large globe, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Pu... ORPHA:1655
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Polyhydramnios, Clinodactyly of the 5th finger, Abnormality of the upper limb, As... ORPHA:1052
Milroy Disease
Cellulitis, Varicose veins, Abnormal venous morphology ORPHA:79452
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly OMIM:618087
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... OMIM:304120
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Abnormal brainstem MRI signal intensity, Cerebral edema, Myelitis ORPHA:83597
Acrodermatitis Enteropathica
Glossitis, Cheilitis, Furrowed tongue, Abnormality of the tongue ORPHA:37
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Elbow flexion contracture, Bilateral talipes equinovarus, Decreased palmar creases, Hypoplasia of... OMIM:612394
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno... ORPHA:2396
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Aganglionic megacolon, Ganglioneuromatosis, Abnor... ORPHA:653
Grange Syndrome
Coronary artery stenosis, Renovascular hypertension, Syndactyly, Brachydactyly, Bicuspid aortic v... OMIM:602531
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Synostosis ... ORPHA:1005
Chromosome 1P36 Deletion Syndrome, Distal
Sensorineural hearing impairment, Microtia, Bifid uvula, Lateral ventricle dilatation, Abnormalit... OMIM:607872
Pitt-Hopkins Syndrome
Single transverse palmar crease, Short fifth metatarsal, Clubbing, Prominent fingertip pads, Tape... OMIM:610954
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Clinodactyly of the 5th finger, Pectus excavatum, Bilateral talipes equinovarus, Broad thumb, Bro... OMIM:620224
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Protruding tongue, Flexion contracture, Open mouth, M... ORPHA:258
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Neurocutaneous Melanocytosis
Ventriculomegaly, Dandy-Walker malformation, Intracranial hemorrhage, Meningocele ORPHA:2481
Eec Syndrome
Orofacial cleft, Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly,... ORPHA:1896
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Ventriculomegaly, Protruding tongue OMIM:619580
Fanconi Anemia, Complementation Group A
Microphthalmia, Cafe-au-lait spot, Abnormality of skin pigmentation, Complete duplication of thum... OMIM:227650
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Cleft lip, Notched primary central incisor OMIM:620519
Distal Deletion 6P
Clinodactyly of the 5th finger, Hypoplasia of the iris, Short palm, Abnormal epiphysis morphology... ORPHA:96125
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Thickened ribs, Recurrent upper respiratory tract in... OMIM:252920
Alstrom Syndrome
Polydactyly, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic activ... OMIM:203800
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Joint contracture of the 5th finger, Single transverse palmar crease, 2-3 toe syn... OMIM:620098
Noonan Syndrome
Hepatomegaly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the abdominal wall musculatur... ORPHA:648
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Narrow chest, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Pulmonary lymphangiectasia... OMIM:235255
47,Xyy Syndrome
Azoospermia, Hydrocephalus, Abnormal brainstem morphology, Oligozoospermia, Finger clinodactyly ORPHA:8
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Arteria lusoria, Clinodactyly of the 2nd finger, Broad middle phalanx of finger, Clinodactyly of ... ORPHA:221139
Cutis Marmorata Telangiectatica Congenita
Orofacial cleft, Finger syndactyly, Abnormality of the upper limb, Ascites, Short lower limbs, Te... ORPHA:1556
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Colorectal polyposis, Bone cyst, High palate, Fu... ORPHA:201
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Dental crowding, Sensorineural hearing impairment, Abnormal jaw morphology, Bifid... ORPHA:261552
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Wolf-Hirschhorn Syndrome
Craniofacial asymmetry, Ventriculomegaly, Hip dislocation, Hydrocephalus, Radioulnar synostosis, ... OMIM:194190
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal fibula morphology, Sandal gap, Hydrocephalus, Pectus excavatum, Ventriculomegaly ORPHA:1812
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Clinodactyly of the 5th finger, High palate, Short foot, Camptodactyly, Metatarsus... OMIM:227330
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Short palm, Ventriculomegaly, Short foot, Small hand OMIM:241410
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Eosinophilic infiltration of the esophagus, Pulmoni... OMIM:615508
Generalized Pustular Psoriasis
Arthritis, Cheilitis, Geographic tongue ORPHA:247353
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Olig... OMIM:148050
Vascular Ehlers-Danlos Syndrome
Vertigo, Abnormal intestine morphology, Microdontia, Abnormal oral frenulum morphology, Umbilical... ORPHA:286
Semilobar Holoprosencephaly
Cyclopia, Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High pala... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High pala... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High pala... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Neural tube defect, Solitary median maxillary central incisor, Hydrocephalus, High pala... ORPHA:93924
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Multiple rib fr... OMIM:612301
Noonan Syndrome 14
Limited elbow extension, High, narrow palate, Deep palmar crease, Cubitus valgus, Scapular wingin... OMIM:619745
Mosaic Trisomy 8
Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Abnormal rib morphology, Campto... ORPHA:96061
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Broad alveolar ridges, Cardiomyopathy, Flat acetabula... OMIM:216340
Ohdo Syndrome, X-Linked
Microphthalmia, Cafe-au-lait spot, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overl... OMIM:300895
Cockayne Syndrome
Delayed puberty, Microphthalmia, Progressive sensorineural hearing impairment, Congenital contrac... ORPHA:191
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Thick lower lip vermilion, Mesiodens, Narrow mouth, Short ear, Long philtrum ORPHA:314647
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Xerostomia ORPHA:803
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity, Cerebral edema ORPHA:88619
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Sensorineural hearing impairment, Microtia, Hypoplastic philtrum, Wide mouth, Hypogonadism, Poste... OMIM:309580
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Hyperextensibility of the finger joints, Pectus carinatum, Single transverse ... ORPHA:521426
Joubert Syndrome 5
Occipital encephalocele OMIM:610188
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly OMIM:225790
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
3Q29 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Tapered finger, Abnormality of skin pigmentation,... ORPHA:65286
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Long philtrum, Overlapping toe, Tooth malposition, Abnormality of the dentition, ... ORPHA:480880
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth OMIM:617799
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Recurrent respiratory infections, Tapered finger ORPHA:2836
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Optic nerve hypoplasia, Colpocephaly, Hip dysplasia, Ventriculomegal... ORPHA:261250
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Microphthalmia, Abnormal heart morphology OMIM:618571
Popliteal Pterygium Syndrome
Spina bifida occulta, Cleft upper lip, Cutaneous finger syndactyly, Bifid uvula, Cleft palate, Fi... OMIM:119500
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... OMIM:150400
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Clubbing of fingers, Right ventricular dilatation, Right atrial enlargem... ORPHA:99106
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Crumpled long bones, Narrow chest, Hypoplastic pulmonary veins, Femoral retroversion,... OMIM:610682
Desmosterolosis
Rhizomelia, Hydrocephalus, Total anomalous pulmonary venous return, Bilateral talipes equinovarus... OMIM:602398
Fraser Syndrome 3
Hydrocephalus, Ascites, Nonimmune hydrops fetalis, Short toe, Cutaneous syndactyly, Oligohydramnios OMIM:617667
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Pectus carinatum, Sing... OMIM:303600
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Protruding ear, Recurrent otitis media, Chronic gastritis, Mandibular prognathia, Low... OMIM:150230
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Palpebral edema, Clinodactyly of the 5th finger, Finger syndactyly, 2-3... OMIM:181270
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Broad hallux, Broad thumb OMIM:272200
Cerebrofaciothoracic Dysplasia
Narrow chest, Rib fusion, Sprengel anomaly, Bifid ribs, Ventriculomegaly ORPHA:1394
Sanjad-Sakati Syndrome
Aplasia/Hypoplasia affecting the eye, Ventriculomegaly, Recurrent respiratory infections, Short f... ORPHA:2323
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Abnormal brainstem morphology, Elongated superior cerebellar peduncle ORPHA:370022
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Hand clenching, Overlapping toe, Ventriculomegaly, Ta... OMIM:617301
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Short palm, Broad thumb, Umbilical hernia, Bicuspid aortic valve, Ventricu... OMIM:614501
Mosaic Trisomy 20
Hypopigmented streaks, Abnormal mitral valve morphology, Abnormal spinal cord morphology, Limited... ORPHA:1724
Gangliocytoma
Spinal cord tumor, Syringomyelia, Abnormal brainstem morphology ORPHA:251937
Warburg Micro Syndrome 2
Clinodactyly of the 5th toe, Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe OMIM:614225
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Optic disc hypoplasia, Abnormal cardiac septum morphology ORPHA:238769
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asymmetry, Talipe... ORPHA:35173
Monosomy 13Q14
Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyl... ORPHA:1587
Monosomy 22
Thin vermilion border, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palma... ORPHA:96123
Alpha-Thalassemia
Cholelithiasis, Malar prominence, Hyperplasia of the maxilla ORPHA:846
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:467166
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xeros... OMIM:149730
Short Stature With Microcephaly And Distinctive Facies
Proximal placement of thumb, Syndactyly, Brachydactyly, Short distal phalanx of finger, Short dig... OMIM:615789
Jacobsen Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Holoprosencephaly, Brachydactyly, ... OMIM:147791
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Cochlear degeneration, Tinnitus, Vertigo OMIM:601369
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Narrow chest, Short clavicles, Pectus carinatum, Broad clav... OMIM:304150
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Slender long bone, Femoral retroversion, Thin ribs, Tibial bowing, Femoral b... OMIM:610915
Townes-Brocks Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Abnormal rib mor... ORPHA:857
X-Linked Lissencephaly With Abnormal Genitalia
Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:452
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging OMIM:614298
Autosomal Dominant Cutis Laxa
Emphysema, Inguinal hernia, Aortic aneurysm, Bronchiolitis, Coarctation of aorta, Dilatation of t... ORPHA:90348
Fanconi Anemia, Complementation Group C
Microphthalmia, Hyperpigmentation of the skin, Cafe-au-lait spot, Complete duplication of thumb p... OMIM:227645
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Melena, Pulmonic stenosis, Aortic valve stenosis, Intracranial hemor... ORPHA:99147
Tbck-Related Intellectual Disability Syndrome
Broad finger, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Pectus excavatum, Pulmonic stenosi... ORPHA:488632
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Proximal placement of thumb, Dandy-Walker malformation, Abnormal sternum morphology, Tapered fing... ORPHA:487796
Costello Syndrome
Pneumothorax, Limited elbow movement, Rhabdomyosarcoma, Lymphangiectasis, Deep palmar crease, Tra... OMIM:218040
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Abnormal bronchus morphology, Tricuspid ... ORPHA:100078
Mucoepithelial Dysplasia, Hereditary
Hearing impairment, Furrowed tongue, Erythematous oral mucosa OMIM:158310
Vitreoretinochoroidopathy
Microphthalmia, Pigmentary retinopathy OMIM:193220
Warburg Micro Syndrome 3
Microphthalmia, Clinodactyly of the 5th finger OMIM:614222
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, Bell-shaped thorax, Single transverse palmar crease, Congenital h... OMIM:244450
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic sten... OMIM:618223
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Autosomal Recessive Faciodigitogenital Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Open bite, High palate, Everted lower lip verm... ORPHA:1974
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Idiopathic Camptocormia
Syringomyelia, Amyotrophic lateral sclerosis, Myelitis, Abnormal pons morphology ORPHA:1320
Carney Complex
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor... ORPHA:1359
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly, Microphthalmia, Buphthalmos OMIM:616538
Agel Amyloidosis
Hearing impairment, Xerostomia, Tongue atrophy ORPHA:85448
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Delayed puberty, Submucous cleft hard palate, Type II diabetes mellitus, Flexion contracture OMIM:618891
Bardet-Biedl Syndrome 12
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615989
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen o... OMIM:613884
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Short finger, Clinodactyly of the 5th finger, Inguinal hernia, Lipoma, Lower-limb joint contractu... ORPHA:459070
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, High palate, Hypertrophic cardiomyopathy, Pulmoni... OMIM:609942
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proportionate shortening of all digits, Flexion contracture of toe, Narrow chest, Aortic root ane... ORPHA:280633
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Ventriculomegaly, Short foot, Small hand OMIM:617903
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Slender long bone ORPHA:96181
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Short sternum, Ventriculomegaly, Atr... OMIM:257300
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Hydrocephalus, Glossitis, Low-set ears, Smooth philtrum ORPHA:79282
Charcot-Marie-Tooth Disease Type 4C
Sensorineural hearing impairment, Tongue fasciculations, Difficulty in tongue movements, Tongue a... ORPHA:99949
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Thickened ribs, Recurrent upper respiratory tract infections OMIM:252930
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Dilatation of celiac a... OMIM:610655
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Limited elbow movement, Thin ribs, Osteolytic defects of the distal phal... OMIM:614008
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Alpha-Mannosidosis, Infantile Form
Genu valgum, Pectus carinatum, Bilateral coxa valga, Pectus excavatum, Communicating hydrocephalu... ORPHA:309282
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Gastrointestinal hemorrhage, Dilatation of celiac artery, Art... OMIM:187300
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly, Abnormal neuron morphology ORPHA:163681
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir... OMIM:611584
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Congenital Disorder Of Deglycosylation 2
Sandal gap, Bilateral talipes equinovarus, Broad thumb, Ulnar deviation of the hand, Ventriculome... OMIM:619775
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Abnormal heart... OMIM:218600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of tibia, Ventriculomegaly, Subar... ORPHA:99646
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... ORPHA:52368
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Atelectasis OMIM:300219
Kapur-Toriello Syndrome
Microphthalmia, Ventricular septal defect, Tetralogy of Fallot ORPHA:2328
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Intraventricular hemorrhage, Ventriculomegaly, Tapered finger, Talipes equinovarus OMIM:613603
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Genu valgum, Talipes equinovarus, Broad long bone diaphyses, Broad metac... OMIM:301066
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Ectopic anterior pituitary gland, Coarse metaphyseal trabeculariz... OMIM:620558
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Asymmetric septal hypertrophy, Epiphyseal dysplasia, Hip dysplasia, Br... OMIM:252940
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Alobar holoprosence... OMIM:619895
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Abnormal mitral valve morphology, Finger syndactyly, Genu varum ORPHA:1969
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal brainstem morphology, Buphthalmos, Abnormal pons morphology ORPHA:370997
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Joint contracture of the hand, Congenital finger flexion contractures, Hearing impairment, Flexio... ORPHA:466768
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Coccidioidomycosis
Abnormal long bone morphology, Abnormal metacarpal morphology, Hydrocephalus, Vasculitis, Pleural... ORPHA:228123
Fraser Syndrome 2
Microphthalmia, Rectal atresia, Narrow mouth, Anal atresia, Intestinal malrotation, Cutaneous syn... OMIM:617666
Bardet-Biedl Syndrome
Long philtrum, Aganglionic megacolon, Abnormal oral cavity morphology, Hypodontia, Dental crowdin... ORPHA:110
Noonan Syndrome 1
High, narrow palate, Radial deviation of finger, Cubitus valgus, Chylothorax, High palate, Hypert... OMIM:163950
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Abnormal palmar dermatoglyphics, Microphthalmia ORPHA:2728
Micro Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:2510
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... OMIM:610442
Sotos Syndrome
Chronic otitis media, Ankle flexion contracture, Aganglionic megacolon, Delayed eruption of perma... ORPHA:821
Vocal Cord And Pharyngeal Distal Myopathy
Distal upper limb amyotrophy, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness ORPHA:600
Pachyonychia Congenita 3
Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia OMIM:615726
Koolen-De Vries Syndrome Due To A Point Mutation
Atrial septal defect, Aortic aneurysm, Hydrocephalus, Ventriculomegaly, Pectus carinatum, Promine... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Atrial septal defect, Aortic aneurysm, Hydrocephalus, Ventriculomegaly, Pectus carinatum, Promine... ORPHA:363958
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Mitral stenosis, Colpocephaly, Patent ductus arteriosus, Ventriculomegaly, ... OMIM:617260
1P36 Deletion Syndrome
Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Ventriculomegaly, Abnormal heart va... ORPHA:1606
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Short foot, Pectus excavatum, Aortic valve stenosis, Flexion contracture of finger, Short toe, Pa... ORPHA:464311
Distal Deletion 3P
Atrioventricular canal defect, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Umbili... ORPHA:1620
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Microphthalmia OMIM:156610
Microsporidiosis
Adrenocortical abnormality, Glossitis, Thyroiditis, Sinusitis, Abnormality of the parathyroid gla... ORPHA:2552
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Flaring of rib cage, Broad ribs, Pulmonary fibrosis OMIM:612852
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
Lethal Congenital Contracture Syndrome 5
Thin ribs, Subdural hemorrhage OMIM:615368
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Recurrent upper respiratory tract inf... OMIM:217090
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly, Single transverse palmar crease, Prominent fingertip pads, Short palm, Brachyd... ORPHA:466950
Wilson Disease
Edema, Face of the giant panda sign, Ascites, Pedal edema OMIM:277900
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Adrenomyeloneuropathy
Lip hyperpigmentation, Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal co... ORPHA:139399
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Thin ribs ORPHA:169189
Mandibuloacral Dysplasia Progeroid Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Deep palmar crease, Sandal gap, Pal... OMIM:619127
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Retinitis Pigmentosa 74
Polydactyly, Pigmentary retinopathy OMIM:616562
Adult Syndrome
Finger syndactyly, Abnormality of the dentition, Abnormal dental morphology, Split foot, Toe synd... ORPHA:978
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Microphthalmia ORPHA:1806
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Thickened ribs, Cherry red spot of ... OMIM:230500
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Freckling, Pigmentary retinopathy OMIM:610651
Papillorenal Syndrome
Edema, Microphthalmia OMIM:120330
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Sensorineural he... ORPHA:1435
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, 3-4 fi... OMIM:619727
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia, 4-5 finger syndactyly, Hypoplasia of the pons, ... ORPHA:468631
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept... OMIM:619268
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol... OMIM:609049
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnormal dental enamel morphol... ORPHA:2908
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Pectus excavatum, Short palm,... OMIM:616734
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Cubitus valgus, Upper limb undergrowth, Broad thumb, Pulmonic stenosis,... ORPHA:529962
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Neurooculorenal Syndrome
Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Short hallux, Hyd... OMIM:620305
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Short distal phalanx of finger OMIM:201180
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Kagami-Ogata Syndrome
Large placenta, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia, Coxa valga ORPHA:254519
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Abnormal pulmonary interstitial morphology, Hydrocephalus, Bacterial ... ORPHA:2072
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Rodrigues Blindness
Microphthalmia OMIM:268320
Ring Chromosome 7 Syndrome
Situs inversus totalis, Genu valgum, Clinodactyly of the 5th finger, Single transverse palmar cre... ORPHA:1449
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Syndactyly OMIM:224120
Mucopolysaccharidosis Type 2, Severe Form
Diaphyseal undertubulation, Abnormal tricuspid valve morphology, Abnormal heart valve morphology,... ORPHA:217085
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Brachydactyly, Abnormal midbrain morphology ORPHA:293987
Friedreich Ataxia 2
Hammertoe, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormal... OMIM:601992
Williams-Beuren Syndrome
Pulmonic stenosis, Mitral valve prolapse, Umbilical hernia, Bicuspid aortic valve, Inguinal herni... OMIM:194050
Mucopolysaccharidosis Type 2, Attenuated Form
Diaphyseal undertubulation, Abnormal tricuspid valve morphology, Abnormal heart valve morphology,... ORPHA:217093
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Talipes equinovarus OMIM:601374
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Freckling OMIM:601675
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Joubert Syndrome 38
Molar tooth sign on MRI OMIM:619476
Kawasaki Disease
Cheilitis, Glossitis, Arthritis, Strawberry tongue, Lip fissure ORPHA:2331
Microphthalmia/Coloboma 12
Ventriculomegaly, Microphthalmia, Optic nerve aplasia OMIM:120200
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Traboulsi Syndrome
Short finger, Microphthalmia, Cubitus valgus, Arachnodactyly, Broad hallux OMIM:601552
Hyperlysinemia
Gastroesophageal reflux, High palate, Pulmonary artery hypoplasia, Recurrent pneumonia, Dysphagia ORPHA:2203
Trichothiodystrophy
Numerous pigmented freckles, Bilateral microphthalmos, Clubbing, Cardiomyopathy, Umbilical hernia... ORPHA:33364
Superficial Siderosis
Abnormal spinal cord morphology, Atrophy of the spinal cord, Atrophy/Degeneration affecting the b... ORPHA:247245
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Patent foramen ovale, Hip dysplasia, Atrial septal defect, Tapered finger, Small ... OMIM:620005
Norrie Disease
Delayed puberty, Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Sensorine... ORPHA:649
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Abnormal heart morphology, Tetralog... ORPHA:42775
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pneumothorax, Tricuspid valve prolapse, Ventriculomegaly, Pectus excavatum, Arachnodactyly, Mitra... OMIM:601776
Cog1-Cdg
Rhizomelia, Talipes equinovarus, Short long bone, Posterior rib gap, Flat acetabular roof, Atrial... ORPHA:263508
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short foot, Small hand ORPHA:2714
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Diaphyseal dysplasia, Stroke, Renal artery stenosis, Gastrointestinal stroma tu... ORPHA:97685
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Patent foramen ovale, Anomalous origin of left subclavian artery, Aspira... ORPHA:438213
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Optic nerve hypoplasia, High palate, Cutaneous syndactyly, Toe clinodactyly, Long fin... OMIM:620330
Proteus Syndrome
Macrodactyly, Abnormality of the wrist, Sirenomelia, Clinodactyly of the 5th finger, Abnormal met... ORPHA:744
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Recurrent pneumonia, ... OMIM:225400
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Renpenning Syndrome 1
Situs inversus totalis, Microphthalmia, Clinodactyly of the 5th finger, Camptodactyly, Synostosis... OMIM:309500
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Cochlear degeneration ORPHA:95433
Choreoacanthocytosis
Arthritis, Temporomandibular joint crepitus, Lateral ventricle dilatation, Protruding tongue ORPHA:2388
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Phace Association
Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect OMIM:606519
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Tibial bowing, Metaphyseal widening, Phthisis bulbi, Ventricular septal defect OMIM:259770
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Microphthalmia, Abnormality of the medullary cavity of the long b... OMIM:127000
Linear Nevus Sebaceus Syndrome
Irregular hyperpigmentation, Microphthalmia, Melanocytic nevus ORPHA:2612
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Holoprosencephaly, Syndactyly, Long philtrum, Jejunal atresia OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microphthalmia, Hydrocephalus, Hypoplasia of the retina, Buphthalmos, Hypoplasia of the brainstem OMIM:253280
Plague
Glossitis, Arthritis, Hearing impairment, Enterocolitis, Inflammation of the large intestine, Ile... ORPHA:707
Hydranencephaly
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... ORPHA:2177
Pontine Tegmental Cap Dysplasia
Rib fusion OMIM:614688
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Cockayne Syndrome Type 3
Premature graying of hair, Microphthalmia, Cardiomyopathy ORPHA:90324
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Abnormal brainstem morphology OMIM:301310
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Joint contracture of the hand, Genu valgum, Microphthalmia, Camptodactyly of fing... OMIM:309000
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Vitiligo, Xerostomia ORPHA:289390
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology ORPHA:93256
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Microphthalmia, Hypoplasia of the iris OMIM:175780

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 Fuz

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 Fuz.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fuzem1(IMPC)Mbp Exon Deletion Mice, Tissue
Fuztm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fuztm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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