Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Abnormal lung morphology, Abnormal thorax morphology, Cleft palate, U... |
ORPHA:294975 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Polyhydramnios, Abnormal lung lobati... |
OMIM:265380 |
Ritscher-Schinzel Syndrome 2 |
|
Pulmonary artery hypoplasia, High palate, Short philtrum, Atrial septal defect, Clinodactyly of t... |
OMIM:300963 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Pulmonary valve atresia, Hemivertebrae, Orofacial cleft, Atrial se... |
ORPHA:97360 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte... |
ORPHA:401935 |
Verheij Syndrome |
|
Branchial cyst, Short neck, Hemivertebrae, Renal cyst, Vertebral fusion, Anteverted nares, Short ... |
OMIM:615583 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Micrognathia, Underdeveloped nasal alae, High, narrow ... |
ORPHA:2516 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ... |
OMIM:609029 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common... |
OMIM:619143 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Beaded ribs, Cardiomegaly, Micrognathia, Short neck, Hydrops fetalis, Micropenis,... |
OMIM:616897 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ... |
ORPHA:96170 |
Ellis-Van Creveld Syndrome |
|
Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Atrial septal defect, Neonata... |
OMIM:225500 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Depressed nasal bridge, Missing ribs, Microgn... |
OMIM:220210 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... |
OMIM:231060 |
Trisomy 13 |
|
High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Narrow chest, Atrial septal defect,... |
ORPHA:3378 |
Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ... |
OMIM:179613 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Bilateral cryptorchidism, Pulmonary artery hypoplasia, Micropenis, Short ... |
ORPHA:2326 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven... |
OMIM:618142 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short stature, Metatars... |
ORPHA:1388 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Chiari type I malformation, Short philtrum, Gastroesophag... |
OMIM:618316 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft u... |
OMIM:264480 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Paten... |
OMIM:612938 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteri... |
OMIM:306955 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Complete atrioventricula... |
OMIM:619142 |
Chime Syndrome |
|
Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnor... |
ORPHA:3474 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Long nose, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality ... |
ORPHA:363444 |
Van Esch-O'Driscoll Syndrome |
|
Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, Spina bifida o... |
OMIM:301030 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic ... |
OMIM:263520 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Cardiomegaly, Micrognathia, Fetal akinesia sequence, Short neck, Hydrops feta... |
OMIM:617022 |
Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Hydrops f... |
OMIM:253250 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial ... |
ORPHA:261330 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Heart block, Anteriorly placed anus, Chiari type I malfor... |
OMIM:617063 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Finger syndactyly, ... |
ORPHA:254346 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Polyhydramnios, Short neck, Abnormal lung lobation... |
ORPHA:99776 |
Down Syndrome |
|
Prenatal double bubble sign, Single transverse palmar crease, Hypoplastic iliac wing, Atrial sept... |
OMIM:190685 |
Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Microretrognathia, Multicystic kidney dysplasia, Arachnodactyly,... |
ORPHA:261344 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Anteverted nare... |
OMIM:619343 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Cerebellar vermis hypoplasia, Short stature, Rocker bottom foot, Urinar... |
OMIM:620070 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism,... |
ORPHA:1166 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Posterior scalloping of vertebral bodies, Widely spaced teeth, Broad ribs, Thicke... |
OMIM:619698 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Polyhydramnios... |
ORPHA:1692 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... |
ORPHA:2631 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent... |
ORPHA:324410 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Hamamy Syndrome |
|
Prolonged QRS complex, Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th f... |
OMIM:611174 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hypospadias, Cleft upper lip, Crypt... |
ORPHA:2008 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Sandestig-Stefanova Syndrome |
|
Decreased fetal movement, Rocker bottom foot, Short neck, Muscular ventricular septal defect, Wid... |
OMIM:618804 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, G... |
OMIM:134780 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Micrognathia, Short neck, Abnormal aortic arch morpho... |
ORPHA:2059 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, Hy... |
OMIM:601355 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Microgn... |
OMIM:616531 |
3C Syndrome |
|
Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial clef... |
ORPHA:7 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... |
OMIM:256050 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... |
ORPHA:185 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Mi... |
OMIM:241800 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Sho... |
OMIM:612946 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism,... |
OMIM:615524 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Thora... |
ORPHA:508498 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Short stature, Underdeveloped nasal alae, Cleft palate, Malar flattenin... |
OMIM:611867 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,... |
OMIM:616300 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial... |
ORPHA:476126 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's... |
OMIM:617616 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology... |
ORPHA:1919 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Hydrops fetalis, Narrow chest, Anisospo... |
ORPHA:1865 |
Marden-Walker Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, Zollinger-Ellison syn... |
OMIM:248700 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx... |
OMIM:184260 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,... |
OMIM:614815 |
Tonne-Kalscheuer Syndrome |
|
Micrognathia, Prominent nose, Downturned corners of mouth, Widely spaced teeth, Micropenis, Hypos... |
OMIM:300978 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricu... |
OMIM:614114 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Hydrops fetalis, Renal cyst, Fused teeth, High palate, Narrow... |
OMIM:614091 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndact... |
ORPHA:2886 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Dental crowding, Calcaneovalgus deformity, Absent phalangeal crease, High palate, Atrial septal d... |
ORPHA:230851 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Edema, Cleft upper lip, Micrognathia, Polyhydramni... |
OMIM:312150 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Pol... |
ORPHA:93298 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Esophageal v... |
OMIM:616589 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Sho... |
ORPHA:96129 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short stature, Prominent nose, Short middle phalanx of the 2nd finger, High, na... |
OMIM:617926 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Anteverted nares, ... |
OMIM:608149 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle... |
ORPHA:3434 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Short neck, Lobulated tongue, Thoracic dysplasia, Narr... |
OMIM:269860 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Proximal placement of thumb, Short neck, Short stature, Thoracolumbar kyph... |
OMIM:212066 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Short thumb, P... |
OMIM:612561 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Short stature, Cerebral hemorrhage, Postnatal growth retardation, Abnormal hand morpho... |
OMIM:300845 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, T... |
ORPHA:3080 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Choanal atresia, Unilateral renal agenesis, Cle... |
OMIM:608572 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus... |
ORPHA:98892 |
Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Micrognathia, Abnormal lung lobation, Depressed nasal ridge, Atrial septal defect... |
ORPHA:1052 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Polyhydramnios, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofaci... |
ORPHA:1027 |
Achondrogenesis Type 1A |
|
Short palm, Multiple rib fractures, Thickened nuchal skin fold, Severe short stature, Anteverted ... |
ORPHA:93299 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Narrow chest, Neonatal short-limb short stature, D... |
ORPHA:50945 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of ... |
OMIM:616894 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Hypospadias, Single transve... |
OMIM:610253 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Neon... |
OMIM:601186 |
Infantile Sialic Acid Storage Disease |
|
Anteverted nares, Premature birth, Cardiomegaly, Congestive heart failure, Abnormal thorax morpho... |
OMIM:269920 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Abnormal left ventricular function, Vesicoureteral reflux, Pulmonary artery atres... |
OMIM:301056 |
Mosaic Trisomy 16 |
|
Single transverse palmar crease, Abnormal lung morphology, Anteriorly placed anus, Atrial septal ... |
ORPHA:1708 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le... |
OMIM:236110 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, High palate, Wide... |
OMIM:143095 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Ulnar deviation of the hand, Polyhydramnios, Micrognathia, Underdevel... |
OMIM:263210 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse... |
OMIM:235510 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Micrognathia, Secundum atrial septal defect, Short neck, Gastroesophageal reflux, Short stature, ... |
OMIM:608779 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... |
OMIM:618845 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Bundle branch block, Limited elbow movement, Short neck, Depressed nasal r... |
OMIM:151100 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Antevert... |
OMIM:252500 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Micrognathia, Short neck, Dep... |
OMIM:608022 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Neph... |
OMIM:617402 |
2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, Enlarged thorax, High palate, Bilateral single transverse palmar creases, Multicy... |
ORPHA:261349 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Micrognathia, Pectus carinatum, High palate, Bifid uvula, Telangiectas... |
OMIM:208050 |
Zttk Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, ... |
OMIM:617140 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Proximal placement of thumb, Polyhydramnios, Urethral atresia, Neonatal death, Atrioventricular c... |
OMIM:314390 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, High palate, Gastroesophageal reflux, Atrial septal d... |
OMIM:117550 |
Distal Triplication 15Q |
|
Micrognathia, Abnormal sternum morphology, High palate, Atrial septal defect, Dandy-Walker malfor... |
ORPHA:314588 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased fetal movement, V... |
OMIM:616777 |
Heterotaxy, Visceral, 7, Autosomal |
|
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Polyhydramnios, Prominent i... |
OMIM:618371 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... |
OMIM:620025 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Edema, Polyhydramnios, Short philtrum, Gastroesophagea... |
ORPHA:79324 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Endocardial fibroelastosis, Microdontia, Hypoplasia of the femo... |
OMIM:607014 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, Premat... |
OMIM:311900 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl... |
ORPHA:1596 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, Crypto... |
ORPHA:3304 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... |
ORPHA:91387 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Absent thumb, Microg... |
OMIM:617516 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Aortic regurgitation, Arachnodact... |
OMIM:609008 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormal lung lobation, Hemivertebrae, Or... |
ORPHA:958 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Abnormal lung lobation, Hemivertebrae, Renal cyst, Anteriorly placed anus, Neonat... |
OMIM:146510 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Premature birth, Hy... |
ORPHA:1909 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Short sta... |
ORPHA:3426 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Prominen... |
OMIM:210710 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d... |
ORPHA:2970 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s... |
ORPHA:79094 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand pol... |
OMIM:136760 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... |
OMIM:619148 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Depressed nasal bridge, Abnormality of the kidney, Micromelia, Polyhydramni... |
ORPHA:2655 |
Noonan Syndrome 14 |
|
Polyhydramnios, Short neck, High, narrow palate, Pectus carinatum, Scapular winging, Short statur... |
OMIM:619745 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Short stature, Abnormality of the hand, Short neck, Flat capital femoral ep... |
OMIM:252605 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Premature birth, Micromelia, Micrognathia, Polyhydramnios, Fetal ascites,... |
OMIM:215045 |
Platyspondylic Dysplasia, Torrance Type |
|
Micromelia, Polyhydramnios, Abnormal carpal morphology, Hydrops fetalis, Narrow chest, Short palm... |
ORPHA:85166 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Occipital meningocele, Accessory oral frenu... |
OMIM:616546 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... |
OMIM:600987 |
Monosomy 13Q34 |
|
Epistaxis, Prominent nasal bridge, Micrognathia, Prominent nose, Broad nasal tip, Postaxial hand ... |
ORPHA:96168 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Short phil... |
OMIM:612530 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... |
ORPHA:1354 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Edema, Micrognathia, Polyhydramnios, Fetal akinesi... |
OMIM:253290 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal reflux, Phocomelia, Atrial s... |
ORPHA:2538 |
Scheie Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Wide nose, Depressed nasal bridge, Short neck, Genu ... |
OMIM:607016 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tong... |
ORPHA:96147 |
Feingold Syndrome Type 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ... |
ORPHA:391641 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Short neck, Depres... |
OMIM:613885 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Depressed nasal bridge, Short stature, Micrognathia, Abnormality of the humerus, Prea... |
ORPHA:3098 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Ventric... |
ORPHA:1908 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Aspiration pneum... |
ORPHA:79255 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, Aminoaciduria, High palate, U... |
OMIM:214100 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Short neck, Downturned corner... |
OMIM:601808 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Short neck, Abnormal lung lobation, Hydrops fetalis, Right ventric... |
ORPHA:79328 |
Recombinant 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Atrial septal defect, Cli... |
ORPHA:96167 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bod... |
ORPHA:354 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Bicuspid aortic valve, Short stature, Cervical kypho... |
ORPHA:401923 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Congenital alveola... |
OMIM:608978 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Hydrops fetalis, Pectus carinatum, Narrow greater sciatic notch, Wide... |
OMIM:253220 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Single transverse palmar crease, Muscular ventricular septal defect, Adducted thum... |
OMIM:620062 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Short stature, Proximal ... |
OMIM:620113 |
Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Thoracolumbar s... |
ORPHA:2437 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finge... |
ORPHA:2754 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening... |
OMIM:223200 |
Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys... |
OMIM:245150 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Micrognathia, Fetal akinesia sequence, Breech presenta... |
OMIM:615731 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Broad nasal tip, Preaxial hand polydactyly, Cryptorchidism, Orofacial cleft, Lar... |
ORPHA:85287 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Ectopic kidney, Broad nasal tip, 2-3 toe syndactyly, Cleft palate,... |
OMIM:239800 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short s... |
OMIM:277170 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Polyhydram... |
ORPHA:887 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Decreased fetal movement, Internally rotated shoulders, Dental... |
OMIM:617468 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Renal Tubular Dysgenesis |
|
Premature birth, Polyhydramnios, Oligohydramnios, Renotubular dysgenesis, Proximal tubulopathy, M... |
ORPHA:3033 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, T... |
OMIM:609460 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Polyhydramnios, Short neck, Abnor... |
ORPHA:818 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Short stature, Pectus exca... |
OMIM:619227 |
Monosomy 18Q |
|
Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Bilateral cryptorchidism,... |
ORPHA:1600 |
Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Short neck, Atrial septal defect, Micropenis, Bilateral single t... |
OMIM:244300 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Pectus excava... |
ORPHA:555877 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical kyphosis, Abn... |
ORPHA:666 |
Zaki Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, High palate, Short philtrum, Patent foramen ovale, An... |
OMIM:619648 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflux, Patent for... |
OMIM:157800 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu... |
ORPHA:1507 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Downturned corners of mouth, High palate, Gastroesophageal reflux, Atrioventricular... |
OMIM:613792 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Renal hypoplasia/apl... |
ORPHA:2549 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, Anteverted nar... |
OMIM:145420 |
Temtamy Syndrome |
|
Aortic regurgitation, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Aortic... |
OMIM:218340 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial polydactyly, Micromelia,... |
OMIM:617895 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger, Micropenis, Pelvic kidney, A... |
ORPHA:464306 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti... |
ORPHA:3316 |
Atelosteogenesis Type I |
|
Polyhydramnios, Micrognathia, Narrow chest, Absent or minimally ossified vertebral bodies, Rhizom... |
ORPHA:1190 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Postaxial polydactyly, ... |
OMIM:617866 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, High, n... |
OMIM:612289 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Micrognathia, Abnormal lung lobation, Dandy-Walker malformation, Hypospadias, Mid... |
OMIM:236680 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Depressed nasal bridge, Micro... |
ORPHA:261120 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Polyhydramnios, Abnormal lung l... |
OMIM:215140 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Abnormality of the nose, Hypoplasia of the pons, Metap... |
ORPHA:79321 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Enlarged thorax, High palate, Atrioventric... |
ORPHA:251071 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Aarskog-Scott Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short pa... |
ORPHA:915 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Renal cyst, High palate, Atrial septal defect, Tri... |
OMIM:614866 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Short neck, Renal cyst, Choanal stenosis, Clinodactyly of the 5t... |
OMIM:236500 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Micrognathia, Short neck, Anorectal anomaly, Abnormal lung lobation, Abnormal aor... |
ORPHA:567 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, E... |
OMIM:200610 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Prominent fingerti... |
OMIM:610443 |
Achondrogenesis |
|
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Pol... |
ORPHA:932 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Pectus excavatum, Ascendin... |
OMIM:619825 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... |
OMIM:229850 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Postaxial foot polydactyly, Scol... |
OMIM:174300 |
Femoral-Facial Syndrome |
|
Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th... |
ORPHA:1988 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Micrognathia, Cardiomyopathy, Abnormality of the amniotic fluid, Thin ... |
OMIM:608540 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Abnormality of the kidney, Edema, Protruding tongue, Respiratory tract infection, G... |
ORPHA:93400 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Eso... |
ORPHA:2209 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ... |
ORPHA:2990 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of th... |
ORPHA:464311 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Polyhydramnios, Micrognathia, High palate, Gastroesophageal reflux, Atrial ... |
OMIM:614080 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bilateral single transverse palmar creases, Bicuspid aortic valve, Proxi... |
ORPHA:1120 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Arachnodactyly, High, narrow palate, Kyphosis, Shoulder dislocation, Scolio... |
ORPHA:2181 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Renal agenes... |
ORPHA:140952 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Polyhydramnios, Short neck, Narrow chest, Short phal... |
ORPHA:56304 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal age... |
ORPHA:1335 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflu... |
OMIM:618494 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Thickened ribs, Abnormal heart valve morphology, Severe short statur... |
OMIM:230500 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Gastroesophageal reflux, Atr... |
ORPHA:79345 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly ... |
OMIM:117650 |
Degcags Syndrome |
|
Polyhydramnios, Oral-pharyngeal dysphagia, Micrognathia, Prominent nose, Bilateral renal hypoplas... |
OMIM:619488 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Prom... |
OMIM:612474 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Short neck, High palate, Choanal stenosis, Micro... |
OMIM:259775 |
Trisomy 17P |
|
Hypoplasia of penis, Micrognathia, Prominent nose, Short neck, Orofacial cleft, High palate, Clin... |
ORPHA:261290 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio... |
ORPHA:96334 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Depressed nasal bridge,... |
ORPHA:2876 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right aortic arch, Az... |
OMIM:618300 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, High palate, Atrial se... |
OMIM:612863 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Aortic regurgitation, Sandal gap, Short stature, Tapered finger, Secundum atrial s... |
OMIM:620072 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial ... |
ORPHA:2257 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Short neck, High palate, Atrial septal defect, Clino... |
OMIM:612582 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, ... |
OMIM:300373 |
Bohring-Opitz Syndrome |
|
Polyhydramnios, Micrognathia, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflu... |
OMIM:605039 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Short stature, Abnormality of the hand, Underdeveloped nasal alae, Cry... |
OMIM:192430 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa... |
OMIM:618870 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Short neck, Lobulated tongue, Dandy-Walker malformation, S... |
OMIM:249000 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Micrognathia, Underdeveloped nasal alae, Pectus excavatum, Deep philtrum,... |
ORPHA:77300 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... |
ORPHA:435638 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Situs inversus totalis, Abnormal lung lobation, Femoral bowing, Hypertrophic cardi... |
OMIM:615415 |
Congenital Heart Block |
|
First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Vaginal birth after... |
ORPHA:60041 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Coffin-Siris Syndrome 4 |
|
Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,... |
OMIM:614609 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Depressed nasal bridge, Camptodactyly of ... |
OMIM:607015 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Gingival overgrowt... |
OMIM:619179 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Single transverse palmar crease, Edema, Micrognathia, High palate, A... |
OMIM:618348 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... |
OMIM:617478 |
Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Decreased fetal movement, Polyhydramnios, Elbow flexion contracture, Retrognat... |
OMIM:617194 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Short stature, Cleft upper lip... |
OMIM:243310 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, Short 5th met... |
OMIM:617877 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Micr... |
ORPHA:3376 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-shaped vertebral bodies, Dental ma... |
OMIM:612731 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Wide nose, Short statur... |
ORPHA:85201 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Depressed ... |
OMIM:601927 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micromelia... |
ORPHA:1318 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p... |
OMIM:616145 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Polyhydramnios, Depressed nasal ridge, Bifid uvula, Hypospadias, Anteverted nare... |
OMIM:222470 |
Down Syndrome |
|
Short neck, Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, M... |
ORPHA:870 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... |
OMIM:122470 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial polydactyly, Short statu... |
OMIM:615503 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly... |
OMIM:220500 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren... |
ORPHA:139466 |
8P23.1 Duplication Syndrome |
|
Wide nose, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, ... |
ORPHA:251076 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Short stature, Sudden ... |
ORPHA:991 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Pectus carinatum, Pseudoepiphyses, Short philtrum, Clinodactyly of the 5th... |
OMIM:611962 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se... |
OMIM:619980 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Abnormal odontoid process morphology, Proportionate short stature, Cle... |
OMIM:609654 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, ... |
OMIM:611209 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Atrial septal defect, Abnormal duodenum morphology, Microretrognathia, Tricuspid reg... |
OMIM:601776 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Renal cyst, Fused teeth, High palate, ... |
OMIM:613610 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty... |
ORPHA:2075 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Short stature, Micrognathia, Prominent nose, Cl... |
OMIM:301022 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft palate, Short s... |
ORPHA:268261 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hand polydactyly, Everted low... |
OMIM:249670 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Smooth ... |
OMIM:601559 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, A... |
OMIM:192350 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ... |
OMIM:612651 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Lymphe... |
ORPHA:536471 |
Distal Deletion 10P |
|
Hypoplasia of penis, Short stature, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft l... |
ORPHA:1580 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Anterior atlanto-occipital dislocation, Pectus carinatum, Hig... |
ORPHA:536467 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Temple-Baraitser Syndrome |
|
Wide nose, Broad hallux, Depressed nasal bridge, Proximal placement of thumb, Adducted thumb, Dow... |
OMIM:611816 |
Arthrogryposis, Distal, Type 1C |
|
Short neck, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wrist flexion cont... |
OMIM:619110 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal mitr... |
ORPHA:1277 |
Aneurysm-Osteoarthritis Syndrome |
|
Pectus carinatum, High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial t... |
ORPHA:284984 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Abnormal finger morphology, Chiari type I malformation, Glosso... |
ORPHA:436003 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Anteverted nare... |
OMIM:619879 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal... |
OMIM:618950 |
Birk-Aharoni Syndrome |
|
Duplicated collecting system, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, L... |
OMIM:620071 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Decreased fetal movement, Ventricular septal defect, Single transverse palmar crease, Deep philtr... |
OMIM:619717 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Atrial septal defect, Hypoplastic tricuspid valve, Patent foramen ovale, Pa... |
OMIM:600001 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Secundum atrial septal defect, Hem... |
OMIM:214800 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:213980 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, High palat... |
OMIM:249420 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Short neck, Anorectal anomaly, Renal cyst, Abnormal form of the vertebral bodies, V... |
ORPHA:1834 |
Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, Bulbous nose, Wide nasal base, 2-3 toe syndactyly, Growth d... |
ORPHA:1446 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... |
OMIM:311200 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Short stature, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Ectopic ... |
OMIM:601076 |
Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Tented upper lip vermilion, Tapered finger, Pr... |
OMIM:618580 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Na... |
OMIM:105650 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Pectus ... |
OMIM:618624 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Cryptorc... |
ORPHA:3027 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Preaxial polydac... |
OMIM:615948 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Short neck, Renal cyst, Atrial septal defect, Micropenis, Dandy-Walker malformation... |
OMIM:257300 |
Thanatophoric Dysplasia, Type I |
|
Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm... |
OMIM:187600 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorc... |
ORPHA:1926 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Overriding aorta, Sandal gap, Bicuspid aortic valve, Ventric... |
ORPHA:477817 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Hydrops feta... |
OMIM:613124 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Aplasia/Hypoplasia of the ce... |
ORPHA:75389 |
Marfan Syndrome |
|
Dental crowding, Bicuspid aortic valve, Equinus calcaneus, Micrognathia, Pectus carinatum, High p... |
OMIM:154700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Polyhydramnios, Abnormal lung lobation, Rena... |
OMIM:312870 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Polyhydramnios, Short neck, Narrow chest, Neonatal short-limb short stature, Severe l... |
OMIM:151210 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, La... |
OMIM:274000 |
Houge-Janssens Syndrome 3 |
|
Single transverse palmar crease, Broad nasal tip, Muscular ventricular septal defect, High palate... |
OMIM:618354 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Asp... |
ORPHA:141152 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced... |
OMIM:620269 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ... |
ORPHA:90308 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus de... |
OMIM:256520 |
Alagille Syndrome |
|
Micrognathia, Long nose, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sh... |
ORPHA:52 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Esophageal Atresia |
|
Bronchitis, Polyhydramnios, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal ref... |
ORPHA:1199 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a... |
OMIM:614846 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis, Micrognathia, Cleft palate, Thin ribs, Slender long bon... |
OMIM:618265 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Short neck, Hydrops fetalis, Downturned corners of mouth, High palate, Camptodactyl... |
OMIM:265000 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
Mucolipidosis Type Ii |
|
Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Telangiectases of the cheeks, ... |
ORPHA:576 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Mandibular prognathia, Depressed nasal bridge, Single transverse palmar creas... |
OMIM:617804 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Sh... |
OMIM:620369 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the... |
OMIM:200980 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Abnormal shoulder morphology, Abnormal femoral neck/he... |
ORPHA:85438 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... |
ORPHA:2710 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Pr... |
ORPHA:93267 |
Tetrasomy 9P |
|
Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High palate, Short philtr... |
ORPHA:3310 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Short stature, Broad nasal tip, Bifid nasal tip, Cleft palate, Poly... |
OMIM:300484 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Pectus excavatum, Abnormal car... |
ORPHA:1937 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Abnormal form of the vertebral bod... |
ORPHA:1106 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Ectopic kidney, Tracheoesophageal fistula, Orofacial cle... |
ORPHA:268249 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca... |
OMIM:619657 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse... |
ORPHA:404440 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Severe short stature, Bilateral single... |
ORPHA:2511 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, A... |
OMIM:202650 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Short stature, Micrognathia, Pectus excavatum, Cryptorchidism, Non-midline c... |
ORPHA:1636 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Agenesis of cerebellar v... |
OMIM:614424 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of th... |
ORPHA:776 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Abnormality of the philtrum, Ventricular septal defect, Short stature, Renal hypop... |
ORPHA:1770 |
Trisomy 4P |
|
Hypospadias, Camptodactyly of finger, Depressed nasal bridge, Abnormality of the dentition, Cario... |
ORPHA:1738 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow... |
ORPHA:561 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Depressed nasal bridge, Camptodactyly of finger, Polyhydramnios, Micrognat... |
ORPHA:994 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Prematur... |
ORPHA:1208 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hyp... |
ORPHA:373 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Clinodactyly of the 5th finger,... |
ORPHA:3303 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid... |
ORPHA:2588 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Atrial septal defect, Spina bifida occulta... |
OMIM:150250 |
Roifman Syndrome |
|
Single transverse palmar crease, Downturned corners of mouth, Irregular vertebral endplates, Clin... |
OMIM:616651 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short stature, Short middle phalanx of the 2nd finger, Short thumb, Po... |
OMIM:614326 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short stature, Short thumb, Short mid... |
ORPHA:391646 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Pectus excavatum, Patent ductus arteriosus, Tetral... |
ORPHA:2847 |
Achondrogenesis, Type Ib |
|
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Breech presentation, Hydrops fetalis, Umbili... |
OMIM:600972 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial syno... |
OMIM:251230 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... |
OMIM:614976 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Depressed nasal bridge, Short stature, Hypo... |
ORPHA:261295 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... |
OMIM:305400 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Protru... |
OMIM:617062 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... |
ORPHA:2756 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se... |
ORPHA:289 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Decreased fetal movement, Absence of renal corticomedullary dif... |
OMIM:619758 |
Trisomy 18 |
|
Atrial septal defect, Bilateral single transverse palmar creases, Microretrognathia, Short statur... |
ORPHA:3380 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Micrognathia, Abnormality of the urethra, Abnormali... |
ORPHA:2145 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid... |
ORPHA:1406 |
Filippi Syndrome |
|
Cerebellar atrophy, Ventricular septal defect, Single transverse palmar crease, Underdeveloped na... |
OMIM:272440 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Polyhydramnios, Micrognathia, Bilateral cryptor... |
OMIM:180849 |
9q subtelomeric deletion syndrome |
|
Abnormal heart morphology, Anteverted nares, Short nose, Protruding tongue |
DECIPHER:52 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Fetal akinesia sequence, High ... |
OMIM:618975 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Respiratory tract infection, Atelectasis, Cl... |
ORPHA:244 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Recurrent urinary tract infections, Severe short stature, Short neck, Bifid... |
OMIM:616854 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Decreased fetal movement, Premature birth, Secundum atrial septal defect, Narr... |
OMIM:616866 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re... |
ORPHA:261494 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ectopic kidney, Lymphedema, H... |
ORPHA:2136 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Long nose, Downturned corners of mouth, High palate, Atrial septal defect, Clino... |
OMIM:617602 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia... |
OMIM:613390 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy... |
OMIM:619003 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,... |
OMIM:619472 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... |
ORPHA:819 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Mgat2-Cdg |
|
Dental crowding, Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus arteriosus,... |
ORPHA:79329 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... |
OMIM:618363 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, Abnormal curvature of the v... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, Abnormal curvature of the v... |
ORPHA:353277 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi... |
ORPHA:2863 |
Gm1-Gangliosidosis, Type Ii |
|
Premature birth, Protruding tongue, Coxa valga, Thoracolumbar kyphosis, Patent ductus arteriosus,... |
OMIM:230600 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Pulmonary hypoplasia, Renal... |
ORPHA:3032 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Wide nose, Sandal gap, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:616652 |
Kabuki Syndrome 2 |
|
Micrognathia, High palate, Atrial septal defect, Prominent fingertip pads, Atrioventricular canal... |
OMIM:300867 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Downturned corners of mouth, Gastroesopha... |
ORPHA:329224 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Short neck, Abnormal sacrum mo... |
ORPHA:2345 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Pectus excavatum, Calcaneovalgus deformity, Mitral valve prolapse, Mitral r... |
OMIM:225320 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Gastroesophag... |
ORPHA:353281 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morphology, Gastr... |
ORPHA:531151 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Short neck, Anter... |
OMIM:305450 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Shor... |
OMIM:244600 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Micrognathia... |
OMIM:224410 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Malabsorption, Micrognathia, Prot... |
OMIM:242860 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Cleft upper lip,... |
OMIM:106260 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Single transverse palmar crease, Micrognathia, Periorbital edema, Rectal prolapse, Gastroesophage... |
OMIM:613177 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypoplasia of the pons, Deep philtrum, Downturned corners of mouth, Vesicoureteral reflux, Microp... |
ORPHA:163956 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, S... |
OMIM:214300 |
Zechi-Ceide Syndrome |
|
Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, ... |
OMIM:612916 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-marrow foam ce... |
OMIM:256550 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... |
OMIM:615996 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Cle... |
ORPHA:1727 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, Ventricular septal defect, Underdev... |
ORPHA:276432 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm... |
ORPHA:3429 |
Juvenile Sialidosis Type 2 |
|
Abnormality of the kidney, Protruding tongue, Gingival overgrowth, Abnormal form of the vertebral... |
ORPHA:93399 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Intracranial hemorr... |
ORPHA:740 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Short stature, Polyhydramnios, Abnormal limb bone morphology, Hydrops fetalis, Aplasia/Hypoplasia... |
ORPHA:2204 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal... |
OMIM:619103 |
Metatropic Dysplasia |
|
Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal inter... |
ORPHA:2635 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Ventricular septal defect, Micrognathia, Prominent nose, Long fingers, P... |
OMIM:615668 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuria, Micrognathia... |
OMIM:616730 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Sandal gap, Short stature, High, narrow palate, Dilated cardiomyopathy... |
ORPHA:2515 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, ... |
ORPHA:3309 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Sacral dimple, Dilation of Virchow-Robin spaces, Hypospadias, Narrow nose, Tapered... |
ORPHA:261311 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Aminoaciduria, Short philtrum, Clinodactyly, Pulmonary hemorrhage |
OMIM:603585 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,... |
OMIM:280000 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Short philt... |
OMIM:618454 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Dental crowding, Abnormal heart valve morphology, Abnormality of the dentition, Disproportionate ... |
ORPHA:2868 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Pyloric stenosis, Rib fusion, Cleft pal... |
ORPHA:261197 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Short neck, Patent ductus arteriosus, Bilateral cleft lip a... |
ORPHA:2001 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Decreased fetal movement, Rocker bottom foot, Polyhydramnios, Micrognathia, Sho... |
OMIM:618393 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... |
ORPHA:2751 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Oligosacchariduria, Cortical... |
ORPHA:309282 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor... |
OMIM:252600 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced ... |
OMIM:608227 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Decreased fetal movement, Depressed nasal bridge, Edema, Short neck, Pericard... |
OMIM:608776 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Narrow chest, Absent ... |
ORPHA:93271 |
Syndromic Diarrhea |
|
Aortic regurgitation, Atrial septal defect, Villous atrophy, Bicuspid aortic valve, Gastritis, Ve... |
ORPHA:84064 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... |
OMIM:164210 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, T... |
OMIM:618829 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A... |
ORPHA:2461 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Na... |
OMIM:277720 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Hypospadi... |
OMIM:616449 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Polyhydramnios, Micrognathia, Short neck, Abnormality of the elbow, Abnormal rib m... |
ORPHA:1486 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Depressed nasal bridge, Micrognathia, High palate, Transp... |
ORPHA:1913 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Mi... |
OMIM:618815 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Polyhy... |
OMIM:216340 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Hypertrophy of the urinary bladder, High palate, Gastroes... |
ORPHA:280633 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coa... |
ORPHA:101028 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ... |
OMIM:109400 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... |
ORPHA:2476 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Spontaneous chorioamniotic separation, Polyhydramnios, Micrognathia, Premat... |
OMIM:275210 |
Fetal Akinesia Deformation Sequence 1 |
|
Polyhydramnios, Micrognathia, Fetal akinesia sequence, High, narrow palate, Short neck, High pala... |
OMIM:208150 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Gastroesophageal reflux, Clinoda... |
OMIM:164745 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Preaxial ha... |
OMIM:606242 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Short stature, Stage 5 chr... |
OMIM:615993 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, M... |
OMIM:618021 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Anteverted nares, Short stature, Carious teeth, Cryptorc... |
ORPHA:2701 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Sandal gap, Micrognathia, Cryptorchidism, Congestive heart failure, Endocard... |
ORPHA:2022 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v... |
ORPHA:3320 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Cardiomegaly, Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow ches... |
OMIM:613320 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Deep philtrum, Renal cyst, Downturned corners of mouth, Nephrocalcinosis, High palate, Hypoplasia... |
OMIM:615398 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Renal agenes... |
OMIM:212780 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Postaxial hand poly... |
ORPHA:83473 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Micr... |
OMIM:615761 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... |
ORPHA:3405 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyly, Multicystic kidney d... |
ORPHA:2092 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... |
OMIM:620066 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, Atelectasis, Interc... |
ORPHA:258 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short stature, Cleft upper l... |
OMIM:614294 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal placental membrane morphology, Polyhydramnios, Abnormal finger m... |
ORPHA:79500 |
Sonoda Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Short stature, Narrow mouth, High axial triradius |
OMIM:270460 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Polyhydramnios, Aplasia of the epiglottis, Narrow chest, Atrioventricular canal defect, Depressed... |
OMIM:617088 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car... |
ORPHA:295 |
Craniofacioskeletal Syndrome |
|
Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B... |
OMIM:300712 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Cleft upper lip, Abnormal toe morphology, Abnorma... |
OMIM:216100 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Ve... |
ORPHA:453499 |
Hyperlysinemia |
|
Short stature, Argininuria, Recurrent pneumonia, Depressed nasal ridge, Cystinuria, Pulmonary art... |
ORPHA:2203 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ... |
OMIM:158170 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation |
OMIM:615476 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Downturned corners of mouth, High pala... |
OMIM:300868 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Prominent nasal bridge, Abnormality of the dentition, Carious teeth... |
ORPHA:3270 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Hypertension, Pulmonary hypoplasia, Abnormal renal corticomedullary... |
OMIM:616733 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Polyhydramnios, Short neck, Bicuspid pulmonary va... |
ORPHA:709 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Coxa vara, Premature rupture of membranes, High palate, Microdontia, ... |
OMIM:278250 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Depressed nasal bridge, Abnormality of the hand, Mi... |
ORPHA:1387 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Abnormal heart valve morphology, Short stature, Hyperlordosis, Cleft p... |
ORPHA:577 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Dandy-Walker malform... |
ORPHA:2750 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... |
OMIM:156510 |
C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An... |
OMIM:211750 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Vascular ring, Mi... |
OMIM:603387 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Short stature, Cryptorchidism, Short toe, Coronal hypospadias, Cleft... |
ORPHA:921 |
Trisomy 8P |
|
Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, S... |
ORPHA:264450 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Clinodactyly, High palate, Joint contracture of the 5th finger, Atrial ... |
OMIM:164200 |
Cat Eye Syndrome |
|
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Short stature, Patent ductus arteriosu... |
OMIM:115470 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Exaggerated cupid's bow, Rocker bottom foot, Ventricular septal defect, Antev... |
OMIM:618506 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Short stature, Micrognathia, Underdev... |
ORPHA:166035 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Short stature, Cryptorchidism, Gastro... |
OMIM:619189 |
X-Linked Intellectual Disability, Abidi Type |
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Short stature, Prominent nasal bridge, Pectus excavatum, Non-midline cleft lip, Cleft palate, Sco... |
ORPHA:85273 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... |
ORPHA:3035 |
Coffin-Siris Syndrome 6 |
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Depressed nasal bridge, Short stature, Kyphoscoliosis, Micrognathia, Broad nasal tip, High, narro... |
OMIM:617808 |
Schinzel-Giedion Syndrome |
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Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Renal cyst, T... |
ORPHA:798 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Micrognathia, Glutaric aciduria, Cardiomyopathy, D-2-hydroxyglutaric aciduria |
OMIM:600721 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... |
OMIM:610759 |
Coffin-Siris Syndrome 5 |
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Thin upper lip vermilion, Wide nose, Sandal gap, Arachnodactyly, Depressed nasal bridge, Short st... |
OMIM:616938 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
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Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal brid... |
OMIM:618622 |
Cornelia De Lange Syndrome 2 |
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Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ... |
OMIM:300590 |
Congenital Pulmonary Lymphangiectasia |
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Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... |
ORPHA:2414 |
Holoprosencephaly |
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Hypoplasia of penis, Short neck, Deep philtrum, Depressed nasal ridge, Abnormal form of the verte... |
ORPHA:2162 |
Cardiac Valvular Dysplasia 2 |
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Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Heterotaxy, Visceral, 5, Autosomal |
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Atrial reentry tachycardia, Ureteral duplication, Dextrotransposition of the great arteries, Atri... |
OMIM:270100 |
Phocomelia, Schinzel Type |
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Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia mo... |
ORPHA:2879 |
Meckel Syndrome, Type 4 |
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Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect... |
OMIM:611134 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Aortic regurgitation, Duplicated collecting system, Ventricular septal defect, Short stature, Pol... |
OMIM:607721 |
Congenital Tracheomalacia |
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Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Prematu... |
ORPHA:95430 |
Restrictive Dermopathy |
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Ureteral duplication, Premature delivery because of cervical insufficiency or membrane fragility,... |
ORPHA:1662 |
Contractural Arachnodactyly, Congenital |
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Bicuspid aortic valve, Micrognathia, Short neck, Pectus carinatum, High palate, Atrial septal def... |
OMIM:121050 |
Cardiomyopathy, Dilated, 2D |
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Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Cerebrooculofacioskeletal Syndrome 3 |
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Decreased fetal movement, Rocker bottom foot, Edema, Micrognathia, Cleft palate, Talipes equinova... |
OMIM:616570 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
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Dental crowding, Hypoplasia of the pons, Deep philtrum, Oligosacchariduria, Pectus carinatum, Hig... |
ORPHA:397709 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Short neck, Renal cyst, High palate, Premature loss of teet... |
OMIM:102500 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Depressed nasal bridge, Short stature, Broad nasal tip, Short neck, Cleft lip, Patent ductus arte... |
OMIM:618223 |
Adams-Oliver Syndrome |
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Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Premature birth, Ab... |
ORPHA:974 |
Fg Syndrome Type 1 |
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Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Abnormal sternum ... |
ORPHA:93932 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Anteverted nares, Depressed nasal bridge, Premature loss of primary teeth, Prominent nasal bridge... |
OMIM:617364 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial pol... |
OMIM:619721 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the ... |
OMIM:300166 |
Mosaic Trisomy 14 |
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Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Anteverted nares, Micrognathia, Promin... |
ORPHA:1703 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Camptodactyly of finger,... |
ORPHA:261236 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula, Sc... |
OMIM:300958 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Dental crowding, Oral-pharyngeal dysphagia, Long nose, Oligodontia, Short palm, Atrial septal def... |
OMIM:619184 |
Khan-Khan-Katsanis Syndrome |
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Ureteral duplication, Cerebellar vermis hypoplasia, Tented upper lip vermilion, Micrognathia, Ren... |
OMIM:618460 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation, Renal cyst... |
ORPHA:369837 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... |
OMIM:600460 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Prominent nose, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Depressed nasal bri... |
OMIM:300968 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
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Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs... |
ORPHA:88630 |
Noonan Syndrome 2 |
|
Polyhydramnios, Micrognathia, Short neck, Pectus carinatum, Abnormal sternum morphology, High pal... |
OMIM:605275 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Anteverted nares, Decreased palmar creases, Short stature, Micrognathia, Cryptorchidism, Kyphosis... |
ORPHA:352490 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Micrognathia, Short neck, High palate, Triphalangeal thumb, Adenocarcinoma... |
ORPHA:124 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Lateral clavicle hook, Po... |
OMIM:615630 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo... |
OMIM:194190 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft lip,... |
OMIM:619123 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Pos... |
ORPHA:474 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Decreased fetal movement, Tented upper lip vermilion, Depressed... |
OMIM:619777 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Cleft lip, Pul... |
OMIM:611812 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Cardiomegaly, Micrognathia, Neonatal death, Anteverted nares, Depressed nasal bri... |
OMIM:608013 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
Fetal Minoxidil Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Cryptorchidism, Clinodactyly of ... |
ORPHA:1918 |
Lowry-Maclean Syndrome |
|
Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Hyp... |
ORPHA:2409 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, High palate, ... |
ORPHA:192 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Hyperextensibility of the finger joints, Thin upper lip vermilion, Atrial se... |
OMIM:309520 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers,... |
OMIM:620393 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci... |
OMIM:268310 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft lip, Short meta... |
ORPHA:217017 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Polyhydramnios, Micrognathia, Clinodactyly of the 5th finger, Pe... |
OMIM:247200 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Patent ductus arteriosus, Pulmonary hy... |
OMIM:616867 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Short stature, Micrognathia, Lymphedema, Cryptor... |
ORPHA:2077 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Abnormality of t... |
ORPHA:2308 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Anteverted nares, Elongated superior... |
OMIM:213300 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Mi... |
OMIM:243605 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... |
ORPHA:66637 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Sandal gap, Hypospadias, Polyhydramnios, Micrognathia, Renal hypoplasia/apla... |
ORPHA:1046 |
Autosomal Dominant Cutis Laxa |
|
Abnormal curvature of the vertebral column, Emphysema, Bronchiectasis, Pyelonephritis, Scoliosis,... |
ORPHA:90348 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Pectus excavatum... |
OMIM:618330 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Conical tooth, Micrognathia, Supernumerary vertebrae, Micropenis, Syn... |
OMIM:263750 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Rectourethral fistula, High palate... |
OMIM:300000 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Atrial septal defect, Sacral dimple, Dental crowding, Single interph... |
OMIM:257920 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... |
ORPHA:371428 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, Ectopic kidney, High, narrow palate, Short neck, A... |
ORPHA:96149 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Depres... |
ORPHA:2256 |
Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Ventricular septal defect, Short stature, Hypoplasia of the maxilla, Vesicoureteral re... |
OMIM:614261 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Anteverted nares, Short stature, Micrognathia, No... |
ORPHA:1915 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Cryptorchidism, Renal cyst, ... |
OMIM:615982 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Unilateral r... |
OMIM:614576 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... |
OMIM:601349 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Prominent nose, Camptodactyly o... |
OMIM:300280 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Floating-Harbor Syndrome |
|
Short neck, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Humeral pseudarth... |
ORPHA:2044 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Short stature, Proportio... |
OMIM:277600 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Overlapping toe, Down-sloping shoulders, Ventricular sep... |
OMIM:617452 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
Ulbright-Hodes Syndrome |
|
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ... |
ORPHA:3404 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Platyspondyly, Abnormal epiphysis... |
ORPHA:90653 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Achondroplasia |
|
Polyhydramnios, Bowing of the legs, Femoral bowing, Premature rupture of membranes, Narrow greate... |
OMIM:100800 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Tortuous cerebral arteries, Os odontoideum, Unilateral renal agenesis, Post... |
OMIM:616603 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Short stature, Micro... |
OMIM:613604 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Polyhydramnios, Secundum a... |
OMIM:612562 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Premature birth, Un... |
ORPHA:2260 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge,... |
ORPHA:513456 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,... |
OMIM:300707 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Depressed nasal bridge, Abnormality of the dentition, Kyphosis, Upper ... |
OMIM:169400 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Short stature, Microgn... |
ORPHA:228410 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Anteverted nares, Prominent nasal ... |
ORPHA:500159 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Anteverted nares, Micromelia... |
ORPHA:1842 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Metatarsus adductus, Hypopla... |
ORPHA:293939 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Renal cyst, High palate, Gast... |
OMIM:616975 |
Cohen Syndrome |
|
Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Hig... |
OMIM:216550 |
Coffin-Siris Syndrome 2 |
|
High palate, Short philtrum, Dandy-Walker malformation, Anteverted nares, Depressed nasal bridge,... |
OMIM:614607 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corners of mouth, ... |
ORPHA:955 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger, Broad hallux phalanx, Short s... |
ORPHA:250989 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Micrognathia, Lymphedema, Short neck, High palate, Protein-losing enteropathy, Na... |
OMIM:235255 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Noonan Syndrome 13 |
|
Micrognathia, Lymphedema, Short neck, Enlarged thorax, High palate, Widely spaced teeth, Gastroes... |
OMIM:619087 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Cleft palate, Pectus carinatum, Glossoptosis, Long philtrum, Mala... |
ORPHA:166100 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag... |
OMIM:614749 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Beaded ribs, C... |
OMIM:166210 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Short stature... |
OMIM:617164 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops f... |
OMIM:232500 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Short stature, Single transverse palmar crease, Cryptorchidism, Patent ductus arte... |
OMIM:615502 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Rocker b... |
OMIM:619762 |
16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, High, narrow palate, Abnormal tricuspid valve morphology, Atrial septal... |
ORPHA:485405 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Cleft upper lip, Broad nasal tip, Cr... |
OMIM:603671 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Short neck, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Infe... |
OMIM:613192 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Non-midli... |
ORPHA:1752 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Premature loss... |
ORPHA:99843 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a... |
ORPHA:1110 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Polyhydramnios, Downturned corners of mouth, Chiari type I malformation, S... |
OMIM:618027 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnorm... |
ORPHA:276422 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... |
OMIM:153400 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... |
ORPHA:2872 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, Cryptorchidism, 2-3 toe sy... |
ORPHA:3306 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis... |
ORPHA:628 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Func... |
ORPHA:96148 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, P... |
ORPHA:457193 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Anteverted nares, Polyhydramnios, Preaxial hand polydactyl... |
OMIM:263630 |
Charge Syndrome |
|
Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Gastroesophageal reflux, Aplasia/Hypopl... |
ORPHA:138 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Short neck, High palate, Atrial septal defect, Arachnoda... |
ORPHA:505237 |
Kbg Syndrome |
|
Thin upper lip vermilion, Vertebral fusion, Macrodontia, Single transverse palmar crease, Antever... |
ORPHA:2332 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, Short ... |
OMIM:609625 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... |
OMIM:617201 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... |
OMIM:602535 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Decreased fetal movement, Ventricular septal defect, Tongue fas... |
OMIM:253300 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Single transverse palmar crease, Micrognathia, Choanal stenosis, Micropenis, Arachnodactyly, Cryp... |
ORPHA:83617 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Takenouchi-Kosaki Syndrome |
|
Proximal placement of thumb, Lymphedema, Downturned corners of mouth, Abnormal sternum morphology... |
OMIM:616737 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Edema, Myocar... |
ORPHA:81 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide nose, Short stature, Prominent nose, Broad nasal tip, Bulbous nose... |
OMIM:617982 |
Otospondylomegaepiphyseal Dysplasia |
|
Polyhydramnios, Micrognathia, Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Vesicoureteral reflux, Wide nasal bridge, Short foot, Ga... |
ORPHA:228399 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Micrognathia, Pectus excavatum, F... |
OMIM:616843 |
Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Anteverted nare... |
OMIM:616920 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, 11 pairs of ribs, Recurrent respirat... |
OMIM:618356 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus, ... |
OMIM:619149 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, High... |
OMIM:255320 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:609192 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph... |
OMIM:616580 |
Arterial Tortuosity Syndrome |
|
Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachn... |
ORPHA:3342 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, D... |
OMIM:102370 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplica... |
OMIM:617127 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Prominent nos... |
ORPHA:447980 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Long palm, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Ab... |
ORPHA:2759 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Pectus carinatum, High palate, Atrial septal defect, Bilateral coxa v... |
OMIM:615582 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... |
OMIM:208500 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Depressed nasal bridge, Micr... |
OMIM:108721 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Short neck, Deep philtrum, Pectus carinatum, Chiari type I malformation, High pal... |
OMIM:617506 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Hy... |
OMIM:614175 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... |
OMIM:619433 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... |
ORPHA:46627 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short stature, Short thorax, Ab... |
ORPHA:2484 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ... |
ORPHA:2347 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H... |
OMIM:309580 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Kyphoscoliosis, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... |
OMIM:612913 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Short stature, Protruding tongue, Broad nasal t... |
OMIM:618106 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement... |
OMIM:261540 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo... |
ORPHA:828 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m... |
ORPHA:584 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Short stature, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narro... |
ORPHA:93946 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Abnormal ... |
OMIM:619475 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Hypospadias, Abnormality of the dentition, Kyph... |
ORPHA:1548 |
Noonan Syndrome 11 |
|
Atrial septal defect, Depressed nasal bridge, Short stature, Pectus excavatum, Bulbous nose, Thic... |
OMIM:618499 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Short stature, Abnormality of the urete... |
ORPHA:1035 |
Sialidosis Type 2 |
|
Short stature, Kyphosis, Short thorax, Hydrops fetalis, Pedal edema, Pectus carinatum, Umbilical ... |
ORPHA:87876 |
Carey-Fineman-Ziter Syndrome |
|
Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Glossoptosis, High p... |
ORPHA:1358 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finge... |
OMIM:620073 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... |
OMIM:271640 |
Hydrops Fetalis |
|
Abnormality of the gastrointestinal tract, Abnormality of the kidney, Polyhydramnios, Lymphedema,... |
ORPHA:1041 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Abnormality of the kidney, Micromelia, Short stature, Poly... |
ORPHA:93274 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... |
OMIM:614823 |
Toriello-Carey Syndrome |
|
Micrognathia, Short neck, Clinodactyly, Anteriorly placed anus, High palate, Narrow chest, Aplasi... |
ORPHA:3338 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Abnormality of the kidney, Polyhydramnios, Cryptorchidism, Bulbous nose, Gastroe... |
ORPHA:466926 |
Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Wide mouth, Gastroesophageal reflux, Scoliosis, Pulmonic stenosis |
OMIM:614325 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co... |
ORPHA:404443 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil... |
ORPHA:245 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Wide ... |
OMIM:618569 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias,... |
ORPHA:912 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Ren... |
ORPHA:2167 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Short... |
ORPHA:3103 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Polydactyly, Nephroblastoma, Smoot... |
OMIM:602501 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Long philtrum, Short statu... |
OMIM:270450 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular septal... |
OMIM:617751 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bodies,... |
ORPHA:3015 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Premature birth, Pectus excavatum, Cryp... |
OMIM:615102 |
Coffin-Siris Syndrome 3 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Short distal phalanx of the 5... |
OMIM:614608 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Short phalanx of... |
OMIM:605130 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Gastroesophageal reflux,... |
OMIM:600373 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Short stature, Tapered finger, Cryptorchidism, Pa... |
OMIM:617159 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patellar hypoplasia, Widely spaced teeth, Gastroesophageal reflux, Atrial septal defect, Intraute... |
ORPHA:261279 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Microdontia, Abnormality... |
ORPHA:1307 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Short stature, Spina bi... |
ORPHA:1393 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Pulmonary hypoplasia, Clino... |
OMIM:601163 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Short stature, Camptodactyly of finger, Abnormality of the denti... |
ORPHA:1794 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Single transvers... |
OMIM:619720 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria... |
ORPHA:3469 |
Timothy Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis... |
OMIM:601005 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Finger syndactyly, Thin upper lip vermilion, Branchial cyst, Dental crowdi... |
ORPHA:435938 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal... |
ORPHA:2007 |
Juberg-Hayward Syndrome |
|
Wide nose, Toe syndactyly, Hypospadias, Severe short stature, Short thumb, Hypoplasia of the radi... |
ORPHA:2319 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Thoracolumbar kyphosis, Polyhydramnios, Increase... |
ORPHA:508533 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Ectopic kidney, Short neck, Hy... |
OMIM:263650 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Bilateral single transverse ... |
ORPHA:3253 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short me... |
OMIM:608328 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Short neck, Clinodactyly, Downturned corners of mouth, High palate, Widely... |
ORPHA:369891 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Anteverted nares,... |
OMIM:619135 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, High palate, Short philtrum, Gastroesophageal reflux, Bifid uv... |
OMIM:188400 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Wide nose, Abnormal nasal bone morphology, Choana... |
ORPHA:521308 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Cerebellar vermis hypoplasia, Edema, Renal cyst, Abnormality of the amniotic flu... |
OMIM:212065 |
Seckel Syndrome 2 |
|
Hypospadias, Short stature, Micrognathia, Ectopic kidney, Prominent nose, Heart murmur, Growth de... |
OMIM:606744 |
Noonan Syndrome 4 |
|
Ureteral duplication, Pectus excavatum of inferior sternum, Ventricular septal defect, Depressed ... |
OMIM:610733 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, Tapered fi... |
OMIM:613870 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Micrognathia, Tapered finger, Proximal renal tu... |
OMIM:181180 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl... |
OMIM:301043 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Prominent nose, Anteriorly placed anus,... |
OMIM:606170 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Micrognathia, Choanal a... |
OMIM:610536 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... |
ORPHA:2752 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinov... |
ORPHA:916 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... |
ORPHA:228190 |
De Barsy Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Coxa vara, Prominent veins on trunk, Pr... |
ORPHA:2962 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Syndactyly, Anal stenosis, Cerebellar vermis hypoplasia, Hypospadias, Short ... |
ORPHA:314679 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Biemond Syndrome Type 2 |
|
Short stature, Preaxial polydactyly, Hypospadias, Delayed puberty |
ORPHA:141333 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Premature birth, Edema, Hydrops fetalis, Oligohydramni... |
ORPHA:79325 |
Icf Syndrome |
|
Recurrent respiratory infections, Depressed nasal bridge, Short stature, Malabsorption, Micrognat... |
ORPHA:2268 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Renal hypoplasia, Cleft palate, High pa... |
OMIM:246560 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ... |
OMIM:300882 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Ventricular septal defect, Depressed nasal bridge, Short stature, Broad... |
OMIM:619995 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Tricuspid regurgitation, Depressed nasal bridge, Dextrocardia, Cryptorc... |
OMIM:618929 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Anteverted nares, Depressed nasal bridge, Fetal akinesia sequence, Hydr... |
ORPHA:85212 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, C... |
OMIM:615633 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... |
OMIM:225060 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dent... |
OMIM:258865 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Pectus carinatum, Ao... |
OMIM:301039 |
3Mc Syndrome 3 |
|
Sacral dimple, Short stature, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Cleft palate... |
OMIM:248340 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Depressed nasal bridge, Promine... |
OMIM:618974 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroesophageal ref... |
OMIM:614701 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Downturned corners of mouth, Ver... |
ORPHA:261318 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Tetraploidy |
|
Convex nasal ridge, Micrognathia, Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Aplas... |
ORPHA:3305 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Abnormality of the kidney, Short stature, M... |
ORPHA:459061 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Pectus excavatum, Lymphedema, Short... |
OMIM:607131 |
Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Prominent pa... |
OMIM:272950 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of t... |
OMIM:616738 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Wide nasal ridge, Prominent nose, Hypopla... |
ORPHA:251061 |
Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Coxa ... |
ORPHA:1425 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... |
ORPHA:63260 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Micrognathia, Hypoplasia of the pons, Kyphosis, Interstitial emphysema, Bronc... |
OMIM:619708 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu... |
OMIM:258860 |
Carey-Fineman-Ziter Syndrome 1 |
|
Micrognathia, Glossoptosis, High palate, Gastroesophageal reflux, Anteverted nares, Depressed nas... |
OMIM:254940 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis |
OMIM:617577 |
Acrofrontofacionasal Dysostosis |
|
Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, Short stature, Non-midline cle... |
ORPHA:1784 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Short stature, Micrognathia, ... |
OMIM:250410 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d... |
ORPHA:163979 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Short stature, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplant... |
OMIM:268850 |
Frontoocular Syndrome |
|
Prominent nasal bridge, Micrognathia, Pectus excavatum, Narrow philtrum, High palate, Pulmonic st... |
OMIM:605321 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding,... |
ORPHA:313892 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilater... |
OMIM:618652 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cerebellar vermis hypoplasia, Short stature, Polyhydramnios, Cleft upper lip, Short ne... |
ORPHA:1394 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly |
ORPHA:85203 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Micrognathia, Postnatal growth retardation, Patent ductu... |
ORPHA:2306 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short stature, Micrognathia, Short neck, High, narrow palate, Supernumerary to... |
ORPHA:1787 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morpholo... |
ORPHA:2772 |
Marfan Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus carinatum, Emp... |
ORPHA:558 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Short stature, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Micropeni... |
OMIM:147950 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Abnormal lung lobation, Depressed nasal ridge, Hemivertebrae, Atrial septal defec... |
ORPHA:672 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Pectus excavatum, Cryptorchidism, Anosmia, Cleft pala... |
OMIM:244200 |
Diprosopus |
|
Abnormality of the nose, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac septu... |
ORPHA:1681 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Clinodactyly of the 5th finger, Micropenis, Dandy-... |
ORPHA:96092 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Cle... |
ORPHA:398156 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... |
ORPHA:284169 |
Mosaic Trisomy 20 |
|
Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear... |
ORPHA:1724 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Trisomy 10P |
|
Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Gastroesophageal reflux, Abnormal hip ... |
ORPHA:171929 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Micrognathia, Vesicoureteral reflux, Broad hallux, Exaggerated cupid's bow, Hypospadias, Tapered ... |
OMIM:618659 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... |
ORPHA:79113 |
Shprintzen-Goldberg Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the vertebral bodi... |
ORPHA:2462 |
Costello Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Depress... |
ORPHA:3071 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodont... |
OMIM:601216 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Wide nose, Ventricular septal defect, Prominent nasal brid... |
ORPHA:3255 |
Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Mal... |
OMIM:615984 |
Intellectual Disability-Strabismus Syndrome |
|
Polyhydramnios, Micrognathia, Prominent nose, Short neck, High palate, Gastroesophageal reflux, A... |
ORPHA:363528 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Premature rupture of membranes, Oligodontia, Widely space... |
OMIM:615873 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me... |
ORPHA:99147 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Abnormally ossified vertebra... |
ORPHA:3301 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Schuurs-Hoeijmakers Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios... |
OMIM:615009 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micrognathia, Pectus carinatum, Short palm, Micropenis, Hypospadias, Anteverted nares, Depressed ... |
ORPHA:171839 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Lymphedema, High palate, Widely spaced teeth, Gastroesophageal reflux, Vesicoureter... |
OMIM:606232 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,... |
OMIM:211350 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Tibial bowing, High palate, Short ... |
ORPHA:251028 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Short stature, Long philtrum, Atrial septal defect, Pulmonar... |
OMIM:300887 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Pectus excavatum, Coarctation of aorta, Hand polydacty... |
ORPHA:261243 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Aortic regurgitation, Pneumonia, Oligosacchariduria, Macroglossia, Recurrent ... |
ORPHA:309288 |
Thanatophoric Dysplasia Type 1 |
|
Micromelia, Polyhydramnios, Femoral bowing, Narrow chest, Atrial septal defect, Depressed nasal b... |
ORPHA:1860 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Anteverted nares, Depressed nasal bridge, Premature birth, Protruding tongue, Gingival overgrowth... |
OMIM:618797 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, ... |
ORPHA:96169 |
Severe Congenital Nemaline Myopathy |
|
Decreased fetal movement, Hypospadias, Premature birth, Polyhydramnios, Edema of the dorsum of ha... |
ORPHA:171430 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... |
OMIM:219000 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Anteverted nares, Underdeveloped nasal alae, Pierre-Robin seq... |
OMIM:611961 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... |
OMIM:123700 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Cerebellar hypoplasi... |
OMIM:616276 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Edema, Micrognathia, Short neck, Short metatarsal, Renal cyst, Widely space... |
OMIM:266920 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Portal hy... |
OMIM:216360 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Depressed nasal ridge, Orofacial c... |
OMIM:607872 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, T... |
ORPHA:3201 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Increased density of lo... |
OMIM:305620 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod... |
OMIM:617137 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal widening, Pectus cari... |
OMIM:182212 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Macrodontia, Depressed nasal bridge, Short stature, Broa... |
OMIM:617694 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Congenital Tracheal Stenosis |
|
Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lun... |
ORPHA:141127 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Limited elbow movement, Cleft ... |
OMIM:265050 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased fetal movement, Prominence of the premaxilla, Short stature, Prominent nose, Patent duc... |
OMIM:614886 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
Congenital Myopathy 12 |
|
Decreased fetal movement, Arachnodactyly, Premature birth, Polyhydramnios, Fetal akinesia sequenc... |
OMIM:612540 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... |
ORPHA:750 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... |
OMIM:614078 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Evert... |
OMIM:616789 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Short stature, Oral-pharyngeal dysphagia, Micrognathia, A... |
OMIM:610883 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Proximal placement of thumb, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners... |
OMIM:217980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Arachnodactyly, Short stature, Micrognathia, Underdeveloped nasal alae, Hyp... |
OMIM:300986 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Renal agenesis, Absent thumb, Short neck, Esophageal atresia, Patent d... |
OMIM:300514 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Polyhydramnios, Gastroesophageal reflux, ... |
ORPHA:459070 |
Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Short neck, Abnormal T-wav... |
ORPHA:444072 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, Gastroesopha... |
OMIM:617746 |
Keutel Syndrome |
|
Recurrent respiratory infections, Wide nose, Ventricular septal defect, Depressed nasal bridge, S... |
ORPHA:85202 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Double outlet right ventric... |
OMIM:618164 |
Lambotte Syndrome |
|
Ventricular septal defect, Narrow mouth, Preaxial foot polydactyly, Retrognathia, Convex nasal ri... |
OMIM:245552 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Portal hypertension, Hepatic cysts, Situs inversus t... |
OMIM:208540 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal... |
OMIM:615879 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro... |
ORPHA:3369 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Recurrent respiratory infections, Tented upper lip vermilion, Overlapping to... |
OMIM:619383 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Anteverted nares, Tapered finger, Broad nasal tip, Kyphosis, Th... |
OMIM:300602 |
Hartsfield Syndrome |
|
Encephalocele, Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/H... |
ORPHA:2117 |
Williams Syndrome |
|
Periorbital edema, Abnormal form of the vertebral bodies, Nephrocalcinosis, Microdontia, Short st... |
ORPHA:904 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Polyhydramnios, Micrognathia, Broad nasal ti... |
ORPHA:1655 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Pericarditis, Renal insufficiency, Glomerulopa... |
ORPHA:117 |
Lymphatic Malformation 13 |
|
Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pe... |
OMIM:620244 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Broad nasal tip, Preaxial hand polyd... |
ORPHA:1297 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Chiari malformation |
ORPHA:254351 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus to... |
ORPHA:1666 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Depressed nasal bridge, Short stature, Polyhydramnios, Short neck, Cryptor... |
OMIM:611553 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Short stature, Wide nasal bridge, High palate, Broad alveolar ridges, ... |
OMIM:314320 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Premature birth, Cleft palate, Abnormal heart morphology, Clinodactyly of the 5th finger, Intraut... |
ORPHA:231147 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaph... |
ORPHA:93346 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidism, Muscular ventricular septal... |
ORPHA:66634 |
Braddock Syndrome |
|
Short stature, Unilateral renal agenesis, Micrognathia, Missing ribs, Preaxial hand polydactyly, ... |
ORPHA:52047 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal ... |
OMIM:618067 |
Neu-Laxova Syndrome |
|
Micromelia, Micrognathia, Polyhydramnios, Depressed nasal ridge, Bifid uvula, Dandy-Walker malfor... |
ORPHA:2671 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Thickened nuchal skin fold, Short femur, Tricuspid regurgitation, Cardiomegal... |
OMIM:620306 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Prominent nasal bridge,... |
OMIM:610758 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... |
ORPHA:251014 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia, Cerebellar hypoplasia |
OMIM:615228 |
Distal Duplication 17Q |
|
Micrognathia, Pectus carinatum, High palate, Short philtrum, Vesicoureteral reflux, Renal duplica... |
ORPHA:3379 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:453504 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Short stature, Polyhydramnios, Kyphoscoliosis, Patent ductus arteriosus, Hi... |
OMIM:618005 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:352665 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Glossoptosis, Barrel-shaped chest, A... |
ORPHA:94068 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Micrognathia, Short neck, Pectus carinatum, Shoulder disloca... |
OMIM:245600 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dental crowding, Micrognathia, Premature rupture of membranes, Short philtrum, Narrow nasal ridge... |
OMIM:618343 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax... |
ORPHA:163654 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Hypertensio... |
OMIM:610205 |
2Q37 Microdeletion Syndrome |
|
Short neck, Downturned corners of mouth, Short palm, Clinodactyly of the 5th finger, Broad colume... |
ORPHA:1001 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Noonan Syndrome 10 |
|
Short neck, Pectus carinatum, High palate, Atrial septal defect, Short stature, Cryptorchidism, P... |
OMIM:616564 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age... |
ORPHA:411709 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... |
ORPHA:950 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Edema of... |
OMIM:601803 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, An... |
ORPHA:1488 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Palpebral edema, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cryptorchidi... |
OMIM:214110 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Single transverse palmar crease, Micrognathia, Secundum atrial septal defect, Deep philtrum, Shor... |
OMIM:619951 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Narrow nasal br... |
ORPHA:3082 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Non-midline cleft lip, W... |
ORPHA:1252 |
Distal Deletion 3P |
|
Sacral dimple, Anteverted nares, Short stature, Micrognathia, Short neck, Cryptorchidism, Postaxi... |
ORPHA:1620 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Sho... |
OMIM:617450 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Micrognathia, Underdeveloped na... |
OMIM:616549 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Renal agenesis, Spina bifida, Micrognathia, Renal hypoplasia/aplasia, Cryp... |
ORPHA:3412 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Short stature, Limited elbow moveme... |
OMIM:615065 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri... |
OMIM:615994 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism... |
ORPHA:250999 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodo... |
OMIM:119580 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... |
ORPHA:1225 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognat... |
OMIM:616367 |
Kinsship Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Downturned corn... |
OMIM:619297 |
White Forelock With Malformations |
|
Finger syndactyly, Atrial septal defect, Deep philtrum, Abnormal rib morphology, Clinodactyly of ... |
ORPHA:2475 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Pectus carinatum, Atrioventricular canal defect, Spin... |
ORPHA:500 |
Johnson Neuroectodermal Syndrome |
|
Severe short stature, Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, An... |
ORPHA:2316 |
2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nare... |
ORPHA:251019 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Cardiac amyloidosis, Abnormal vascular morphology, Chronic kidney disease... |
ORPHA:314652 |
Renpenning Syndrome |
|
Mandibular prognathia, Severe short stature, Macrodontia, Hypospadias, Prominent nose, Abnormal t... |
ORPHA:3242 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,... |
OMIM:100300 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria... |
ORPHA:261272 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Abnormal heart morphology, Sh... |
ORPHA:254525 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia |
ORPHA:98795 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Anteverted nares, Micrognathia, Narrow mouth, Short nose, Delayed eruption ... |
OMIM:619356 |
Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis |
OMIM:614464 |
Lateral Meningocele Syndrome |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Short neck, Chiari type I malformation, Hig... |
OMIM:130720 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Gingival fibromatosis, Gingiva... |
ORPHA:1832 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnorm... |
ORPHA:3138 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio... |
OMIM:610682 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the... |
ORPHA:85279 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae... |
OMIM:224690 |
Penile Agenesis |
|
Fetal pyelectasis, Anorectal anomaly, Bilateral renal hypoplasia, Absent penis, Atrial septal def... |
ORPHA:49 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
Distal Duplication 18Q |
|
Thickened nuchal skin fold, Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnorma... |
ORPHA:1716 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Deep philtrum, Wide nasal bridge, Growth del... |
OMIM:300804 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... |
OMIM:129400 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolife... |
OMIM:137940 |
Rhizomelic Syndrome |
|
Rhizomelia, Short stature, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulm... |
OMIM:268250 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Opitz Gbbb Syndrome |
|
Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Vesicoureteral re... |
ORPHA:2745 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Polyhydramnios, Micrognathia, Ce... |
OMIM:114290 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Increased nuchal translucency,... |
OMIM:617635 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capital femoral epiphys... |
OMIM:215150 |
King-Denborough Syndrome |
|
Decreased fetal movement, Lumbar hyperlordosis, Ventricular septal defect, Short stature, Kyphosc... |
OMIM:619542 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Long nose, Cryptorchidism, Kyphosis, D... |
ORPHA:2115 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, High palate, Atrial septal defect, Median cleft palat... |
OMIM:242840 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum... |
ORPHA:314655 |
Noonan Syndrome 7 |
|
Atrial septal defect, Depressed nasal bridge, Short stature, Short neck, Pectus excavatum, Pectus... |
OMIM:613706 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Polyhydramnios, Micrognathia, Coxa vara, Narrow... |
ORPHA:93316 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Anencep... |
OMIM:612284 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Kyphoscoliosis, Pectus excavatum, Cleft palate, Vascular ring, Coarctati... |
OMIM:616954 |
Seckel Syndrome 1 |
|
Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Single transverse ... |
OMIM:210600 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Chiari typ... |
OMIM:114300 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Arachnodactyly, Dental crowding, Narrow mouth, Mitral valve prolapse, Long philtrum, Mitral regur... |
OMIM:615539 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:971 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia |
ORPHA:411511 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Scoliosis, Dysphagia |
ORPHA:98794 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Micrognathia, Postnatal growth retardation, Cryptorchidism, Oligohydramn... |
ORPHA:397590 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short neck, Vertebr... |
ORPHA:263508 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... |
ORPHA:1278 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... |
ORPHA:1234 |
Craniofrontonasal Syndrome |
|
Short neck, Clinodactyly of the 5th finger, Broad hallux, Hypospadias, Short stature, Cleft upper... |
OMIM:304110 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of ao... |
OMIM:614857 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Tapered finger, Gingival over... |
OMIM:616977 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac... |
OMIM:235750 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent nose, Abnormal periodontium m... |
ORPHA:480880 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Short neck, Tetraphocomelia, High palate, Atrial septal defect, Pho... |
OMIM:268300 |
Coffin-Siris Syndrome |
|
Aspiration pneumonia, Atrial septal defect, Hepatoblastoma, Thick nasal alae, Dandy-Walker malfor... |
ORPHA:1465 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Micropenis, Short st... |
OMIM:300534 |
Noonan Syndrome |
|
Thickened nuchal skin fold, Short stature, Abnormal pulmonary valve morphology, Micrognathia, Pec... |
ORPHA:648 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Premature birth, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal lung lobation... |
ORPHA:2063 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Short... |
OMIM:617102 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Abnormal heart morphology, Intrauterine growth retardati... |
OMIM:600252 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Downturne... |
ORPHA:199 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... |
ORPHA:167635 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Submucous clef... |
OMIM:222765 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Chiari type I malformation, Nephrocalcinosis, Gastroesoph... |
OMIM:194050 |
Pycnodysostosis |
|
Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Naxos Disease |
|
Sudden cardiac death, Cleft upper lip, Congestive heart failure, Cardiomyopathy, Palmoplantar ker... |
ORPHA:34217 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, A... |
ORPHA:2928 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Hydrolethalus |
|
Premature birth, Micromelia, Micrognathia, Polyhydramnios, Cryptorchidism, Postaxial hand polydac... |
ORPHA:2189 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Gastroesophageal... |
OMIM:619312 |
H Syndrome |
|
Hallux valgus, Short stature, Abnormality of the kidney, Cleft upper lip, Malabsorption, Recurren... |
ORPHA:168569 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Patent ductus art... |
ORPHA:2123 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia, Bilateral talipes equinovarus, Cerebellar hypoplasia, Short stature |
OMIM:618174 |
Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Wide mouth, Branchial anomaly, Aplasia/Hypoplasia of the ... |
ORPHA:1296 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Metaphyseal widening, Pectus carinatum, Atrial septal defect, Nephritis, Recurrent br... |
OMIM:617303 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Atrial septal defect, Wide nose, Dental crowding, Ventricular septal defec... |
ORPHA:769 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ... |
ORPHA:166016 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Postnatal growt... |
ORPHA:96184 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... |
OMIM:615777 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, High palate, Short philtrum, Camptoda... |
ORPHA:261337 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Abnormal rib ca... |
OMIM:217100 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short stature, Short neck, Pectus excavatum, Cleft lip, Deep ... |
OMIM:618571 |
Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Short stature, Polyhydramnios, Short neck, Crypt... |
OMIM:615355 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic... |
ORPHA:99094 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Uppe... |
ORPHA:496689 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, Bicuspid aortic valve, High, narrow palate, Rec... |
OMIM:309800 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal ag... |
OMIM:617190 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Kyphoscoliosis, Cleft palate, Pseudo... |
OMIM:607371 |
Feingold Syndrome 1 |
|
Polyhydramnios, Micrognathia, High palate, Anteverted nares, Short thumb, Short toe, Esophageal a... |
OMIM:164280 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Miss... |
ORPHA:3186 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Abnormal cerebral vascular morphology, Prominent nose, Coxa vara, Hypoplastic iliac w... |
ORPHA:2637 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Neonatal omphalitis, ... |
OMIM:612541 |
Dysostosis, Stanescu Type |
|
Micromelia, Short neck, Hypoplasia of the maxilla, Short stature, Abnormal dental enamel morpholo... |
ORPHA:1798 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Short stature, Bifid nasal tip, Pectus excavatum, Bilatera... |
OMIM:618874 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... |
OMIM:615508 |
Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, R... |
ORPHA:397 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the dentition, Hypoplasia of the pons, Hydrops fetalis, Growth delay, Cardiomyopat... |
ORPHA:88618 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia, Scoliosis |
OMIM:616540 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Single transverse palmar cr... |
OMIM:613443 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Mitral valve pr... |
ORPHA:3238 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Oligosacchariduria, Downturned corners of mouth, High palate, Narrow ch... |
ORPHA:163649 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios |
OMIM:619887 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cleft palate, Cleft upper lip |
OMIM:120433 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Prominent nose, Carious teeth, Bronchiectasis, Lumbar kyphosis, High p... |
OMIM:620184 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Anal atresia, Tetralogy of Fallot,... |
ORPHA:1381 |
Legius Syndrome |
|
Micrognathia, Pectus excavatum, High, narrow palate, Short neck, Supravalvar pulmonary stenosis, ... |
OMIM:611431 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal... |
ORPHA:397715 |
Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios |
OMIM:615721 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Dysphagi... |
ORPHA:89844 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Hypospadias, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Sh... |
OMIM:613823 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Glandular hypospadias, Downtu... |
OMIM:136140 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d... |
ORPHA:857 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Micrognathia, Secundum atrial septal defect, Prominent nose, Long hallux, Pectus c... |
OMIM:620194 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping, Hyperlordo... |
OMIM:184250 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il... |
OMIM:611717 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Mend Syndrome |
|
Microretrognathia, Crossed fused renal ectopia, Sacral dimple, Overlapping toe, Broad hallux, Pro... |
OMIM:300960 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath... |
ORPHA:1300 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners... |
ORPHA:2729 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal ridge, Renal cyst, Gastroesophageal reflux, Clinodactyly of ... |
ORPHA:1606 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fib... |
OMIM:258315 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge... |
ORPHA:2662 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Micrognathia, Dilated cardiomyopathy, Mitral regurgitation, High palate, Narrow ... |
OMIM:615959 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hepatoblastoma, Cleft upper ... |
ORPHA:50 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Severe short stature, Micrognathia, Hyperlordosis, High, narrow palate... |
ORPHA:2780 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased i... |
OMIM:618961 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,... |
OMIM:135900 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:615546 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion |
OMIM:619462 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Micrognathia, Cryptorch... |
ORPHA:261250 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short meta... |
OMIM:305600 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... |
ORPHA:73246 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:93262 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Mandibular prognathia, Protruding tongue, Wide mouth, ... |
ORPHA:72 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Di... |
ORPHA:79282 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Short stature, Patent ductus ... |
OMIM:619869 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Short philtrum, Gastroesopha... |
OMIM:617360 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of th... |
ORPHA:3107 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... |
ORPHA:894 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Premature birth, Bilateral cryptorchidism, Preaxial hand polyda... |
ORPHA:96179 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
X Small Rings |
|
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Antev... |
ORPHA:96201 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Micrognathia, Wrist swelling, Hypo... |
OMIM:166300 |
Alkuraya-Kucinskas Syndrome |
|
Cerebellar dysplasia, Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Pe... |
OMIM:617822 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Severe short stature, Anteverted nares, Missing ribs, Short nec... |
ORPHA:1797 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Recurrent respiratory infections, Severe short stature, Ventricular septal ... |
ORPHA:3047 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Pectus excav... |
OMIM:300676 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short stature, Short thumb, Mitral regurgitation, Pulmonic stenosis, A... |
ORPHA:3449 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Edema, Macroglossia, Short long bone, Narrow chest, Fla... |
ORPHA:1423 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue... |
OMIM:258850 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... |
OMIM:613680 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Renal insufficiency, Short stature, Chronic kidney disease, Dehydration, G... |
ORPHA:1667 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Prominent nasal bridge, Micrognathia, Pectus excavatum, Cryptorchidism, Branchial ... |
ORPHA:1131 |
Trisomy 9P |
|
Brachydactyly, Sacral dimple, Dental crowding, Short neck, Abnormal nasal morphology, Kyphosis, N... |
ORPHA:236 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Short neck, Deep philtrum,... |
OMIM:115150 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Limb Body Wall Complex |
|
Amniotic constriction ring, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the pro... |
ORPHA:2369 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephal... |
ORPHA:861 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Cervical kyphosis, Functional abnormality of the bladder, Abnormal ster... |
ORPHA:2953 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... |
ORPHA:1104 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... |
ORPHA:221120 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Short neck, High, narrow palate, Cryptorchidis... |
ORPHA:488632 |
Dysosteosclerosis |
|
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie... |
OMIM:224300 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Abnormal dentate nucleus morphology, Agenesis of cerebellar... |
ORPHA:59315 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Wide nasal bridge, Renal cyst |
OMIM:614870 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal... |
OMIM:241310 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Cerebellar vermis hypoplasia, Single transverse p... |
OMIM:619841 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art... |
ORPHA:1112 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Edema, Polyhydramnios, Short philtrum, Short tibia, Micropenis, Patent foramen ovale, Rhizomelia,... |
OMIM:607143 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept... |
ORPHA:2255 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premax... |
ORPHA:2166 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Arachnodactyly, Short stature, Kyphoscoliosis, Palmoplantar cutis gyrata, Cryptorchidis... |
ORPHA:75496 |
Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Hypospadias, Anteverted nares, Micrognat... |
ORPHA:494344 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Perimembranous ... |
OMIM:618205 |
Noonan Syndrome 1 |
|
Micrognathia, Lymphedema, High, narrow palate, Short neck, Abnormal sternum morphology, High pala... |
OMIM:163950 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, narrow palate, Depr... |
OMIM:607597 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:304120 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:620210 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Long nose, Deep philtrum,... |
OMIM:251260 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Short stature, Postnatal growth retardation, Upper limb asymmetry, High palate, ... |
ORPHA:231140 |
Scheie Syndrome |
|
Aortic regurgitation, Wide mouth, Mucopolysacchariduria, Thick vermilion border, Everted lower li... |
ORPHA:93474 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna... |
ORPHA:959 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Wide nose, Micrognathia, Abnormality of the dentition, Recurren... |
OMIM:618282 |
Renal Agenesis, Bilateral |
|
Fetal polyuria, Renal agenesis, Non-midline cleft lip, Abnormal sacrum morphology, Depressed nasa... |
ORPHA:1848 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Cryptorchidism... |
OMIM:619314 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Small then... |
OMIM:618914 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Rocker bottom fo... |
ORPHA:3078 |
Opsismodysplasia |
|
Edema, Polyhydramnios, Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ... |
OMIM:258480 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Sacral dimple, Depressed nasal bridge, Short stature, Micrognathia, Cryptorc... |
ORPHA:251066 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
Fraser Syndrome |
|
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orofacial cleft, Ur... |
ORPHA:2052 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Short stature, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pu... |
OMIM:613312 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal... |
OMIM:108720 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Atrial se... |
OMIM:244450 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:601390 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramn... |
ORPHA:1790 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... |
OMIM:252940 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Temple Syndrome |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Premature birth... |
OMIM:616222 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Atrial septal ... |
OMIM:613458 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Meningocele, P... |
ORPHA:1827 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Micromelia, Short neck, Postaxial hand polydactyly, Hypoplasia of the small in... |
OMIM:200995 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, As... |
ORPHA:444077 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Wide... |
OMIM:615236 |
Alazami Syndrome |
|
Wide nose, Postnatal growth retardation, Wide mouth, Slender long bone, Thick vermilion border, S... |
ORPHA:319671 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Hemivertebrae, Hepatoblastoma, Dandy-W... |
OMIM:304050 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Decreased fetal movement, Upper limb undergrowth, Horseshoe kidney, Incr... |
OMIM:613630 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Lymphedema, Downturned corners of mouth,... |
ORPHA:487796 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ... |
OMIM:619122 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Joubert Syndrome 37 |
|
Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Postaxial polydactyly, ... |
OMIM:619185 |
Cardiofaciocutaneous Syndrome |
|
Lymphedema, Short neck, High palate, Atrial septal defect, Anteverted nares, Abnormal morphology ... |
ORPHA:1340 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Prominent nose, Short neck, Downturned corners of mouth, High palate, Clinodactyly ... |
ORPHA:177907 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Premature birth, Abnorm... |
ORPHA:2165 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Abn... |
ORPHA:2994 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, High palate, Antenatal intracerebral hemorrhage, Long toe, Lo... |
OMIM:608836 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Meester-Loeys Syndrome |
|
Aortic dissection, Arachnodactyly, Short stature, Gingival overgrowth, Mitral valve prolapse, Cer... |
OMIM:300989 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Arterial tortuosity, Microg... |
OMIM:614437 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Hardikar Syndrome |
|
Premature rupture of membranes, Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, P... |
OMIM:301068 |
Thoracoabdominal Syndrome |
|
Hypospadias, Renal agenesis, Cleft upper lip, Patent ductus arteriosus, Anencephaly, Cleft palate... |
OMIM:313850 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the ve... |
ORPHA:464329 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Short stature, Abnormality of the dentition, K... |
ORPHA:261190 |
Gillespie Syndrome |
|
Cerebellar atrophy, Truncus arteriosus, Cerebellar hypoplasia |
OMIM:206700 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ... |
OMIM:263200 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Wide mouth, Pulmonic sten... |
OMIM:615279 |
Marbach-Rustad Progeroid Syndrome |
|
Prominent superficial veins, Femur fracture, Short stature, Delayed eruption of primary teeth, Mi... |
OMIM:619322 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Broad n... |
ORPHA:137634 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Abnormality of the ki... |
ORPHA:166119 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
Orofaciodigital Syndrome Type 14 |
|
Short neck, Bilateral cryptorchidism, Epispadias, Aplasia of the epiglottis, Lobulated tongue, Da... |
ORPHA:434179 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Absent thumb, Cario... |
ORPHA:96097 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth ph... |
OMIM:614526 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape... |
OMIM:271665 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Abnormality of the dentition, Micr... |
OMIM:617557 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebellar atrophy, Nonimmune hydrops fetalis, Dysphagia |
ORPHA:477774 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... |
OMIM:250460 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Hyposp... |
OMIM:613026 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Decreased fetal movement, Hydranencephaly, Camptodactyly of finger, Abnormal pleura morphology, M... |
ORPHA:2570 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo... |
ORPHA:93473 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Pectus carinatum, Downturned corners of mouth, Clinodactyly of the 5th finger, Bilateral single t... |
ORPHA:488642 |
Bent Bone Dysplasia Syndrome 2 |
|
Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia, Micropenis... |
OMIM:620076 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Farber Disease |
|
CNS foam cells, Short stature, Abnormality of the hand, Nodular pattern on pulmonary HRCT, Atelec... |
ORPHA:333 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus excavatum, Kyphosi... |
OMIM:108300 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Median cleft lip, Ventricular septal defect, Anteverted nares, Proboscis, Cle... |
OMIM:619895 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Depressed nasal bridge, Short hallux, Proximal placement of... |
ORPHA:90650 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Short stature, Tapered finger, Hypopl... |
OMIM:616202 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... |
ORPHA:544254 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Ante... |
OMIM:151050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Short philtrum, Widely spaced... |
OMIM:300967 |
Melnick-Needles Syndrome |
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Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Hartnup Disorder |
|
Glossitis, Short stature, Neutral hyperaminoaciduria |
OMIM:234500 |
7Q11.23 Microduplication Syndrome |
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Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Multiple Epiphyseal Dysplasia Type 4 |
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Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... |
ORPHA:93307 |
Fanconi Anemia, Complementation Group F |
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Sacral dimple, Short stature, Pneumonia, Polyhydramnios, Absent thumb, Placental abruption, Crypt... |
OMIM:603467 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Short neck, Depressed nasal ridge... |
ORPHA:96264 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Curved middle phalanx of the 4th toe, Microretrognathia, Arachnodactyly, An... |
ORPHA:276413 |
Arboleda-Tham Syndrome |
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Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... |
OMIM:616268 |
Cranioectodermal Dysplasia 3 |
|
Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Short stature, 2... |
OMIM:614099 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
Pseudoachondroplasia |
|
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... |
OMIM:177170 |
Specc1L-Related Hypertelorism Syndrome |
|
Ectopic kidney, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced e... |
ORPHA:1519 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, ... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, ... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, ... |
ORPHA:881 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,... |
OMIM:613795 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Abnormal dental morphology, Hypospadias, Short stature, Malar promi... |
ORPHA:2522 |
Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Wide penis, Downturned corners of mouth, Chiari type I... |
ORPHA:3455 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Decreased fetal movement, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short... |
OMIM:614207 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Predominantly lower limb lymphed... |
ORPHA:33001 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short stature, Pectus excavat... |
ORPHA:52055 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:604292 |
Chops Syndrome |
|
Ventricular septal defect, Anteverted nares, Short stature, Cryptorchidism, High, narrow palate, ... |
OMIM:616368 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Downturned corners of mouth, Short philtrum, Hig... |
OMIM:616364 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur, Stroke, Bacterial ... |
ORPHA:1054 |
Lethal Congenital Contracture Syndrome 1 |
|
Edema, Micrognathia, Abnormal thorax morphology, Abnormality of the amniotic fluid, Pulmonary hyp... |
OMIM:253310 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Premature birth, Polyhydramnios, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Nephro... |
OMIM:611087 |
Premature Aging Syndrome, Penttinen Type |
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Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ... |
OMIM:601812 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequence, Congesti... |
ORPHA:367 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Wide no... |
OMIM:617667 |
Distal Deletion 6P |
|
Atrial septal defect, Wide nose, Anteverted nares, Depressed nasal bridge, Abnormality of the den... |
ORPHA:96125 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Congestive heart failure, Wide mouth, Nephrocalcinosi... |
ORPHA:500533 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Pate... |
OMIM:613805 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft ... |
OMIM:618529 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:218350 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Atrial septal defect, Clinodact... |
OMIM:309500 |
Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Thoracic kyphoscoliosis, Ulnar deviation of the hand, Anteverted nares,... |
OMIM:616503 |
Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Proteinuria, Hydrops fetalis, Nephrotic syndrome, Abnormality o... |
ORPHA:834 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Nephroblastoma, Short neck, Palmar... |
ORPHA:77301 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, 2-3 toe... |
OMIM:613398 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Anteverted nare... |
OMIM:616331 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Short stature, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of... |
ORPHA:163966 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art... |
ORPHA:51608 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Atrial septal defect, Tented upper lip vermilion, Depressed nasal bridg... |
OMIM:620075 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Abnormal pleura morpholog... |
ORPHA:29207 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Cryptorchidism, Postaxial hand pol... |
ORPHA:65759 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Palmoplantar hyperkeratosis, High palate, Short philtrum, Patent foramen ovale, Tri... |
OMIM:619127 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Cerebellar atrophy, Protruding tongue |
OMIM:619580 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cerebellar hypoplasia, Neonatal death,... |
OMIM:613730 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Postnatal growth retardation,... |
ORPHA:2728 |
Alagille Syndrome 1 |
|
Long nose, Multiple small medullary renal cysts, Hemivertebrae, Vesicoureteral reflux, Atrial sep... |
OMIM:118450 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Intraut... |
ORPHA:290 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... |
OMIM:613686 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Urin... |
ORPHA:261537 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Anhydramnios, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Talipes ... |
OMIM:191830 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pon... |
OMIM:619909 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stom... |
ORPHA:2869 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Abnormal f... |
ORPHA:896 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Anteverted nares, Postaxial polydactyly, Unilateral ren... |
OMIM:616362 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastroesophage... |
OMIM:301044 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Polyhydramnios, Sh... |
OMIM:218040 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar vermis hypoplasia, Choanal atresia, Protruding tongue, Micrognathia, Pectus excavatum,... |
ORPHA:98889 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Peripheral pulmonar... |
OMIM:273395 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Mandibular prognathia, Tricuspid regurgitation, Short stature, Prominent nasa... |
OMIM:619576 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Ventricular septal defect, Micrognathia, Pectus excav... |
ORPHA:2789 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, 2-3 toe syn... |
OMIM:218000 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... |
OMIM:616007 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemivertebrae,... |
ORPHA:500150 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Premature birth, Postaxial polydactyly, Polyhydra... |
OMIM:219730 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Choanal atresia, Short stature, Micrognathia, Ectopic kidney, Patent d... |
OMIM:613309 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Short stature, Micrognathia, Cleft palate, Genu valgum, Irregular vertebral... |
ORPHA:250984 |
Ctcf-Related Neurodevelopmental Disorder |
|
Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Gastroesoph... |
ORPHA:363611 |
Weiss-Kruszka Syndrome |
|
Exaggerated cupid's bow, Single transverse palmar crease, Proximal placement of thumb, Bicuspid a... |
OMIM:618619 |
Branchial Arch Syndrome, X-Linked |
|
Short stature, Cryptorchidism, High, narrow palate, High palate, Pulmonic stenosis |
OMIM:301950 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Thickened nuchal skin fold, Short stature, Camptodactyly of finger, Abnormali... |
ORPHA:356961 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, ... |
ORPHA:2519 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventouse delivery, Widely spaced teeth, Gastroesophageal reflux, Caesarian section, Amelogenesis ... |
OMIM:619229 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Right atrial enlargement, Rib osteolysis, ... |
OMIM:614008 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Effo... |
ORPHA:3282 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Rocker bottom foot, Abnormal cerebral vascular morpho... |
ORPHA:902 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Wid... |
OMIM:601499 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Thoracic scoliosis, Bilateral cleft lip, Short neck, Pectus excavatum, Shield chest |
OMIM:616994 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... |
ORPHA:2091 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Renal malrotation, Ventricular septal defect, Bowing of the legs, Renal cyst, Mi... |
OMIM:617107 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Back pain, Multiple renal cysts, Gastroesophageal reflux, Vascular d... |
ORPHA:2924 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom... |
OMIM:301041 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent veins on trunk, Shoulder dislocati... |
ORPHA:536532 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micr... |
OMIM:224400 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inc... |
ORPHA:397973 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k... |
OMIM:614527 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, Cryptorchi... |
ORPHA:85284 |
Mitral Valve Prolapse 1 |
|
Reversed usual vertebral column curves, Pectus excavatum, High, narrow palate, Mitral valve prola... |
OMIM:157700 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short stature, Bilateral cryp... |
OMIM:300472 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the maxill... |
ORPHA:1101 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology, Short stature, Prominent nose, Wide nasal... |
ORPHA:1292 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Short nose, Brachydactyly |
OMIM:616459 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Intestinal... |
OMIM:616201 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,... |
OMIM:613803 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Gastroesophageal... |
ORPHA:96182 |
Transaldolase Deficiency |
|
Ventricular septal defect, Depressed nasal bridge, Short neck, Deep philtrum, Patent ductus arter... |
OMIM:606003 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Telangiectasia of the skin, Micr... |
ORPHA:1556 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Atrial septal defect, Depressed nasal bridge, Short stature, High, n... |
ORPHA:79076 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Hypertension, Mit... |
OMIM:173900 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Hip contracture, Vertebral fusion, Ventricular septal defect, Tarsal synosto... |
OMIM:178110 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... |
ORPHA:364577 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syn... |
OMIM:619121 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Intrauterine growth retardation... |
OMIM:616910 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, High ... |
ORPHA:2322 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p... |
ORPHA:210548 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary ... |
OMIM:601389 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Prominent superficial veins, Thoracic scoliosis, Carotid artery stenosis, Microgna... |
OMIM:618000 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Hip dysplasia, Clinodac... |
ORPHA:3375 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Edema, Renal cyst, Gastrointestinal inflamma... |
ORPHA:79404 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Short stature, Underdeveloped nasal alae, Meningo... |
ORPHA:2031 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide mo... |
OMIM:617260 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Ventricular septal defect, Anteverted nares, Short stature, Polyhydramn... |
OMIM:609942 |
Atelis Syndrome 2 |
|
Sacral dimple, Single transverse palmar crease, Micrognathia, Diastema, Prominent nose, Patent du... |
OMIM:620185 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Choanal atresia, Polyhydramnios, Esophageal atresia, Trac... |
ORPHA:1923 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Urin... |
ORPHA:2152 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Hypoplasia of the pons, Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Jacobsen Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, A... |
OMIM:147791 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal d... |
ORPHA:363700 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Choanal a... |
ORPHA:280200 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Short neck, Depressed nasal ridge... |
ORPHA:96263 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Megalencephaly |
|
Atrial septal defect, Short neck, Long penis, Wide nasal bridge, Genu valgum, Macroorchidism |
ORPHA:2477 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Chiari type I mal... |
ORPHA:466791 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Bilat... |
OMIM:613457 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Urin... |
ORPHA:261552 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... |
OMIM:614524 |
Monosomy 18P |
|
Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Pectus excavatum, Lymphedema, Short n... |
ORPHA:1598 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Thoracic hypoplasia, Congestive heart failure, Short long bone, Stillbi... |
OMIM:619751 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ... |
OMIM:614922 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Pa... |
ORPHA:77298 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Depressed nasal bri... |
OMIM:619736 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Recurrent respiratory infections, Short femur, Abnormal mitochondrial shape, Hypos... |
ORPHA:17 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... |
ORPHA:87 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... |
ORPHA:534 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Absent thumb, Short neck, Short thumb, Patent foramen o... |
OMIM:609053 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Tracheoesop... |
ORPHA:1780 |
Parietal Foramina 1 |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Gapo Syndrome |
|
Mandibular prognathia, Abnormal clavicle morphology, Abnormal cerebral vascular morphology, Micro... |
ORPHA:2067 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, Vesicourete... |
OMIM:107480 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, Allergic rhinitis, Pectus excavat... |
OMIM:618162 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, ... |
OMIM:614120 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Short di... |
ORPHA:2776 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Anteverted n... |
OMIM:602782 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, Varicose veins, L... |
ORPHA:500095 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Open mouth, Ventricular septal defect, Decreased fetal movement |
OMIM:616816 |
Campomelic Dysplasia |
|
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Polyhydramnios, Amniotic constriction ring, Downturned corners of mouth, Advanced eruption of tee... |
ORPHA:2215 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Congestive heart ... |
ORPHA:2331 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Tapered finger, Malabsorption, Lymphedema, Hypogeusia, Furrowed tongue, Ham... |
ORPHA:2930 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Pectus carinatum, Thoracic kyphosis, Atrial septal defect, Patent foramen ovale, Barr... |
ORPHA:505248 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Hypoplasia ... |
ORPHA:178303 |
1Q44 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Intestinal malrotation, Short stature, Micrognathia, Horseshoe kidney, G... |
ORPHA:238769 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Depressed nasal bridge, Lumbar hyperlordosis, Apl... |
OMIM:146000 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, Micrognathia |
OMIM:601809 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Oligohydramnios, Dehydration, Nephrocalcinosis, Renal tu... |
OMIM:208085 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... |
OMIM:611560 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Downturned corners of mouth, High palate, Widely spaced teeth, G... |
OMIM:618268 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Polyhydramnios, Facial edema, Epiphyseal stippling, Cerebellar hypoplasia, Tali... |
ORPHA:86822 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Polyhydramnios, Micrognathia... |
OMIM:620186 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Aortic root an... |
OMIM:619910 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Micrognathia, High palate, Atrial septal defect, Prominent fingertip ... |
OMIM:147920 |
Acrocephalopolydactyly |
|
Short neck, Abnormal renal morphology, Depressed nasal ridge, Short long bone, Limb undergrowth, ... |
ORPHA:221054 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Cleft hard palate, Short neck, Nephrocalcinosis, C... |
OMIM:300990 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou... |
OMIM:236700 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Cleft palate, Cleft upper lip |
ORPHA:398189 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Neonatal Marfan Syndrome |
|
Long toe, Tricuspid regurgitation, Arachnodactyly, Micrognathia, Long fingers, High, narrow palat... |
ORPHA:284979 |
C Syndrome |
|
Micromelia, Micrognathia, Polyhydramnios, Short neck, High palate, Clinodactyly of the 5th finger... |
ORPHA:1308 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Thickened nuchal skin fold, Vertebral fusion, Macrodontia, Abnormal dental... |
ORPHA:2916 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, ... |
OMIM:608154 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Depressed nasal bridge, Polyhydramnios, Micrognathia, Pectus excavatum, Fetal... |
OMIM:261515 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural thickening, Fetal p... |
OMIM:620014 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Micrognathia, Pectus excavatum, Spinal rigidity, Dental malocclusion, Mitral re... |
OMIM:617258 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger, Dandy-W... |
OMIM:147800 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardiomegaly, Microg... |
OMIM:614921 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Short stature, Cleft upper lip, Pectus excavatum, Wide n... |
OMIM:201180 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Tongue atrophy, Hip dislocation, Growth delay, Tongue fasciculations, Cerebel... |
OMIM:614678 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te... |
OMIM:257850 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Proteinuria, Depressed nasa... |
OMIM:616901 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... |
ORPHA:2378 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Depressed nasal bridge, Mild postnatal growth retardation, Edem... |
OMIM:265300 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Short stature, Hiat... |
OMIM:617729 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Short stature, Short neck, Deep ... |
OMIM:619750 |
Schisis Association |
|
Encephalocele, Renal agenesis, Premature birth, Micromelia, Spina bifida, Anencephaly, Tracheoeso... |
ORPHA:63862 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... |
OMIM:201170 |
Mend Syndrome |
|
Thickened nuchal skin fold, Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge,... |
ORPHA:401973 |
Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly, Nephronophthisis |
OMIM:614845 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Single transverse palmar crease, Cerebellar gliosis, Abnormal medullar... |
ORPHA:79243 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, Apla... |
ORPHA:564 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat... |
ORPHA:137667 |
Macs Syndrome |
|
Irregular dentition, Single transverse palmar crease, Micrognathia, High palate, Short stature, C... |
OMIM:613075 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Atrial septal defect, Short stature, Dextrocardia, Homocystinuria, Cyst... |
OMIM:277380 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus... |
ORPHA:2328 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Pectus c... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Pectus c... |
ORPHA:363958 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Polyhydramnios, Short neck, Coxa vara, Sprengel anomaly, Pectus carinat... |
ORPHA:800 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Intrauterine growth retardation |
ORPHA:96181 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Polydactyly, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Palmopl... |
OMIM:615108 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Recurrent urinary tr... |
ORPHA:90349 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatoc... |
OMIM:619902 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, High palate, Hypoplastic iliac wing, Abno... |
ORPHA:93315 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p... |
OMIM:620167 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses... |
OMIM:119600 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Cryptorchidism, Arteria lusoria, 2-3 toe syndactyly, Heart murmu... |
OMIM:618653 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Agenesis of cerebellar vermis, Situs inversus totalis, Cerebellar hypoplasia, Atrial septal defec... |
OMIM:601322 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Micrognathia, Prominent nose, Short neck, Abnormal finger morphology, High... |
DECIPHER:81 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Renal cys... |
OMIM:113620 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious te... |
ORPHA:1051 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, Cl... |
ORPHA:2554 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Micrognathi... |
ORPHA:452 |
Noonan Syndrome 6 |
|
Depressed nasal bridge, Short stature, Edema, Polyhydramnios, Pectus excavatum, Cryptorchidism, S... |
OMIM:613224 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation... |
OMIM:243150 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Postnatal growth retardation, L... |
ORPHA:699 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, ... |
OMIM:607361 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim... |
ORPHA:2438 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Increased nuchal tran... |
OMIM:620183 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:457279 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, ... |
ORPHA:79284 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Abnormal small intes... |
ORPHA:90291 |
Mosaic Trisomy 8 |
|
Micrognathia, Short neck, Vertebral segmentation defect, High palate, Narrow chest, Vesicouretera... |
ORPHA:96061 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Anteverted nares, Hypoplasia of the maxill... |
ORPHA:481152 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Carious teeth, Hypop... |
ORPHA:50814 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance... |
ORPHA:949 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Rhizomelia, De... |
OMIM:156550 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Fetal py... |
OMIM:619512 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... |
ORPHA:158687 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Hypospadias, Depressed nasal bridge, Micrognathia, Cryptorchidism, Bulb... |
OMIM:603736 |
Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology,... |
ORPHA:449400 |
Mowat-Wilson Syndrome |
|
Pectus carinatum, Widely spaced teeth, Atrial septal defect, Hypospadias, Pulmonary artery sling,... |
OMIM:235730 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Proteinuria, Depressed nasal bridge, Broad nas... |
OMIM:222448 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Short stature, Submucous cleft hard palate, Vesicoureteral reflux, Renal h... |
OMIM:617660 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cryptorchidism, Cardiomyopathy,... |
OMIM:249270 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Prominent nasal bridge, Secundum atrial septal defect, Cryptorchidism, Bulbous nose,... |
OMIM:618109 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Edema, Polyhydramnios, Short neck, Hemivertebrae, Dandy-Walker malformation, Rhizomelia, Abnormal... |
OMIM:302960 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High... |
OMIM:135500 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa... |
ORPHA:794 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Micropenis, ... |
OMIM:608156 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Tongue atrophy, Retinal telangiectasia, Shoulder girdle muscle weakness, Dysphagia |
OMIM:158900 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... |
OMIM:154780 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Prominent nasal bridge, ... |
ORPHA:313781 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of ... |
OMIM:609015 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Desmosterolosis |
|
Severe short stature, Depressed nasal bridge, Intestinal malrotation, Micromelia, Micrognathia, M... |
ORPHA:35107 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse... |
OMIM:615656 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Choanal stenosis, Atrial septal defect, Neonatal death, Multicystic kidney dysplasia, Hypospadias... |
OMIM:308205 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Micrognat... |
ORPHA:1305 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Anteverted nares, A... |
ORPHA:1512 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Polyhydramnios, Situs inversus totali... |
ORPHA:990 |
Lymphatic Malformation 1 |
|
Urethral stricture, Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune h... |
OMIM:153100 |
Trisomy 12P |
|
Thickened nuchal skin fold, Short stature, Micrognathia, Short neck, Wide nasal bridge, Cleft pal... |
ORPHA:1699 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Palmopl... |
OMIM:615109 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology, Hypoplas... |
ORPHA:2457 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, D... |
OMIM:267000 |
Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Pro... |
ORPHA:355 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Short neck, ... |
ORPHA:251038 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Wide nasal bridge, Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Abnormality of the dentition, Avascular... |
ORPHA:77258 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Mitral valve calcification, Abnormal heart valve morphology, Pr... |
ORPHA:77261 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, S... |
OMIM:182250 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Solar Urticaria |
|
Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology, Syncope |
ORPHA:97230 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Coarctation of ao... |
ORPHA:261183 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Single transverse palmar crease, Urinary incontinence, Long nose, Downturned ... |
OMIM:619522 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Glossoptosis, Rib exostoses, Clinodactyly of the 5th finger, C... |
ORPHA:2108 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly |
OMIM:615985 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Finger syndactyl... |
ORPHA:2907 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Gastroesophageal reflux,... |
OMIM:614961 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Lateral clavicle hook, Th... |
OMIM:613804 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Anteriorly placed anus, Paten... |
OMIM:620305 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Hypoperistalsis, Renal... |
OMIM:611376 |
Autosomal Recessive Polycystic Kidney Disease |
|
Micrognathia, Depressed nasal ridge, Protein-losing enteropathy, Hepatoblastoma, Portal hypertens... |
ORPHA:731 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Renal insufficiency, Anteverted nares, Cleft lip, Patent ductus arteriosus, Hi... |
OMIM:251290 |
Frontorhiny |
|
Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplas... |
ORPHA:391474 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Back pain, Kyphosis, Sacroiliac arthritis, Inflammation of the large intest... |
OMIM:106300 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Short stature, Cleft upper lip, Hypoplasia ... |
OMIM:610829 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Abnormal left ventricular function, Macroglossia, Cardiomyopathy, C... |
OMIM:613155 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ves... |
OMIM:617271 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finger, Proximal pla... |
ORPHA:261211 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Single transverse palmar crease, Myocardial infarction, Hip dysplasia, High palate... |
ORPHA:457240 |
Cowden Syndrome 1 |
|
Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Micrognathia, Hypoplasia of the ... |
OMIM:158350 |
Scarf Syndrome |
|
Short neck, Cryptorchidism, Wide nasal base, Hepatocellular adenoma, Abnormal form of the vertebr... |
ORPHA:3134 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Short stature, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate,... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Median cleft lip, Short stature, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate,... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Short stature, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate,... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Short stature, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate,... |
ORPHA:93924 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid... |
OMIM:209900 |
Mogs-Cdg |
|
Wide nose, Thoracic scoliosis, Generalized edema, Edema, Cardiomegaly, Polyhydramnios, Retrognath... |
ORPHA:79330 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Downturned co... |
ORPHA:1299 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Spondyloocular Syndrome |
|
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Unilateral cryptorchidism, Duodenal ul... |
OMIM:605822 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... |
ORPHA:199302 |
Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Anteverted nares, Elongated superior cerebellar peduncle, Stage 5 c... |
OMIM:608629 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Alveolar Echinococcosis |
|
Low back pain, Abnormal pelvis bone morphology, Pulmonary cyst, Abnormal pericardium morphology, ... |
ORPHA:284 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Secundum atrial septal defect, Postnatal ... |
OMIM:620242 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Short stature, Abnormality of the dentition... |
OMIM:615802 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Congenital Myopathy 11 |
|
Decreased fetal movement, Polyhydramnios, Breech presentation, Patent ductus arteriosus, Atrial s... |
OMIM:619967 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Dental crowding, Thoracic scoliosis, ... |
OMIM:620351 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Abnormal p... |
ORPHA:667 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Branchial cyst, Congenital hip dislocation, Branchial fistula... |
OMIM:113650 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate |
OMIM:619452 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Agenesis of cerebellar vermis, Depressed nasal bridge, Postax... |
OMIM:608091 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Ileal atresia, Patent ductus arteriosus, Megacystis, Pyelonephr... |
OMIM:619351 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, P... |
OMIM:192445 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Short stature, Tricuspid stenosis, Ovoid vertebral bodies, Short nose, ... |
OMIM:614185 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
Pai Syndrome |
|
Encephalocele, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal ... |
ORPHA:1993 |
Arthrogryposis And Ectodermal Dysplasia |
|
Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Orofacial clef... |
OMIM:601701 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coron... |
OMIM:118651 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Short stature, Short neck, Cryptorchidism, Coarctation of... |
OMIM:616559 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short stature, Abnormality of the dentition, Micrognath... |
ORPHA:560 |
3-Methylglutaconic Aciduria, Type Iv |
|
Single transverse palmar crease, Cryptorchidism, Biventricular hypertrophy, 3-Methylglutaric acid... |
OMIM:250951 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Short neck, Thick lower lip vermilion, Dental malocclus... |
ORPHA:2563 |
Luo-Schoch-Yamamoto Syndrome |
|
Wide nose, Tricuspid regurgitation, Anteverted nares, Depressed nasal bridge, Small hand, Oligohy... |
OMIM:619460 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Ulnar bowing, Humero... |
OMIM:207410 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Single transverse palmar crease, Rocker bottom foot, Postaxial polyda... |
OMIM:617527 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Atrial septal defect, Depressed nasal bridge, Portal hypertension, Tapered fing... |
OMIM:620005 |
Myasthenic Syndrome, Congenital, 10 |
|
Decreased fetal movement, Tongue atrophy |
OMIM:254300 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Short statur... |
OMIM:619575 |
Cardiofaciocutaneous Syndrome 4 |
|
Short stature, Polyhydramnios, Pectus excavatum, Ventricular septal hypertrophy, Palmoplantar hyp... |
OMIM:615280 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Broad nasal tip,... |
OMIM:618846 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocardia, Anteverted nare... |
ORPHA:220493 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... |
ORPHA:69735 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Dental crowdin... |
ORPHA:261323 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia, Oligohydramnios |
OMIM:615397 |
Neurofibromatosis-Noonan Syndrome |
|
Short stature, Cryptorchidism, Abnormal thorax morphology, Pulmonic stenosis, Dysphagia, Hypertro... |
ORPHA:638 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Micrognathia, Short neck, Patent ductus arterios... |
ORPHA:529962 |
Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Broad ribs, Rhizomelia... |
OMIM:613848 |
Lethal Congenital Contracture Syndrome 2 |
|
Decreased fetal movement, Ventricular septal defect, Edema, Micrognathia, Polyhydramnios, Dilated... |
OMIM:607598 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Prominent nose, Long nose, Sho... |
ORPHA:2636 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, ... |
ORPHA:2470 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis, Dehydration |
ORPHA:79159 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Anteverted nares, Hypoplasia of the maxilla, Thick ve... |
ORPHA:228396 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid... |
ORPHA:2021 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... |
OMIM:615560 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short neck, Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal d... |
ORPHA:99646 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Short stature, Myelomeningocele, Pulmonic stenosis, Facial telangiectasia, Scoliosis, Contracture... |
OMIM:620141 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastroin... |
ORPHA:286 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... |
ORPHA:233 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Hyperphosphaturia, Severe short stature, Choanal atres... |
OMIM:156400 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ... |
OMIM:617798 |
Geleophysic Dysplasia 1 |
|
Short palm, Short metacarpals with rounded proximal ends, Wrist flexion contracture, Anteverted n... |
OMIM:231050 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, High palate, Gastroesophageal reflux, Patent foramen ovale, Hypospadias, Anteverted... |
OMIM:619325 |
Proximal Spinal Muscular Atrophy |
|
Decreased fetal movement, Recurrent infections due to aspiration, Intercostal muscle weakness, El... |
ORPHA:70 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Ventricular septal defect, Short stature, Short neck, Di... |
ORPHA:85194 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midli... |
ORPHA:1791 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteriorly placed anu... |
OMIM:211380 |
Culler-Jones Syndrome |
|
Short stature, Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis |
OMIM:615849 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... |
OMIM:183900 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Congenital Diaphragmatic Hernia |
|
Prominent sternum, Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:2140 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Decreased fetal movement, Toe syndactyly, Rocker bottom foot, Spina bifida, Mi... |
OMIM:616038 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, Dilated cardi... |
OMIM:212112 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A... |
ORPHA:217085 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Exaggerated cupid's bow, Spina bifida, Tapered finger, Broad nasal tip, Cyst of the ductus choled... |
OMIM:619480 |
Polydactyly, Postaxial, Type A8 |
|
Short stature, Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal... |
OMIM:157980 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Ventricular septal de... |
OMIM:613884 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Hammertoe, Talipes equinovarus, Scoliosis, Tongue fasciculations |
OMIM:601596 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Anteverted nares, Depressed nasal bridge, Short stature, Pectus excavatum,... |
OMIM:613563 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Short stature, Absent thumb, Absent radius, Preaxia... |
OMIM:227646 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Shoulder dislo... |
ORPHA:536545 |
Aymé-Gripp Syndrome |
|
Chiari type I malformation, Oligodontia, Clinodactyly of the 5th finger, Depressed nasal bridge, ... |
ORPHA:1272 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Lumbar hyperlordosis, Shoulder flexion contracture, Urinary incontinence, Spinal ... |
OMIM:617114 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Dental crowding, Narrow nose, Hiatus hernia, Micrognathia, Pectus exc... |
OMIM:619329 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth r... |
OMIM:618839 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Abnormal femur morphology, Atrioven... |
ORPHA:324 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Tented upper lip vermilion, Anteverted nares, Single transverse... |
OMIM:618076 |
Xylt1-Cdg |
|
Short stature, Coxa valga, Flared metaphysis, Cleft palate, Growth delay, Short long bone, Thick ... |
ORPHA:370930 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Seve... |
OMIM:231070 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Renal hypoplasia, Abnormal heart morphology, Stillbirth, Abnormal... |
OMIM:276950 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Micrognathia, Prominent palatine ridges, Dandy-Walker malformation, Anteverted nare... |
ORPHA:97297 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Cerebell... |
OMIM:617397 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A... |
ORPHA:217093 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hype... |
OMIM:618835 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal... |
OMIM:610198 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at... |
ORPHA:49827 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Anteverted nares, Single transverse p... |
OMIM:618161 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Esophageal varix, Umbilical hernia, Pulmonic stenosis, Right ventricul... |
OMIM:616028 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus, Scoliosis |
OMIM:616155 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Renal insuff... |
ORPHA:1454 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Ascites, Renal cyst |
OMIM:174050 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Femoral bowing, Anteriorly placed anus, Gastroesophageal reflux, Choanal ste... |
ORPHA:95699 |
Nephronophthisis 14 |
|
Situs inversus totalis, Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease,... |
OMIM:150230 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Pelvic kidney, Cerebellar hypoplasia, Subvalvular aort... |
OMIM:613001 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th fin... |
ORPHA:1439 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Dysphagia |
ORPHA:216873 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Depressed nasal bridge, Hyperlordosis, Congestive heart failure, Glutaric acidu... |
ORPHA:26791 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Micrognathia, Bulbous ... |
OMIM:614501 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
Aapoaiv Amyloidosis |
|
Back pain, Abnormal lung morphology, Left bundle branch block, Sinus bradycardia, Cardiac amyloid... |
ORPHA:439232 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f... |
ORPHA:1449 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Downturned... |
OMIM:619950 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
Hyperparathyroidism, Transient Neonatal |
|
Polyhydramnios, Femoral bowing, Gastroesophageal reflux, Narrow chest, Anteverted nares, Depresse... |
OMIM:618188 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Single naris, Renal cyst, Bell-shaped thorax, Short ribs,... |
OMIM:615636 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Micrognathia, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:96191 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93260 |
Scarf Syndrome |
|
Barrel-shaped chest, Thickened nuchal skin fold, Prominent nasal bridge, Short neck, Cryptorchidi... |
OMIM:312830 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Coxa vara, Mitral va... |
ORPHA:2848 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Angina pectoris, Anteverted nares, Abnormal large intestine morp... |
ORPHA:109 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Dicarboxylic aciduria, Cardiomegaly, Heart blo... |
ORPHA:228308 |
Spastic Paraplegia 16, X-Linked |
|
Urinary incontinence, Hypoplasia of the maxilla, Urinary urgency, Urinary bladder sphincter dysfu... |
OMIM:300266 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret... |
OMIM:617744 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Scolio... |
OMIM:613819 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Ureteral hypoplasia, Microgn... |
OMIM:616258 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Decreased testicular size, Anal ... |
ORPHA:93950 |
Meckel Syndrome, Type 9 |
|
Sonographic non-visualized fetal bladder, Occipital encephalocele, Multicystic kidney dysplasia, ... |
OMIM:614209 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Proteinuria, Umbilical... |
ORPHA:2143 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, Abnormal renal morpho... |
ORPHA:83 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopat... |
ORPHA:445038 |
Joubert Syndrome 27 |
|
Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Cleft upper lip, Aminoaciduria, Arrhythmia, Tetraamelia |
OMIM:273400 |
Legius Syndrome |
|
Short stature, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Nephrolithiasis, Des... |
ORPHA:137605 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Anteverted nares, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Unilatera... |
ORPHA:457284 |
Pycnodysostosis |
|
Short stature, Aplastic clavicle, Persistence of primary teeth, Delayed eruption of primary teeth... |
OMIM:265800 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Paten... |
ORPHA:85276 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Edema, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea... |
OMIM:602579 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus... |
OMIM:616462 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Short stature, Pulmonic stenosis, Brachydactyly |
OMIM:614819 |
Diphallia |
|
Ureteral duplication, Epispadias, Hemivertebrae, Atrial septal defect, Duplicated colon, Bladder ... |
ORPHA:227 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Intestinal malrotation, Ventricular septal defect, Hypoplastic philtrum, Hiatus ... |
OMIM:616682 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate, Chiari mal... |
ORPHA:207 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft pala... |
OMIM:615465 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ... |
OMIM:119800 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c... |
OMIM:616788 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Spinal rigidity, Partial absence of cerebellar vermis, Cleft pala... |
OMIM:613150 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Pectus ex... |
OMIM:617168 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Depressed na... |
ORPHA:647 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Abnormality of the urinary system, Agenesis of cerebellar vermis, Postax... |
OMIM:213010 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Micrognathia, Pectus carinatum, Oligodontia, High palate, Clinodactyly of the 5th finger, Intraut... |
OMIM:210730 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Kyphoscoliosis, Secundum atrial septal defect, Rhizomelic arm shortening, Abnorma... |
ORPHA:96190 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... |
OMIM:616037 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath... |
OMIM:617056 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased overbite, Micropenis |
OMIM:618504 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Oligohydr... |
OMIM:619573 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cleft upper lip, Micrognathia, Cryptorchidism, Meningoencephalocele, Cle... |
OMIM:236670 |
Birt-Hogg-Dube Syndrome 1 |
|
Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcin... |
OMIM:135150 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Prominent na... |
ORPHA:110 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced... |
OMIM:618737 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Cleft palate, Mitral valve prolapse,... |
ORPHA:90354 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Micrognathia, Pectus excavatum, High palate, Patent foramen ovale |
OMIM:619699 |
Sarcosinemia |
|
Hypersarcosinuria, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Postaxial ... |
OMIM:605627 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cer... |
ORPHA:60015 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, Anteverted nares, Sh... |
OMIM:619727 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93259 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Pneumonia, Limited elbow movement, Limited wrist movement... |
OMIM:617809 |
Proteus Syndrome |
|
Pulmonary embolism, Lymphedema, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, A... |
ORPHA:744 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Thin upper lip vermilion, Recurrent respiratory infections, Decreased fetal ... |
ORPHA:398069 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus,... |
ORPHA:2095 |
Schneckenbecken Dysplasia |
|
Micromelia, Polyhydramnios, Lateral clavicle hook, Lymphedema, Short neck, Abnormal form of the v... |
ORPHA:3144 |
Hemochromatosis, Neonatal |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Meningocele, Hip dislocation, Depressed nasal ridge, Absent nasal septal c... |
ORPHA:2003 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... |
ORPHA:2307 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of fingers, ... |
OMIM:175500 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphoscoliosis, Hypoplastic ilia, ... |
OMIM:615349 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Hypo... |
OMIM:619268 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Cerebellar hypoplasia, Polycystic kidney dysplasia, Micrognathia |
OMIM:617562 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Short ... |
OMIM:309801 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Cerebellar vermis atrophy |
ORPHA:163681 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi... |
ORPHA:957 |
Gracile Bone Dysplasia |
|
Short stature, Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Ascites, Ankyloglossi... |
OMIM:602361 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Myopathy With Extrapyramidal Signs |
|
Tented upper lip vermilion, Anteverted nares, Ventricular septal defect, Short neck, Growth delay... |
OMIM:615673 |
Lipoid Proteinosis |
|
Recurrent respiratory infections, Nasal polyposis, Abnormal oral mucosa morphology, Abnormality o... |
ORPHA:530 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Kyphoscoliosis, Bilateral cryptorchidism, Congestive heart failure, Bulb... |
OMIM:617403 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Hypospadias, Short stature, Missing ribs, Postnatal ... |
OMIM:206900 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Renal cyst, Abnormal he... |
ORPHA:400 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Intrauterine growth retardation, Sho... |
ORPHA:1775 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverted nares, Prominent n... |
ORPHA:475 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Depressed nasal br... |
OMIM:618019 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Proteinuri... |
OMIM:243910 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Depressed nasal bridge, Short stature, Short neck, Secundum... |
OMIM:601321 |
Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Gastritis, Glomerulonephritis, Vasculitis, Hydrops fetalis, Colitis, Recurre... |
ORPHA:3261 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlar... |
ORPHA:75249 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Atrial septal defect, Ureteropelvic junction obstruction, Exaggerated cupi... |
OMIM:300896 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrow... |
ORPHA:1839 |
Adnp Syndrome |
|
Single transverse palmar crease, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger... |
ORPHA:404448 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema, Absence of re... |
OMIM:120330 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Micrognathia, Finger clinodactyly, Premature arteriosclero... |
ORPHA:79474 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Hyperlordosis, Intrinsic hand muscle atrophy, Tongue fasciculat... |
OMIM:620285 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge... |
OMIM:119500 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Patent ductus ar... |
ORPHA:3241 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Short stature, Cleft upper l... |
OMIM:147250 |
Barth Syndrome |
|
Mandibular prognathia, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, ... |
OMIM:302060 |
Larsen Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Short stature, Cryptorchidism, Accessory carpal bones,... |
ORPHA:503 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia, Atrial septa... |
OMIM:620327 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large placenta, Abnormal... |
ORPHA:254534 |
Agel Amyloidosis |
|
Tongue atrophy, Proteinuria, Edema, Respiratory tract infection, Xerostomia, Stage 5 chronic kidn... |
ORPHA:85448 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Dental enamel pits, Gingival fibromatosis, Cardiac rhabdomyoma, R... |
OMIM:191100 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Polyhydramnios |
ORPHA:3346 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Short metatarsal, High... |
ORPHA:1772 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Short neck, Downturned corners of mouth, Narrow ches... |
OMIM:264090 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Lumbar hyperlordosis, Sandal gap, Broad hallux, Dental crowd... |
OMIM:616078 |
Dpagt1-Cdg |
|
Prolonged QT interval, Decreased fetal movement, Arachnodactyly, Fetal akinesia sequence, Abnorma... |
ORPHA:86309 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Short stature |
OMIM:210350 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Hip dysplasia, ... |
OMIM:613404 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Ectopic kidney, Pectus carinatum, High palate, Short phil... |
ORPHA:3063 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... |
ORPHA:2241 |
Trichothiodystrophy |
|
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchid... |
ORPHA:33364 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:782 |
Lathosterolosis |
|
Toe syndactyly, Foam cells with lamellar inclusion bodies, Anteverted nares, Micrognathia, Lumbos... |
OMIM:607330 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Rectal prolapse, Premature rupture of membranes, Shou... |
ORPHA:287 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... |
OMIM:617610 |
Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... |
OMIM:601707 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Flat... |
OMIM:610828 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Short stature, Hydrops fetalis, Micropenis, Hypertrophic cardiomyopathy |
OMIM:613673 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... |
ORPHA:107 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Short stature, Edema, Premature birth, Cryptorchidism, Chronic kidney disease, Renal... |
ORPHA:97362 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomen... |
OMIM:611773 |
Acromegaly |
|
Mandibular prognathia, Wide penis, Widely spaced teeth, Macrodactyly, Tapered finger, Long penis,... |
ORPHA:963 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormality of t... |
OMIM:607823 |
Craniolenticulosutural Dysplasia |
|
High palate, Gastroesophageal reflux, Narrow chest, Bifid uvula, Anteverted nares, Short stature,... |
OMIM:607812 |
Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Pulmonary artery stenosis, Short philtrum, Umbilical hernia |
OMIM:617237 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... |
OMIM:614473 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the pons, Hypoplasia of the maxilla, Retinal t... |
OMIM:620157 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hemat... |
OMIM:619525 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tented upper lip vermilion, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen... |
OMIM:619424 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Hypospadias, Short stature, Submucous cleft hard palate, Aortic root aneurysm... |
OMIM:618891 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Cryptorchidism, Deep philtrum, A... |
ORPHA:438213 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Tricusp... |
ORPHA:508542 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Depressed nasal bridge, Postaxial polydactyly, Cryptorchidism, Breech presentation, Proximal rena... |
OMIM:615824 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, D... |
ORPHA:89842 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary teeth, Hypopla... |
OMIM:620099 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum |
ORPHA:93945 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Hypospadias, Anteverted nares, Narrow nasal tip, Tapered finger, Abnorm... |
ORPHA:477993 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Hypotension, Renotubular dysgene... |
OMIM:267430 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Micrognathia, Hypo... |
OMIM:209885 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Short neck, High palate, Bilateral single transverse p... |
ORPHA:261112 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism... |
ORPHA:2658 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Renal hypoplasia, Nephrocalcinosi... |
OMIM:617913 |
Familial Visceral Myopathy |
|
Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Micrognathia, Anteve... |
ORPHA:2604 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia... |
ORPHA:495875 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Polyhydramnios, Short metatarsal, Tibial bowing, Tarsometatarsal synost... |
OMIM:600383 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Short neck, High palate, Bifid uvula, Wide n... |
OMIM:620330 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol... |
ORPHA:2673 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Severe short stature, Thenar muscle atrophy, Bifid nasal tip, Horseshoe kidney, Bifid nose, Cross... |
ORPHA:2213 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Cleft pa... |
ORPHA:1934 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Sotos Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Pedal edema, Gastroes... |
ORPHA:821 |
Choreoacanthocytosis |
|
Dilated cardiomyopathy, Temporomandibular joint crepitus, Dysphagia, Protruding tongue |
ORPHA:2388 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Cor pulmonale... |
OMIM:158310 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Depressed nasal bridge, Anteverted nares, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Laurence-Moon Syndrome |
|
Micropenis, Short stature, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Hypoplastic left he... |
OMIM:619562 |
Cowden Syndrome |
|
Abnormal penis morphology, Short stature, Abnormality of the kidney, Pectus excavatum, Abnormal c... |
ORPHA:201 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars... |
ORPHA:85199 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Portal hypertension, Hiatus he... |
OMIM:610199 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, M... |
OMIM:614083 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Breech presentation, Retinal hemorrhage, Growth delay, Hy... |
OMIM:614653 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Cleft palate, Micrognathia |
OMIM:243440 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Polyhydramnios, Cardiomegaly, Subchorionic septal cy... |
ORPHA:116 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Wide nose, Palpebral edema, Macrodactyly, Dysuria, Tapered fing... |
ORPHA:314769 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
17Q11 Microdeletion Syndrome |
|
Bowing of the legs, Abnormal internal carotid artery morphology, Abnormal lung morphology, Cerebr... |
ORPHA:97685 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Short stature, Malabsorption, Abnormal lung morphology, Recurrent pneumonia, Glossoptosis |
ORPHA:47 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Short stature, Recurren... |
ORPHA:209905 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Depressed nasal bridge, Short stature, H... |
OMIM:618325 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Abnormality of upper lip vermillion, Sydney crease, Sandal gap, Abnormality of the... |
ORPHA:506358 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Sacral dimple, Short stature, Camptodactyly of finger, Micromelia, Abno... |
ORPHA:3206 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Downturned corners of mouth, Anteriorly placed anus, Atrial sept... |
OMIM:243800 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cup... |
OMIM:619306 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Ventricular septal defect, Renal agenesis, Short stature, Absent th... |
OMIM:227645 |
Joubert Syndrome 23 |
|
Polydactyly, Cerebellar dysplasia |
OMIM:616490 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Narrow mouth, Wide nasal bridge, Cleft palate, Horseshoe kidney, Hypod... |
ORPHA:1973 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Dilated cardiomyopathy, Myocardial fibrosis, Cerebellar hypoplasi... |
OMIM:253800 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, U... |
ORPHA:101085 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Abnormal cerebellum morpho... |
OMIM:211530 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Arachnodactyly, Pulmonic stenosis, Scoliosis |
OMIM:617600 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Hypospadias, Depressed nasa... |
OMIM:619479 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Concave nasal ridge... |
OMIM:602482 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Single transverse palmar crease, Micrognathia, Pectus carinatum, Narrow chest, Bifid uvula, Dislo... |
OMIM:130070 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pneumonia, Pericardial effusion, D... |
ORPHA:26793 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Gastrointestinal inflammation, Gastroesophageal reflux, Urinary bladder sphin... |
ORPHA:79408 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric ac... |
OMIM:557000 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Ketonuria, Dilated cardiomyopathy... |
OMIM:619167 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebr... |
OMIM:109120 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Amniotic constriction ring, Lip pit |
ORPHA:1072 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor... |
OMIM:184253 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Transient ischemic attack, Depressed nasal bridge, Lymphedema, ... |
OMIM:600268 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong... |
ORPHA:1880 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... |
ORPHA:369929 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Premature birth, Polyuria, Edem... |
OMIM:602522 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, S... |
ORPHA:2211 |
Chand Syndrome |
|
Short fifth metatarsal, Hydroureter, Depressed nasal bridge, Atelectasis, Cleft palate, Agenesis ... |
ORPHA:1401 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:157 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Growth delay, Short nose, Retro... |
OMIM:234050 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Mild postnatal growth retardation, Hydrops fetalis |
OMIM:224120 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Micrognathia, Pectu... |
ORPHA:60030 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Edema, Right ventricul... |
ORPHA:100078 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary ... |
ORPHA:2363 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Palpebral edema, Micromelia, Short iliac bones, Horizontal ribs, Short... |
ORPHA:3003 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ... |
ORPHA:522077 |
Gaucher Disease, Type I |
|
Epistaxis, Vertebral compression fracture, Abnormal pulmonary interstitial morphology, Hypertensi... |
OMIM:230800 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine |
ORPHA:51208 |
Bdv Syndrome |
|
Micrognathia, Cryptorchidism, Delayed puberty, Atrial septal defect, Micropenis |
OMIM:619326 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Fetal pyelectasis |
OMIM:301058 |
Hartnup Disease |
|
Abnormal urinary color, Short stature, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoac... |
ORPHA:2116 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery, Aganglionic megacolon, Abnormality of the kidney |
ORPHA:895 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... |
OMIM:619471 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Gingival fibro... |
OMIM:613254 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Cogan Syndrome |
|
Aortic regurgitation, Vasculitis, Large vessel vasculitis |
ORPHA:1467 |
Unilateral Ocular Duplication |
|
Encephalocele, Polyhydramnios, Median cleft lip, Cleft palate |
ORPHA:3374 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Sacral dimple, Short stature, Tapered ... |
OMIM:619539 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia |
ORPHA:140936 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Anteverted nares, Polyhydramnios, Micrognathia, Broad nasal tip, Pectus... |
OMIM:618548 |
Von Hippel-Lindau Disease |
|
Back pain, Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocard... |
ORPHA:892 |
Pmm2-Cdg |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Lymphedema, Intracranial hem... |
ORPHA:79318 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary... |
ORPHA:555874 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Abnormality of the kidney |
OMIM:613464 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Unilateral renal agenesis... |
OMIM:620024 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Elevated urinary catecholamine level, Kyphoscoliosis, Elevated urinary nor... |
ORPHA:653 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Unilateral renal a... |
ORPHA:141099 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Gaucher Disease, Type Ii |
|
Trismus, Gastroesophageal reflux, Dysphagia, Bronchiolitis, Recurrent aspiration pneumonia, Doubl... |
OMIM:230900 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Neuropathic spinal arthropathy, Tongue atrophy, Hammertoe, Hip dysplasia, Ton... |
ORPHA:99949 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Renal neop... |
ORPHA:538 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Micrognathia, Epispadias, Abnormality of the anus, Abnormal penis morphology, Tricuspid regurgita... |
ORPHA:2556 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Postnatal growth retardation, Renal cyst, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Joubert Syndrome 40 |
|
Depressed nasal bridge, Postaxial polydactyly |
OMIM:619582 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... |
ORPHA:2237 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no... |
OMIM:229400 |
Bazex-Dupre-Christol Syndrome |
|
Low hanging columella, Underdeveloped nasal alae, Narrow nasal ridge, Furrowed tongue |
OMIM:301845 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Sh... |
OMIM:618332 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:620211 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Severe short stature, Nonimmune hydro... |
OMIM:256540 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect, Short neck, Postnatal growth retardation, Short thumb, Nephroblastoma |
OMIM:610832 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Atelosteogenesis Type Iii |
|
Polyhydramnios, Short tubular bones of the hand, Micrognathia, High palate, Short tibia, Vertebra... |
ORPHA:56305 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Dilation of Virchow-Robin spaces, Tricuspid regurgitation, Micrognathia, Hypoph... |
ORPHA:73223 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... |
ORPHA:805 |
Melkersson-Rosenthal Syndrome |
|
Edema, Periorbital edema, Cheilitis, Oligosacchariduria, Furrowed tongue, Macroglossia |
ORPHA:2483 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Short stature, Lymphedema, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Medial calcification of large arteries, Short stature, Congestive heart failure,... |
ORPHA:391487 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal dentate nucleus morphology, Ventricular septal defect, Congestive he... |
ORPHA:506 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Tricuspid regurgitation, Atelectasis, Bronchiectasis, Recurrent lower r... |
OMIM:620233 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Decreased fetal movement, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Kyphoscolio... |
OMIM:614557 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Aspiration pneu... |
ORPHA:646 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Bronchitis, Myocarditis, Urethritis, Endocarditis, Dehydration, Rhinitis, A... |
ORPHA:2552 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Recurrent respiratory infections, Beaking of vertebral bodies, Aspartylglu... |
ORPHA:93 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Crouzon Syndrome |
|
Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Hypoplasia of the maxi... |
OMIM:123500 |
Hepatoerythropoietic Porphyria |
|
Erythrodontia, Nonimmune hydrops fetalis, Edema, Red urine, Red-brown urine, Abnormality of the a... |
ORPHA:95159 |
Rhyns Syndrome |
|
Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short... |
OMIM:602152 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Loss of Purkinje cells in the cerebellar vermis, Dysphagia |
ORPHA:276198 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Delayed eruption of teeth, Mandibular prognathia, Wide nose, Broad hallux, Dental ... |
OMIM:614188 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Narrow mouth,... |
ORPHA:54028 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Multiple pulmonary cysts, Ventricular septal defect, Depressed nasal bridge, P... |
OMIM:619418 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the de... |
ORPHA:158668 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartoma, Shortened QT interval, N... |
ORPHA:99880 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Depressed nasal bridge, Renal cyst |
OMIM:614862 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Aortic valve atresia, Anterior... |
OMIM:220111 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Single transverse palmar crease, Short... |
OMIM:614947 |
Parathyroid Carcinoma |
|
Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartoma, Shortened QT interval, N... |
ORPHA:143 |
Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med... |
OMIM:142946 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Micrognathia, Abnormal left ventricular function, Aminoaciduria,... |
OMIM:619991 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Short stature, Arterial rupture, Scoliosis |
OMIM:619115 |
Congenital Erythropoietic Porphyria |
|
Erythrodontia, Nonimmune hydrops fetalis, Edema, Increased stool urobilinogen concentration, Red-... |
ORPHA:79277 |
Septooptic Dysplasia |
|
Short stature, Polydactyly, Short finger |
OMIM:182230 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Cryptorchidism, Ventricular septal defect |
OMIM:619908 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal b... |
ORPHA:920 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Urinary incontinence... |
ORPHA:466768 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nas... |
ORPHA:2399 |
Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Weakness of long finger extensor muscles, Spinal canal stenosis, Polycys... |
ORPHA:35125 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Hand muscle weakness, Ar... |
ORPHA:99956 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Congestive heart failure, Cheilitis, Pedal edema, Geographic tongue |
ORPHA:247353 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Hypoplasia of the maxilla, Downturned corners of mouth, Irregular verte... |
OMIM:259050 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Carney Complex |
|
Neoplasm of the stomach, Leydig cell neoplasia, Ovarian serous cystadenoma, Neoplasm of the rectu... |
ORPHA:1359 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Gastro... |
ORPHA:436252 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Esophag... |
ORPHA:84081 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Scoliosis, Atrial septal defect, Re... |
ORPHA:457351 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Cardiomegaly, Cryptorchidism, Vesicoureteral reflux, Renal cortical cysts, Nephro... |
OMIM:130650 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Acrodermatitis Enteropathica |
|
Short stature, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Bicuspid aortic valve, Depressed nasal bridge, Short stature, Secundum atrial septal de... |
OMIM:613355 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia, Growth delay, Short stature |
ORPHA:93947 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Cheilitis, Gastroesophageal... |
ORPHA:90045 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased... |
ORPHA:275766 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Plague |
|
Chapped lip, Tachycardia, Edema, Hematemesis, Abnormality of the elbow, Enterocolitis, Endocardit... |
ORPHA:707 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Short stature, Kyphoscoliosis, Kyphosis, Metaphys... |
OMIM:259770 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prol... |
ORPHA:2396 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis |
OMIM:266200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... |
ORPHA:93111 |
Choanal Atresia |
|
Nasal congestion, Recurrent respiratory infections, Chronic sinusitis, Polydactyly |
ORPHA:137914 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Aspartylglucosaminuria, Anteverted nares, Depressed nasal bridg... |
OMIM:208400 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Wide nasal bridge, Renal cyst, Epiphyseal stippling, Convex nasal ridge |
OMIM:601539 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn... |
OMIM:618061 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Severe short stature, Anteverted nares, Edema, Lymphedema, Wide nasal bridge, Thick ve... |
ORPHA:2526 |
Diamond-Blackfan Anemia 5 |
|
Short stature, Ventricular septal defect, Hypospadias |
OMIM:612528 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:18 |
Odontoonychodermal Dysplasia |
|
Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Conical i... |
OMIM:257980 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Depressed nasal ridge, Growth delay, Decreased cervical spine mobility, Polyd... |
ORPHA:95494 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Mpdu1-Cdg |
|
Renal cortical cysts, Thin vermilion border, Prominent frontal sinuses |
ORPHA:79323 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Glossitis, Angular cheilitis, Proteinuria |
ORPHA:35858 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Hereditary Elliptocytosis |
|
Postnatal growth retardation, Hydrops fetalis |
ORPHA:288 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Mody |
|
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Intrauter... |
ORPHA:552 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too... |
OMIM:305100 |
Interstitial Nephritis, Karyomegalic |
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Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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11 pairs of ribs, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of cerebellar v... |
OMIM:615287 |
Joubert Syndrome 5 |
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Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Axial Osteomalacia |
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Renal cyst |
OMIM:109130 |
Hughes-Stovin Syndrome |
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Pulmonary embolism, Vasculitis, Arterial stenosis, Pedal edema, Pulmonary artery aneurysm, Pulmon... |
ORPHA:228116 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
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Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
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Hepatic cysts, Renal cyst |
OMIM:617874 |
Psoriasis 14, Pustular |
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Geographic tongue, Furrowed tongue |
OMIM:614204 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hydroureter, Intestinal malrotation, Portal hypertension, Megacystis, Hydronephrosis, Microcolon,... |
OMIM:619431 |
Homozygous Familial Hypercholesterolemia |
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Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Visceral Myopathy 1 |
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Intestinal pseudo-obstruction, Aganglionic megacolon, Polyhydramnios, Megacystis, Hydronephrosis,... |
OMIM:155310 |
Ankyloglossia With Or Without Tooth Anomalies |
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Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
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Microdontia, Elbow flexion contracture, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Diamond-Blackfan Anemia 4 |
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Atrial septal defect, Growth delay, Short stature |
OMIM:612527 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Oral mucosal blisters, Growth delay, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
Duodenal Atresia |
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Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia |
ORPHA:1203 |
Orotic Aciduria |
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Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
Caroli Disease |
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Cholangiocarcinoma, Portal hypertension, Esophageal varix, Polycystic kidney dysplasia, Ascites |
ORPHA:53035 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
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Ankyloglossia, Scoliosis |
OMIM:619352 |
Von Hippel-Lindau Syndrome |
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Pancreatic cysts, Pulmonary capillary hemangiomatosis, Hypertension, Renal cell carcinoma, Epidid... |
OMIM:193300 |
Congenital Disorder Of Glycosylation, Type If |
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Thin vermilion border, Renal cortical cysts |
OMIM:609180 |
Ebstein Anomaly |
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Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydroureter, Polyhydramnios, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephr... |
OMIM:619362 |
Holoprosencephaly 1 |
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Median cleft lip and palate, Short stature, Proboscis, Cerebellar hypoplasia, Aplasia of the nose... |
OMIM:236100 |
Renal Cysts And Diabetes Syndrome |
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Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Medullary cystic kidney disease 2 |
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Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Congenital Pulmonary Valvar Stenosis |
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Atrial septal defect |
ORPHA:3189 |
Immunodeficiency 96 |
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Conjunctival telangiectasia, Recurrent lower respiratory tract infections, Multicystic kidney dys... |
OMIM:619774 |
17Q12 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Renal insufficiency, Short stature, Renal hypoplasia/aplasia, Crypt... |
ORPHA:261265 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Multiple renal cysts, Wrist flexion contracture, ... |
OMIM:618733 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D... |
ORPHA:3044 |
Axenfeld-Rieger Syndrome, Type 1 |
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Thin upper lip vermilion, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridg... |
OMIM:180500 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Atrial septal defect, Bulbous nose, Right atrial enlargement |
OMIM:615219 |
Watson Syndrome |
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Short stature, Pulmonic stenosis, Pectus carinatum |
OMIM:193520 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Caroli Syndrome |
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Cholangiocarcinoma, Abnormality of the kidney, Portal hypertension, Hematemesis, Esophageal varix... |
ORPHA:480520 |
Craniofacial-Deafness-Hand Syndrome |
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Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... |
OMIM:122880 |
Glucagonoma |
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Gastrointestinal hemorrhage, Intestinal obstruction, Abnormal gastrointestinal motility, Steatorr... |
ORPHA:97280 |
Unilateral Polymicrogyria |
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Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Pseudobulbar paralysi... |
ORPHA:268943 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Ileus, Wide nasal bridg... |
ORPHA:163746 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation... |
OMIM:606721 |
Mednik Syndrome |
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Jejunal atresia, Growth delay, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
Pachyonychia Congenita 3 |
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Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l... |
OMIM:615726 |
Retinitis Pigmentosa 74 |
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Abnormal renal morphology, Polydactyly |
OMIM:616562 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
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Abnormality of the pulmonary artery |
ORPHA:1065 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
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Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Aprosencephaly And Cerebellar Dysgenesis |
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Micrognathia, Poorly formed metencephalon, Talipes equinovarus, Bifid uvula, Cerebellar dysplasia |
OMIM:601374 |
Meconium Ileus |
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Microcolon, Meconium ileus |
OMIM:614665 |
Monomelic Amyotrophy |
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Distal upper limb amyotrophy, Abnormality of the upper limb |
ORPHA:65684 |