Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Abnormal heart morphology, Uppe... |
ORPHA:294975 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino... |
ORPHA:85174 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon... |
ORPHA:2876 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Low-set, posteriorly rotated ... |
ORPHA:2311 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Prominent nasal bridge, Urinary incontinence, Single transverse palmar... |
OMIM:617927 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Dermatoglyphic r... |
OMIM:211960 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Increased... |
OMIM:613630 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Bowing of the long bones, Ventricular septal defect, Rhizomelia, Proximal placement ... |
ORPHA:93267 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... |
OMIM:618845 |
Caudal Duplication |
|
Omphalocele, Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/apla... |
ORPHA:1756 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma... |
OMIM:201000 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Depressed nasal ... |
OMIM:618142 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... |
ORPHA:2476 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Bilateral single transverse palmar creases, Congenital diaphragmatic herni... |
ORPHA:1120 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Clinodactyly of the 5th finger, ... |
ORPHA:1918 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transpositio... |
OMIM:231060 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
Acalvaria |
|
Omphalocele, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormal lung lobation, Hol... |
ORPHA:945 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... |
ORPHA:2141 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Micrognathia, Spina bifida occulta, Posterolateral diaphragmatic... |
ORPHA:2437 |
Miller-Dieker Syndrome |
|
Omphalocele, Sacral dimple, Anteverted nares, Clinodactyly of the 5th finger, Nephropathy, Short ... |
ORPHA:531 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morpho... |
ORPHA:1797 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum mo... |
ORPHA:2345 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Synophrys, Atrial septal defect, Pulmonary artery atresia, Patent foramen... |
OMIM:618316 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fusion, Spina... |
OMIM:109400 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting the phalanges of the hand,... |
ORPHA:2990 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Missing ribs, Microgn... |
OMIM:220210 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co... |
ORPHA:1988 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Marfan Syndrome |
|
Limited elbow movement, Pectus carinatum, Emphysema, Arachnodactyly, Dilatation of an abdominal a... |
ORPHA:558 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... |
ORPHA:1354 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial po... |
OMIM:617895 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocard... |
OMIM:613686 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, H... |
OMIM:601357 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Synophrys, Hemivertebrae, Narrow chest, Atri... |
OMIM:213980 |
Pentalogy Of Cantrell |
|
Omphalocele, Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... |
ORPHA:1335 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Posterior rib fusion, Atri... |
OMIM:265380 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Micrognathia, Postaxial... |
OMIM:617866 |
C Syndrome |
|
Omphalocele, Short metacarpal, Toe syndactyly, Ventricular septal defect, Anteverted nares, Micro... |
OMIM:211750 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Kyp... |
OMIM:614815 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of... |
OMIM:601389 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Anteverted nares, Ventricular septal defect, Renal agenesis, Br... |
OMIM:615583 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Unilateral brachydactyly, Hemivert... |
OMIM:173800 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... |
OMIM:603194 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Short neck, Short nose, Abnormal vertebral morphology |
ORPHA:2015 |
Trisomy 1Q |
|
Microretrognathia, Omphalocele, Wide nose, Multicystic kidney dysplasia, Ventricular septal defec... |
ORPHA:261344 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat... |
OMIM:155050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Kagami-Ogata Syndrome |
|
Omphalocele, Atrial septal defect, Inguinal hernia, Long clavicles, Ventricular septal defect, Di... |
OMIM:608149 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Sacral dimple, Scapular winging, Depressed nasal bridge, An... |
ORPHA:1327 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Pect... |
ORPHA:3268 |
Recombinant Chromosome 8 Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Patent ductus ... |
OMIM:179613 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vert... |
OMIM:608681 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Bowing of the long bones, Micr... |
ORPHA:2484 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Short n... |
OMIM:236500 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Short ne... |
OMIM:263210 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Abnormal... |
ORPHA:1926 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper... |
ORPHA:64755 |
Schisis Association |
|
Omphalocele, Encephalocele, Renal agenesis, Congenital diaphragmatic hernia, Micromelia, Spina bi... |
ORPHA:63862 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Recurrent respiratory infections, Vertebral fusion, Block vertebrae, Abnormal odontoid... |
OMIM:277300 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Renal cyst,... |
ORPHA:1692 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid valve morphology,... |
ORPHA:1507 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Malar... |
ORPHA:217340 |
Chromosome 9P Deletion Syndrome |
|
Short neck, Micrognathia, Atrial septal defect, Micropenis, Long toe, Depressed nasal bridge, Ant... |
OMIM:158170 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Abnormal cardiac s... |
ORPHA:2370 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Hernia o... |
ORPHA:1277 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... |
ORPHA:2369 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Encephalocele, Finger syndactyly, Ventric... |
ORPHA:1908 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Epicanthus, Short neck, Synophrys, Rib fusion, Hemivertebrae, ... |
ORPHA:1394 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
Marfan Syndrome |
|
Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contracture, Pectus carinatu... |
OMIM:154700 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Aqueductal s... |
ORPHA:3035 |
Meester-Loeys Syndrome |
|
Arachnodactyly, Mitral valve prolapse, Cervical spine instability, Ascending tubular aorta aneury... |
OMIM:300989 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Bicuspid aortic valve, Anteverted nares, Broad hallux, Broad nasal t... |
OMIM:618529 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Hiatus hernia, Recurren... |
OMIM:304050 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Omphalocele, Abnormal lung lobation, Abnormal rib cage morphology, Eye... |
OMIM:217100 |
Vacterl/Vater Association |
|
Omphalocele, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morpholog... |
ORPHA:887 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... |
OMIM:228520 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thora... |
OMIM:615633 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... |
ORPHA:2756 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Micrognathia, Renal hypop... |
ORPHA:1834 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, ... |
OMIM:269860 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasi... |
ORPHA:1166 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Arachnodactyly, Abnormal pinna morphology, Congenital diaphragmatic hernia, Arte... |
OMIM:614437 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, P... |
OMIM:192350 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers... |
OMIM:617022 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Depressed nasal ridge, ... |
OMIM:613885 |
Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
Cloacal Exstrophy |
|
Omphalocele, Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/apl... |
ORPHA:93929 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Posteriorl... |
OMIM:264480 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Mult... |
ORPHA:2092 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arachnodactyly, Arterial tortuosity, Descending thoracic aorta aneurysm, P... |
OMIM:609192 |
Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis |
OMIM:614464 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphol... |
ORPHA:371428 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Short nose, Depressed nasal ridge |
ORPHA:1906 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve... |
OMIM:618961 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Hyperlordosis, Dep... |
ORPHA:2831 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Narrow pelvis bone, Multiple renal cysts, Absent or m... |
ORPHA:66637 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Clinodactyly, Small hand, Short foot, Short 5th finger, Cubitus valgus, Short nose |
OMIM:300577 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... |
ORPHA:166272 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Hypospadias, Broad hallux, 1-3 toe syndactyly, Preaxial ha... |
OMIM:175700 |
Trisomy 20P |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, H... |
ORPHA:261318 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Atrial septal d... |
OMIM:274000 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Thora... |
ORPHA:508498 |
Trigonocephaly 1 |
|
Omphalocele, Long penis, Wide nasal bridge, Lumbar hemivertebrae, Short nose |
OMIM:190440 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... |
OMIM:306955 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormal cardiac septum morphology, Scoliosis... |
ORPHA:1937 |
Iniencephaly |
|
Omphalocele, Encephalocele, Rhizomelia, Renal agenesis, Congenital diaphragmatic hernia, Hyperlor... |
ORPHA:63259 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus ar... |
ORPHA:261120 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Abnormal lung lobation, Atrial septal defect, Clinodactyly of t... |
OMIM:607872 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Micrognathia, Vesicoureteral reflux, Pulmonary artery atresi... |
OMIM:616894 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Prominent nose, Short neck, Microgna... |
OMIM:609625 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Mi... |
OMIM:145420 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Short tibia, Micr... |
OMIM:616300 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, Micrognathia, Patent ductus arteriosus, Wide n... |
ORPHA:3304 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Lateral clavicle hook, Preaxial pol... |
OMIM:615503 |
Orofaciodigital Syndrome Xvii |
|
Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Central Y-shaped metacarpal, ... |
OMIM:617926 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis |
ORPHA:1450 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Congenital diaphragmatic hernia, Clino... |
OMIM:601163 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Rhiny |
|
Short nose, Anteverted nares, Inguinal hernia |
OMIM:180360 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Hemivertebrae, Finger clinodactyly, En... |
ORPHA:99776 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Epicanthus, Tethered cord, Mitral atresia, Hearing impairment, Patent ductus arteriosus, Clinodac... |
OMIM:618164 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Truncus arteriosus, Prominent nasal bridge... |
ORPHA:401935 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short... |
ORPHA:1707 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Wide nasal bridge |
ORPHA:3366 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Hydroc... |
OMIM:241800 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Metatarsus valgus, Radial devia... |
ORPHA:1388 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentation defect, C... |
OMIM:611209 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kypho... |
OMIM:603387 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2635 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology... |
ORPHA:1919 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Abnormal pinna morphology, Sacr... |
OMIM:614175 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Micromelia, Short neck, Aplastic clavicle, Congenital diaphragmatic herni... |
OMIM:616546 |
3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Knee flexion contracture, Atrial septal defect, Broad hallux, Tapere... |
ORPHA:435638 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Micropha... |
OMIM:618454 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... |
ORPHA:392 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Hypospadias, ... |
ORPHA:171839 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Synophrys, Atrial septal defect, Clinodactyly of the 5th finger, Con... |
OMIM:257920 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Small hand, Abnormal fe... |
ORPHA:969 |
Pulmonary Atresia With Intact Ventricular Septum |
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Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Depressed nasal bridge, Rhizomelia, Short neck, Micrognathia, Kyphosis, Abnormalit... |
ORPHA:3098 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Long toe, Inguinal hernia, Flexion contracture of finger, Depressed nasal bridge, An... |
ORPHA:254528 |
Triploidy |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Short neck, Hydro... |
ORPHA:3376 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly |
ORPHA:85203 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Transposition of th... |
ORPHA:1913 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus |
OMIM:258320 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr... |
ORPHA:185 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing r... |
ORPHA:3186 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hearing abnormality, Postaxial hand polydacty... |
ORPHA:2935 |
Maternal Phenylketonuria |
|
Anteverted nares, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Cli... |
ORPHA:2209 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Upslanted p... |
OMIM:615761 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... |
ORPHA:2091 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Hypoplasia of th... |
OMIM:136760 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus, Hypospadias |
ORPHA:141333 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Omphalocele, Spina bifida, Congenital diaphragmatic ... |
ORPHA:991 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Post... |
ORPHA:83473 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly,... |
OMIM:601355 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Anteverted nares, Preaxial hand polydactyly, Duplication o... |
OMIM:263630 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog... |
ORPHA:254534 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Optic disc coloboma, Rib fusion, Optic atrophy, Sma... |
ORPHA:50 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Conductive hearing impairment, Sensorineural heari... |
ORPHA:261197 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Cervical cord compression, A... |
ORPHA:79345 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Depressed na... |
ORPHA:1458 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, C... |
OMIM:613091 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnor... |
ORPHA:2021 |
3C Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Hemivertebrae, Abnormal tricuspid valve morphology... |
ORPHA:7 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Patent... |
OMIM:313850 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip... |
OMIM:601927 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, Ves... |
OMIM:617271 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Flexion contracture, Hemivertebrae, Abnormal aortic ... |
ORPHA:96334 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Micrognathia, Kyphosis, My... |
ORPHA:1393 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Inguinal hernia, Congenital hip dislocation, Short neck, Clinodac... |
ORPHA:217385 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Pectus carinatum, Right ventricular dilatation, ... |
OMIM:619472 |
Acrocephalopolydactyly |
|
Short neck, Abnormal renal morphology, Depressed nasal ridge, Short long bone, Limb undergrowth, ... |
ORPHA:221054 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... |
OMIM:615993 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Holoprosencephaly, Hernia, Atrial septal defect, Bilateral singl... |
ORPHA:3380 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Holoprosencephaly, Distal shortening of limbs, Syndactyly,... |
OMIM:146510 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Downslanted palpebral fissures, Postaxial pol... |
OMIM:612913 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Conductive hearing impairment, Chronic otitis media, Abnormal atrial arra... |
ORPHA:244 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Humeroradial s... |
OMIM:134780 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Atrial septal defect, Atrioventricular c... |
OMIM:600373 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Low-set... |
OMIM:612946 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... |
ORPHA:1278 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Inguinal hernia, Postaxial hand polydactyly, Recurrent upper re... |
OMIM:300209 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Omphalocele, Sacral dimple, Inguinal hernia, Anteverted nares, Single ... |
OMIM:247200 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Highly arched eye... |
OMIM:614424 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Short neck, Progr... |
ORPHA:1716 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Ventricular septal defect, Optic nerve hypoplasia, Rocker bottom foot, Coxa valga, P... |
OMIM:301056 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, M... |
OMIM:612651 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital... |
ORPHA:397715 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Spina bifida, Abnormal nasal morphology, Deviation of finger, Vertebral segmenta... |
ORPHA:1104 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Recurrent lo... |
OMIM:618254 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Telecanthus, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Sh... |
OMIM:617102 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Mandibular aplasia, Short nose... |
ORPHA:1832 |
Sonoda Syndrome |
|
Ventricular septal defect, High axial triradius, Depressed nasal bridge |
OMIM:270460 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly |
OMIM:607539 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Abnormal pinna mo... |
ORPHA:477817 |
Achondrogenesis Type 1B |
|
Anteverted nares, Femoral hernia, Micromelia, Micrognathia, Short neck, Abnormal rib morphology, ... |
ORPHA:93298 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasal ridge, Metaphys... |
OMIM:300863 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Con... |
ORPHA:373 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Short thumb, Capitate-hamat... |
OMIM:102510 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Myelomening... |
ORPHA:1914 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Inguinal hernia, Flexion contracture, Hip dysplasia, Scoliosis, Short nose |
OMIM:618379 |
1P36 Deletion Syndrome |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears,... |
ORPHA:1606 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Synophrys, Abnormal form of the vertebral bodies, Ho... |
ORPHA:2162 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A... |
OMIM:611134 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me... |
OMIM:184260 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Desbuquois Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Short neck, Camptodactyly of... |
ORPHA:1425 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Kyphosi... |
ORPHA:2075 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, Inguinal hernia, Prominent nasal bridge, Single transverse palmar crease, Short ne... |
OMIM:613544 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Synophrys, Distal widening of metacarpals... |
OMIM:602535 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... |
ORPHA:2970 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Anteverted nares, Femoral hernia, Micromelia, Micrognathia, Short neck, S... |
ORPHA:93299 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Hiatus hernia, Pectus excavatum, Vertebral artery tortuosity, Celiac ... |
OMIM:619329 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands, Scoliosis, Broad nasal tip |
ORPHA:85287 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Atrial septal defect, Broad ribs,... |
OMIM:300373 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Inguinal hernia, Dilation of Virchow-Robin spaces, Sparse eyelashes, Tapered toe,... |
ORPHA:544488 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Bulbous nose, Wide nasa... |
ORPHA:3080 |
Yuan-Harel-Lupski Syndrome |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Decreased nerve conduct... |
OMIM:616652 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Abnormality of the urinary system, Scoliosis, Short nose, C... |
ORPHA:1695 |
Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Anteverted nares, Hypospadias, Congenital diaphragmati... |
ORPHA:2059 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Conductive hearing impairment, Central Y-shaped metacarpal, Low-set ears, Occipita... |
OMIM:277170 |
Kbg Syndrome |
|
Single transverse palmar crease, Short neck, Synophrys, Protruding ear, Thoracic kyphosis, Short ... |
OMIM:148050 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Epicanthus, Sacral dimple, Overlapping toe, Highly arched eyebrow, Tapered finger, Postaxial poly... |
OMIM:613792 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Kyphoscoliosis, Patent ductus arteriosus, Postaxia... |
ORPHA:65759 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia, Depressed nasal bridge |
OMIM:275100 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Polyuria, Mesoaxial hand polydactyl... |
OMIM:615994 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Recurrent respiratory infections, Ventricular septal defect, Aganglionic megac... |
OMIM:174300 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,... |
OMIM:614120 |
Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Knee flexion contracture, Short palm, Long hallux, Depre... |
OMIM:613776 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Ab... |
ORPHA:163966 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel... |
ORPHA:2378 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... |
ORPHA:1200 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Dumbbell-shaped l... |
OMIM:269250 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Hyd... |
OMIM:182940 |
Joubert Syndrome 10 |
|
Low-set ears, Epicanthus, Downslanted palpebral fissures, Postaxial polydactyly |
OMIM:300804 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di... |
ORPHA:99106 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl... |
ORPHA:3219 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Abnormality of the upper... |
ORPHA:2145 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Renal agenesis, Spina bifida, Micrognathi... |
ORPHA:3412 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Recurrent urinary tract infections, Short neck, Bifid nasal tip, Vertebral ... |
OMIM:616854 |
Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening,... |
OMIM:615984 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Congenital hip dislocation, Pate... |
ORPHA:2412 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Hypoplasia of first rib... |
OMIM:161200 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Brachydactyly, Micromelia, Proximal placement of thumb, Kyphos... |
ORPHA:3121 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Scoliosis, Micrognathia |
OMIM:615731 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia, Micrognathia |
OMIM:617562 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Epicanthus, Hypoplastic scapulae, Brachydactyly, Bowing of the long bones, Micromelia... |
OMIM:614091 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Micro... |
ORPHA:2166 |
Trisomy 4P |
|
Depressed nasal bridge, Camptodactyly of finger, Hypospadias, Short neck, Carious teeth, Preaxial... |
ORPHA:1738 |
8P23.1 Duplication Syndrome |
|
Wide nose, Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot, Hyd... |
ORPHA:251076 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Epicanthus, Optic disc pallor, Ventricular septal defect, Singl... |
OMIM:618950 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Epicanthus, Ventricular septal defect, Single transverse palmar crease, Posteriorly rotated ears,... |
OMIM:619717 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Dep... |
OMIM:608022 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Bilateral ptosis, Kyphos... |
ORPHA:404440 |
Tarp Syndrome |
|
Single transverse palmar crease, Atrial septal defect, Small earlobe, Low-set, posteriorly rotate... |
ORPHA:2886 |
Tarp Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
OMIM:311900 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:2184 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
Achondrogenesis |
|
Inguinal hernia, Anteverted nares, Micromelia, Micrognathia, Short neck, Umbilical hernia, Short ... |
ORPHA:932 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgene... |
ORPHA:3033 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ... |
OMIM:252100 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Tapered finger, Bulbous nose, Patent ductus ar... |
OMIM:613870 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cardiomegaly, Short neck, Beaded ribs, Micrognathia, Flexion contracture, Micropenis, Anteverted ... |
OMIM:616897 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Enlarged thorax, Atriov... |
ORPHA:251071 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Protruding ear, ... |
OMIM:619534 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Broad hallux pha... |
ORPHA:2308 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Depres... |
ORPHA:2256 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial polydactyly, Tapered f... |
OMIM:619721 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent te... |
OMIM:618506 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... |
OMIM:611560 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa... |
OMIM:618870 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney... |
ORPHA:1519 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Prominent nasal bridge, Prominent nose, Carious teeth, Radioulnar s... |
ORPHA:3270 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Renal cyst, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger,... |
OMIM:272460 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Microphallus, Tetralogy of F... |
OMIM:615542 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Scoliosis, D... |
OMIM:616362 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, Perim... |
OMIM:617877 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Pear-shaped nose, Preaxial hand polydactyly, Interphalangeal joint contracture of finger, Knee fl... |
OMIM:606242 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Clinodactyly, Wide n... |
OMIM:618577 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... |
ORPHA:175 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Cervical kyphosis, Rhizomeli... |
OMIM:108721 |
Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Prominent nasal bridge, Kyphoscoliosis, Micrognathia, Short neck, Underdeveloped... |
OMIM:277720 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Renal hypoplasia, Spinal dysraphism, Scoliosis, Lipoma, ... |
OMIM:612918 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Choana... |
OMIM:608572 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... |
OMIM:249670 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Broad metacarpals, Long hallux, Short metacarpal, Lumb... |
OMIM:602875 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Bilateral single transverse palmar creases, Micrognath... |
ORPHA:2516 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, S... |
ORPHA:894 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atr... |
OMIM:617925 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Hydrocephalus, Polydactyly, Hernia... |
OMIM:602501 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Broad nasal tip, Hypopl... |
OMIM:615524 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Hydrocephalus, Postaxial hand polydactyly |
OMIM:615938 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
Lambotte Syndrome |
|
Ventricular septal defect, Preaxial foot polydactyly, Retrognathia, Convex nasal ridge, Semilobar... |
OMIM:245552 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v... |
ORPHA:3320 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Atrial septal de... |
OMIM:157800 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Sirenomelia, Aplasia/Hypoplasia of... |
ORPHA:3169 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... |
OMIM:300963 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, B... |
OMIM:603671 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias |
ORPHA:1355 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... |
OMIM:619980 |
Robinow Syndrome |
|
Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Rib fusion, Mesomelic ... |
ORPHA:97360 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Underdeveloped nasal al... |
ORPHA:398156 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Hypospadias, S... |
OMIM:614613 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Prominent nose, Short neck, Micrognathia, Delayed ep... |
OMIM:210710 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... |
OMIM:620025 |
Down Syndrome |
|
Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atriov... |
OMIM:190685 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Micrognathia, Kyphosis, Patent ductus arteriosus, Hypo... |
ORPHA:314588 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Depressed nasal... |
OMIM:620073 |
Hajdu-Cheney Syndrome |
|
Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, Dislocated radial head, Anteverted ... |
OMIM:102500 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of subcutaneous fat tissue, Depressed nasal bridge, Femoral hernia, ... |
ORPHA:1899 |
Perlman Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Anteverted nares, Femoral hernia, Nephroblastoma, Micrognat... |
ORPHA:2849 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism,... |
OMIM:617660 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Short neck, Micrognathia, Coxa ... |
ORPHA:163649 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... |
OMIM:610205 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Short neck, De... |
OMIM:616038 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Wide nasal bridge, S... |
ORPHA:11 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Ectropion of lower eyelids, Preaxial polydactyly, Co... |
OMIM:614976 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Prominent nasal bridge, Renal hypoplasia/aplas... |
ORPHA:2754 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Short neck, Hypopl... |
OMIM:613320 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Epicanthus, Abnormal rib morphology, Clinod... |
ORPHA:2475 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers, Wide nasal bridge, Clinod... |
OMIM:620393 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Ulnar deviation of the hand, Ventricular septal defect, Posteriorl... |
OMIM:620113 |
Trisomy 17P |
|
Wide nose, Hypoplasia of penis, Urethral valve, Prominent nose, Short neck, Micrognathia, Patent ... |
ORPHA:261290 |
Seckel Syndrome 8 |
|
Kyphoscoliosis, Ectopic kidney, Spinal cord compression, Micrognathia, Convex nasal ridge |
OMIM:615807 |
Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Synostosis of carpal bones,... |
ORPHA:3258 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Kyphoscoliosis, Hyper... |
OMIM:618363 |
Mmep Syndrome |
|
Mandibular prognathia, Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
Joubert Syndrome 40 |
|
Almond-shaped palpebral fissure, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Alg9-Cdg |
|
Short neck, Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tract m... |
ORPHA:79328 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Short neck, Syndactyly, Patent ductus arteriosus, Postaxia... |
OMIM:249000 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Proximal renal tubular acidosis,... |
OMIM:181180 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Short neck, Flexion contracture, Ankyloblepharon, Hypoplastic iliac wi... |
OMIM:263650 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal... |
OMIM:611561 |
Cone-Rod Dystrophy 16 |
|
Optic disc pallor, Postaxial polydactyly |
OMIM:614500 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Brachydactyly, Hypospadias, Carious teeth,... |
ORPHA:1786 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Increased size o... |
ORPHA:457395 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hydroceph... |
OMIM:614576 |
Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Omphalocele, Duplicated collecting system, Hydroureter, ... |
OMIM:258040 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Depressed nasal bridge, Short neck, Tapered finger, Wide n... |
OMIM:607131 |
Radio-Renal Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micromelia... |
ORPHA:3015 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck,... |
OMIM:619879 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Ingui... |
OMIM:600325 |
Pseudoaminopterin Syndrome |
|
Hypoplasia of the antihelix, Single transverse palmar crease, Limited elbow movement, Patent fora... |
ORPHA:221120 |
Braddock Syndrome |
|
Epicanthus, Posteriorly rotated ears, Missing ribs, Pectus excavatum, Preaxial hand polydactyly, ... |
ORPHA:52047 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Conductive he... |
ORPHA:3082 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Hydrocephalus, Abnormal... |
ORPHA:2701 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemiver... |
OMIM:271520 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Depressed nasal bridge, Campto... |
ORPHA:137834 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna... |
ORPHA:93329 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hydroceph... |
OMIM:314390 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Scoliosis, Atrial septal defect |
OMIM:608227 |
Isolated Hemihyperplasia |
|
Inguinal hernia, Myelomeningocele, Nephroblastoma, Scoliosis |
ORPHA:2128 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Sensorineural hearing impairment, Abnormal rib morphology... |
ORPHA:2790 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphalangism affecting th... |
ORPHA:628 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Protruding ear, Clinodactyly o... |
ORPHA:329224 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Protruding ear, Peripheral arteriovenous fistula, Abnormal eyelash mo... |
ORPHA:286 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic... |
OMIM:613390 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Inguinal hernia, Ventricular septal defect, Micrognathia, Underd... |
ORPHA:166035 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislo... |
ORPHA:93328 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Micrognathia, Abnorma... |
ORPHA:971 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... |
ORPHA:573278 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, Short palm... |
OMIM:249420 |
Pierpont Syndrome |
|
Prominent fingertip pads, Wide nose, Short neck, Broad nasal tip, Short toe, Broad palm, Micropen... |
OMIM:602342 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Hyperlordosis... |
OMIM:253010 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Abnormal form of the vertebral bodies, Atrial septal defect, Con... |
OMIM:194190 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Syndactyly, Renal agenesis, Broad hallux, Micrognathia, Ectopic kidney, H... |
OMIM:212780 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Atrioventricular ... |
ORPHA:672 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, Vesicoureteral refl... |
ORPHA:2745 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hallux valgus, Ventricular septal defect, Proteinuria, Kyphoscoliosi... |
OMIM:618348 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Lon... |
OMIM:619995 |
Trisomy 13 |
|
Ventricular septal defect, Abnormal eyelash morphology, Kyphosis, Patent ductus arteriosus, Posta... |
ORPHA:3378 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum... |
OMIM:208050 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
Zttk Syndrome |
|
Epicanthus, Unilateral lung agenesis, Ventricular septal defect, Sparse eyebrow, Kyphosis, Patent... |
OMIM:617140 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia |
OMIM:613670 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Kyphosis,... |
OMIM:618272 |
Cantú Syndrome |
|
Cardiomegaly, Short neck, Narrow chest, Broad ribs, Finger syndactyly, Broad hallux phalanx, Curl... |
ORPHA:1517 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Hydrocephalus, Wide nasal... |
OMIM:614886 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Missing ribs, Campt... |
ORPHA:1488 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Wide nasal bridge, Renal cyst |
OMIM:614870 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Long thorax, Limb und... |
OMIM:619142 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Atrial septal defect, Clinodactyly ... |
ORPHA:84 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Singl... |
OMIM:616651 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Short neck, Conductive hearing impairment, Vertebral fusion, Tethered cord... |
OMIM:130720 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Cleft ala nasi, Congenital hip dislocation, Congenital diaphragmatic hernia... |
OMIM:305600 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Conductive hearing... |
OMIM:280000 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Micrognathia, Promin... |
OMIM:617516 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Hypospadias, Micrognathia, Complete atrioventricular cana... |
OMIM:236680 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, Shallow orbits, Clinodactyly of the 5th finger, Thoracolumbar scol... |
OMIM:616580 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,... |
OMIM:619356 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Short neck, Femoral bowing, Tibial bowing, Knee flexion contract... |
OMIM:601559 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Metatarsus adductus, S... |
ORPHA:436003 |
Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Atrial septal defect, P... |
OMIM:229850 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Flexion... |
OMIM:180849 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Arachnodactyly, Minimal chan... |
OMIM:616730 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Abnormal pinna morphology, Sparse eyebrow, S... |
OMIM:302960 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Short nose, Scoliosis, Micrognathia |
ORPHA:2598 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly |
OMIM:615937 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Ventricular septal defect, Depressed nasal bridge, Toe syndactyly, Pe... |
ORPHA:46627 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Micromelia, Underdeveloped nasal alae, Kyphosis, Limited elbow... |
OMIM:180870 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormality of the hand, Abnormality of the ear, Narr... |
OMIM:192430 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Patent for... |
OMIM:256520 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Inguinal hernia, Anteverted nares, Short neck, Micrognathia, M... |
OMIM:616266 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of ... |
ORPHA:1895 |
Orofaciodigital Syndrome Iv |
|
Epicanthus, Toe syndactyly, Postaxial polydactyly, Pectus excavatum, Hand polydactyly, Foot polyd... |
OMIM:258860 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Syndactyly, Finger synd... |
OMIM:101600 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Short 2nd finger, Ventricular septal defect, Broad hallux, Highly arc... |
OMIM:600987 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... |
OMIM:611263 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Recurrent urinary tract infections, Hypoplasia of penis, Epispadias... |
ORPHA:93930 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist ... |
OMIM:193700 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Mitral valve prolapse, Platyspondyly, Abnormal epiphysis morphology, A... |
ORPHA:90653 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Missing... |
OMIM:206900 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Micromelia, Short neck, Postaxial hand polydactyly, Short nose, Cystic renal dysplas... |
OMIM:200995 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Encephalocele, S... |
OMIM:108720 |
Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Branchial anomaly, Malar flattening |
ORPHA:1296 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Hydrocephal... |
ORPHA:974 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Anteverted nares, Rhizomelia, Phalangeal dislocation, Short neck, Micrognat... |
OMIM:264180 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality... |
ORPHA:369891 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Bilateral sing... |
OMIM:619657 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, ... |
ORPHA:228399 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Coxa valga, Short neck, Large plac... |
ORPHA:254519 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Abnormal aortic arch morphology, Atrial septal defect, Vesicoureteral r... |
ORPHA:567 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, ... |
OMIM:214800 |
Lateral Meningocele Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abnormality of ... |
ORPHA:2789 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Broad nasal tip, Delayed epiphysea... |
ORPHA:166016 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Rudiger Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Ureterovesical stenosis, Single transverse palmar crease... |
OMIM:268650 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Myeloschisis, Tethered cord, My... |
OMIM:600145 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,... |
OMIM:601680 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Multicystic kidney dysplasia, Depressed nasal bridge, Anteve... |
ORPHA:1001 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia... |
OMIM:601186 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Abnormality of the kidney, Single transverse palmar crease, Broad nasal ti... |
ORPHA:391372 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Abnormal rib morphology, Conductive hearing impairment, Stenosis of the external a... |
ORPHA:1513 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Depressed nasal bridge, Ventricular septal defect, Single transverse palmar cre... |
OMIM:617061 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Short... |
OMIM:300887 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Epicanthus, Arachnodactyly, Long palm, Posteriorly rotated ears... |
ORPHA:2759 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Postaxial hand polydactyly,... |
OMIM:607361 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta,... |
OMIM:218600 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl... |
ORPHA:3426 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Pulm... |
OMIM:618330 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Abnormal rib morphol... |
ORPHA:52 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... |
OMIM:302950 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... |
OMIM:305400 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... |
OMIM:613680 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Micrognathi... |
OMIM:222765 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Micrognathia, Ectopic kidney, 2-3 toe syndactyly, Abnormal heart morphology, Sma... |
OMIM:239800 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Epicanthus, Dextrocardia, Secundum atrial septal defect, Pneumo... |
ORPHA:2257 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Depressed nasal bridge, Kyphosis, Upper limb undergrowth, Polydactyly,... |
OMIM:169400 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia... |
ORPHA:2083 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Meningocele, Renal cys... |
ORPHA:2031 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Tubular lum... |
OMIM:219730 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Scoliosis, Ptosis |
OMIM:614688 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Knee flexion con... |
OMIM:271665 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation... |
OMIM:312870 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Recurrent urinary tract infecti... |
ORPHA:2438 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Upper eyelid entropion, Postaxial polydact... |
ORPHA:457284 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular ... |
OMIM:271510 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... |
OMIM:617992 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Arachnodactyly, Long nos... |
OMIM:617602 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Kyphosis, Short nose, Scoliosis |
ORPHA:2429 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos... |
OMIM:154400 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Micrognathia, Alobar holoprosencephaly, Patent ductus arteriosus, Vert... |
OMIM:301043 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Narrow greater s... |
ORPHA:508533 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, H... |
ORPHA:2409 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Abnormal size of the palpebral fissures, Highly arched eyebrow, Ventricula... |
ORPHA:500159 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Hyp... |
ORPHA:1727 |
Stromme Syndrome |
|
Prominent nasal bridge, Micrognathia, Hydrocephalus, Bilateral renal hypoplasia, Preaxial polydac... |
OMIM:243605 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Micropenis, Depressed nasal bridge,... |
OMIM:301040 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Single transverse palmar crease, Vertebral clefting, Hemivertebrae,... |
OMIM:614701 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Sacral dimple, Finger syndactyly, Hypospadias, Broad ha... |
ORPHA:2211 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Short neck, Adducted thumb, Wide n... |
ORPHA:1147 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T... |
ORPHA:2473 |
Peho-Like Syndrome |
|
Short nose, Retrognathia, Tapered finger |
OMIM:617507 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, Abnormal rib mo... |
ORPHA:2522 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna... |
ORPHA:1596 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, ... |
ORPHA:263508 |
Okamoto Syndrome |
|
Urinary incontinence, Primum atrial septal defect, Tethered cord, Depressed nasal bridge, Antever... |
ORPHA:2729 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5... |
ORPHA:2710 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Abnormal heart morphology, Vertebral segmentation defect, Syringomyelia, Hip dy... |
ORPHA:531151 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Hernia, Vesicouret... |
ORPHA:261494 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Thoracic scoliosis, Short neck, Shoulder dislocation, Squared iliac bones, Umbilical hernia, Ptos... |
OMIM:618000 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, Wide nasal bridge, Clinodactyly of the 5th finger, Co... |
OMIM:314320 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Oculofaciocardiodental Syndrome |
|
Highly arched eyebrow, Hearing impairment, Short thumb, Patent ductus arteriosus, Sensorineural h... |
ORPHA:2712 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Micrognathia, Recurren... |
ORPHA:3078 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Brachydactyly, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Micrognat... |
OMIM:616331 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
3Mc Syndrome 3 |
|
Sacral dimple, Abnormal pinna morphology, Diastasis recti, Highly arched eyebrow, Hearing impairm... |
OMIM:248340 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Singl... |
ORPHA:264450 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Inguinal hernia, Arachnodactyly, Mitral valve prolapse, Atrophic scars, Bilateral talipes equinov... |
OMIM:615539 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Ventricular septal defect, Hypoplasia of the maxilla, Clinodactyly, Ves... |
OMIM:614261 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Broad hallux,... |
OMIM:615948 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Sacral dimple, Posteriorly rotated ears, Postaxial polydactyly,... |
OMIM:300968 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Dextrocardia, Missing ribs, Diastomatomyelia, Meningocele, Abnormal tric... |
ORPHA:1759 |
C Syndrome |
|
Omphalocele, Sacral dimple, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nare... |
ORPHA:1308 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna... |
ORPHA:96097 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, P... |
OMIM:618829 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Multiple lipomas, Foot polyd... |
ORPHA:210548 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Metaph... |
OMIM:255800 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbous nose, Clinodactyly, Wide... |
OMIM:613604 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th... |
ORPHA:2319 |
Emanuel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ... |
OMIM:609029 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Micrognathia, ... |
OMIM:250410 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Func... |
ORPHA:96148 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Conical incisor, Cutaneous finger syndactyly, Short palm, Atrial septal defect, V... |
OMIM:235510 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Anteverted nares, R... |
OMIM:220500 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Prominent fingertip pads, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Abnorm... |
ORPHA:485405 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe sy... |
OMIM:272440 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Hypospadias, Short neck, Micrognathia, Prox... |
OMIM:217980 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplasti... |
OMIM:616910 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst |
OMIM:614970 |
Li-Campeau Syndrome |
|
Telecanthus, Ventricular septal defect, Single transverse palmar crease, Patent foramen ovale, Pa... |
OMIM:619189 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, Atrial septal defect, ... |
OMIM:121050 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale, Patent du... |
OMIM:612582 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Abnormal car... |
OMIM:608776 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Wide nasal ... |
ORPHA:3369 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly, Femoral hernia, Inguinal hernia |
ORPHA:2917 |
Noonan Syndrome 8 |
|
Epicanthus, Ventricular septal defect, Short neck, Patent ductus arteriosus, Pleural effusion, Ab... |
OMIM:615355 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Prominent na... |
ORPHA:85201 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sacral dimple, Tethered cord, Patent ductus arteriosus after premature birt... |
OMIM:618460 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Highly arched eyebrow, Asymmetry of the ears, Sparse eyebrow, Flexion contracture, U... |
OMIM:619124 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Spina... |
OMIM:618624 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Lateral clavicle hook, Hydrocephalus, Postaxial hand polydactyly, Cone... |
OMIM:615630 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Anteverted nares, Hypospadias, Overlapping ... |
OMIM:613026 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Highly ar... |
OMIM:617452 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Missing ribs, Coronal hypo... |
OMIM:619859 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, D... |
OMIM:270100 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Congenital diaphragmatic h... |
OMIM:122470 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis, Umbili... |
ORPHA:2241 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hearing impairment, Pulmonary artery... |
ORPHA:85202 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Hydrocephalus, Supernumerary ribs, Short nose, Retrognathia |
ORPHA:163961 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Hypertrophic cardiomyopathy, Short... |
OMIM:617183 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a... |
OMIM:614846 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Large tarsa... |
OMIM:215150 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Renal hypoplasia/aplasia, Aqueducta... |
ORPHA:1788 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Per... |
OMIM:617822 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Upslanted palpebral fissure, Low-set ears,... |
ORPHA:276422 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte... |
OMIM:612561 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... |
OMIM:616007 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Postaxial polydactyly |
OMIM:615985 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Atrial s... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Atrial s... |
ORPHA:363958 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly |
OMIM:618618 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Abnormal lung lobation, Tetraphocomelia, Hypoplastic vertebral bodies, H... |
OMIM:215140 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Synophrys, Recurrent upper respiratory tract infections, Ovoid t... |
OMIM:252900 |
Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Atrial septal defect, Conductive hearing impairment, Dys... |
OMIM:601808 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Hip dysplasia, Clinodactyly of the 5th finger, Sh... |
OMIM:617991 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Short neck, Prominent nose, Micrognathia, Abnormal finger morphology, Vesi... |
DECIPHER:81 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Metaphyseal widening, Renal neoplasm, Depressed nasal ... |
ORPHA:536467 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... |
OMIM:615560 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Short neck, Kyphosis, Patent ductus arteriosus, Cupped ear, Hemivertebrae, Overfolded... |
OMIM:618223 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Atrial septal defect, Contracture of the proxi... |
OMIM:300166 |
Pseudoachondroplasia |
|
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... |
OMIM:177170 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Postaxial polydactyly, Patent ductus arteriosus, Postaxial hand polydactyly, Aplasia ... |
OMIM:617088 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Ta... |
ORPHA:435938 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Postaxial polydactyly |
OMIM:618955 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Epicanthus, Pectus excavatum, Conductive hearing impairment, S... |
ORPHA:1131 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Hypospadias, Broad nasal tip, Clin... |
OMIM:619736 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Ptosis, Camptodactyly of finger, Short neck, Abnormal rib morp... |
ORPHA:1703 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Aplasia of the bladder, Hypoplasia ... |
OMIM:200980 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia, Sparse eyebrow, Pectus ex... |
OMIM:612530 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Diastasis recti, Unilateral renal agenesis, Underdeveloped nasal alae, Single transv... |
OMIM:618419 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Abnormal odontoid process morphology, Short neck, Pectus excavatum, Cu... |
OMIM:609654 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Anteverted nares, Unilateral renal agenesis, Multiple sma... |
OMIM:216360 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morphology, Multi... |
ORPHA:2461 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Postaxial hand polydactyly |
ORPHA:1389 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Renal hypoplasia, 2-3 toe synda... |
OMIM:618914 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Anteverted nares, Short neck, Patent ductus arteriosus, Hydrocephalus,... |
OMIM:612938 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Cranioectodermal Dysplasia 3 |
|
Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyl... |
OMIM:614099 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Up... |
OMIM:618974 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Enamel ... |
ORPHA:2643 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathi... |
ORPHA:3409 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ... |
ORPHA:2557 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Short neck, Microgn... |
OMIM:258315 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Isolated Polycystic Liver Disease |
|
Back pain, Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Po... |
ORPHA:1770 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Aortic root an... |
OMIM:619910 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Atrial septal defect, Malar flatte... |
ORPHA:93946 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno... |
OMIM:617478 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent nasal bridge, ... |
OMIM:619951 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Genu varum, Short metac... |
OMIM:619636 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Unilateral renal agenesis, ... |
OMIM:618494 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Camptodactyly of finger, Micrognathia |
ORPHA:1495 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of... |
OMIM:610536 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Vertebral fusion, Hypo... |
ORPHA:959 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Polycystic kidney dysplasia, Wide nasal bridge, Vascular dilatation |
OMIM:614859 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal brid... |
OMIM:193500 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Anteverted ears, Macrotia, Postaxial polydactyly |
ORPHA:544254 |
Ogden Syndrome |
|
Inguinal hernia, Broad hallux, Ventricular septal defect, Pulmonary artery stenosis, Low-set ears... |
ORPHA:276432 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypop... |
ORPHA:2746 |
Congenital Sialidosis Type 2 |
|
Inguinal hernia, Respiratory tract infection, Hydrocephalus, Optic atrophy, Abnormal heart morpho... |
ORPHA:93400 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Anteverted nares, Bilateral single transverse palmar creases, Short neck, Microg... |
ORPHA:3191 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Short neck, Micrognathia, Ca... |
OMIM:272430 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, S... |
OMIM:257300 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Anteverted nares, Hydrocephalus, Abnormal renal morphology,... |
ORPHA:59315 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Anteverted nares, Choanal atresia, Rhizomelia, Micrognathia, Abnormal form of th... |
ORPHA:2645 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Thoracolumbar scoliosis, Overl... |
OMIM:616723 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Ventricular septal defect, Single transverse palmar crease, ... |
ORPHA:1708 |
Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Wide... |
OMIM:615236 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnor... |
ORPHA:1295 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Ventral shortening of foreskin, Urethral diverticul... |
ORPHA:95706 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Low-set, posteriorly rotated ears, Scapular winging, Abnormal pu... |
ORPHA:500 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Renal cyst |
OMIM:174050 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Abnormal lung lobation... |
ORPHA:958 |
Arterial Tortuosity Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Femoral hernia, Hiatus hernia, Pulmona... |
ORPHA:3342 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Synophrys, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clin... |
ORPHA:251014 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... |
ORPHA:284169 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Prominent nasal bridge, Spina bifida, Hyperlordosis, Underdeveloped nasal alae, Micr... |
OMIM:234100 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger |
ORPHA:2515 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Arterial tortuosity,... |
OMIM:614816 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hearing impairment, Pectus excavatum, Pulmona... |
ORPHA:96167 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Delayed eruption... |
ORPHA:819 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ... |
OMIM:258480 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hemivertebrae, Protruding ear, Atrial septal defect, Emphysema, Lumbar ... |
ORPHA:500150 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Short neck, Kyphosis, Genu valgum, Short nose, Spina bifida occulta |
ORPHA:2983 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, Low-set ears, Ptosis |
OMIM:619185 |
Fraser Syndrome |
|
Omphalocele, Encephalocele, Hypoplasia of penis, Cleft ala nasi, Depressed nasal bridge, Multicys... |
ORPHA:2052 |
Holoprosencephaly 7 |
|
Omphalocele, Hypoplasia of the premaxilla, Flat nasal alae, Alobar holoprosencephaly, Hydrocephal... |
OMIM:610828 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Micrognathia, Short nec... |
ORPHA:2879 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Flexion contracture... |
OMIM:312150 |
X-Linked Intellectual Disability, Nascimento Type |
|
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Underdeveloped nasal alae, Overla... |
ORPHA:163956 |
Esophageal Atresia |
|
Omphalocele, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Abnormality... |
ORPHA:1199 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Shallow orbits, Conductive hearing impairm... |
OMIM:150250 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, 2-3 toe syndactyly, Talipe... |
ORPHA:3306 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Epicanthus, Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proxi... |
OMIM:300998 |
Hurler Syndrome |
|
Recurrent respiratory infections, Abnormal clavicle morphology, Abnormal heart valve morphology, ... |
ORPHA:93473 |
Hajdu-Cheney Syndrome |
|
Short neck, Absent frontal sinuses, Micrognathia, Hernia, Partial absence of toe, Anteverted nare... |
ORPHA:955 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Spinal cord compression, Flared metap... |
ORPHA:93346 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery stenosis, Postaxial hand p... |
ORPHA:75389 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polyd... |
OMIM:263520 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Wide nose, Sacral dimple, Ventricular septal defect, Pro... |
ORPHA:505237 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Renal cyst, Hors... |
OMIM:612284 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Scoliosis, Hepatic cysts, Brachydac... |
OMIM:613819 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Synophrys, Patent ductus... |
OMIM:617751 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Lumbar Syndrome |
|
Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B... |
ORPHA:83628 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Facial palsy, Absent eyelashes, Preaxial hand polydactyly, Protruding ear, Hand p... |
ORPHA:2316 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia |
OMIM:300484 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Hydrocephalus, Postaxial hand polydactyly, Narrow palpebral fissure, Lo... |
OMIM:220220 |
Trisomy X |
|
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl... |
ORPHA:3375 |
Floating-Harbor Syndrome |
|
Short neck, Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarth... |
ORPHA:2044 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Inguinal hernia, Anterior beaking of lower thoracic vertebrae, ... |
ORPHA:584 |
3M Syndrome |
|
Congenital hip dislocation, Abnormal cerebral vascular morphology, Micromelia, Short neck, Increa... |
ORPHA:2616 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib morphology, Hemiverteb... |
ORPHA:2180 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas... |
OMIM:208500 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Dorsocervical fat pad, Kyphoscoliosis, Short neck, Micrognathia, Dev... |
ORPHA:391408 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Nephrocalcinosis, L... |
OMIM:618005 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Depressed nasa... |
OMIM:156550 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Long nose, Kyphosis, Dental malocclusi... |
ORPHA:2115 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Micromelia, Micrognathia, Ur... |
ORPHA:93271 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Joint contracture, Scoliosis, Short nose |
OMIM:615419 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Atrial septal defect, Depressed nasal brid... |
OMIM:613458 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Shallow orbits, Conductive hearing... |
OMIM:182212 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Abnormality of the kidney, Down-sloping shoulders, M... |
ORPHA:1724 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal heart valve morphology, Abnormal dental enamel morphology, Cox... |
ORPHA:582 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Broad nasal tip, Tapered finger, Cyst of the ductus choledochus, Pat... |
OMIM:619480 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology... |
ORPHA:3469 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry, Protruding ear |
ORPHA:231140 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum... |
OMIM:617752 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ... |
OMIM:601812 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,... |
OMIM:615398 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Congenital diaphragmati... |
ORPHA:1780 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Ventricular septal defect, Prominent nose, Short neck, Micrognathia, Pat... |
OMIM:615668 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ... |
OMIM:619562 |
Weiss-Kruszka Syndrome |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Single trans... |
OMIM:618619 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Hypospadias, Narrow nasal ridge, Prominent nose, Short neck, Micrognathia... |
ORPHA:363528 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Single transverse palmar crease, Short neck, ... |
OMIM:244300 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosi... |
OMIM:616276 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Hip dysplasia, 3-Methylglutaconic aciduria, Scoliosis, Hyper... |
ORPHA:496790 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Hyperlordosis, Central diaphr... |
OMIM:617450 |
Emanuel Syndrome |
|
Congenital hip dislocation, Hooded eyelid, Multiple joint contractures, Congenital diaphragmatic ... |
ORPHA:96170 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Camptodactyly of finger, Arachnodactyly, Abnormal renal morpho... |
ORPHA:83 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Absent tragus, Preaxial hand polydactyly, Conductive hearing impairment,... |
ORPHA:79113 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Hernia, Short nose |
ORPHA:1702 |
Marshall Syndrome |
|
Radial bowing, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Hy... |
OMIM:154780 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Ventricul... |
ORPHA:2008 |
Meckel Syndrome, Type 7 |
|
Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis,... |
OMIM:267010 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Flexion contracture... |
OMIM:253290 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hearing impairment, Short neck, Hyperlordosis, Short thorax, Nasolacrimal duct o... |
ORPHA:3218 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ptosis, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Optic nerve hypop... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ptosis, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Optic nerve hypop... |
ORPHA:352665 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Anteverted nares, Short neck, Patent ductus arteriosus, Duplication of pha... |
OMIM:243310 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, Congenital contracture, Scoliosis, Micrognathia |
OMIM:615042 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Short neck, Beaded ribs, Bowing of the legs, ... |
OMIM:200600 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ... |
OMIM:618150 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Absent eyebrow, Inguinal hernia, Aganglionic megacolon, Hearing impairment, Absent e... |
OMIM:308205 |
Trisomy 12P |
|
Micrognathia, Short neck, Wide nasal bridge, Large hands, Abnormality of the urinary system, Clin... |
ORPHA:1699 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Multiple joint contractures, Single transverse palmar... |
ORPHA:536471 |
Tetrasomy 5P |
|
Pericallosal lipoma, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Short neck, L... |
ORPHA:3309 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Renal cyst, Short palm, Long toe, Multicystic kidney dysplas... |
OMIM:614527 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Amish Lethal Microcephaly |
|
Organic aciduria, Spina bifida, Micrognathia |
ORPHA:99742 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Microg... |
ORPHA:1234 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Abno... |
ORPHA:500095 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Inguinal hernia, Abnormal heart valve morphology, Cervical kyphosis, Kyphoscol... |
ORPHA:2953 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Postaxial polydactyly, Poste... |
OMIM:605627 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... |
OMIM:608612 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Short humerus, Ventricular septal defect, Anomalous ... |
OMIM:117650 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Inguinal hernia, Short femur, Depressed nasal bridge, Anteverted nar... |
OMIM:618188 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
OMIM:617527 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Ventricular septal defect, Anteverted nares, Proximal placement... |
OMIM:619762 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placemen... |
ORPHA:818 |
Al-Raqad Syndrome |
|
Atrial septal defect, Short nose, Sandal gap, Brachydactyly |
OMIM:616459 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Hypospadias, Micrognathia, Short 5th finger, Microphallus, Small pla... |
ORPHA:397590 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Hydrocephalus, Prominent fingertip pads, Short nose |
OMIM:300558 |
Giant Cell Arteritis |
|
Pericarditis, Abnormal pleura morphology, Hearing impairment, Recurrent pharyngitis, Vertigo, Vas... |
ORPHA:397 |
Noonan Syndrome 10 |
|
Short neck, Pectus carinatum, Atrial septal defect, Sparse eyebrow, Patent ductus arteriosus, Pul... |
OMIM:616564 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Short neck, Micrognathia, Wide nasal bridge, Abn... |
ORPHA:2077 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Neu-Laxova Syndrome |
|
Micromelia, Micrognathia, Spina bifida, Trismus, Flexion contracture, Depressed nasal ridge, Larg... |
ORPHA:2671 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Short neck, Pectus carinatum, Clinodactyly of the 5th finger, Sh... |
OMIM:616145 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Ventricular septal defect, Hearing impairment, Tapered finger, Patent ductus arterios... |
OMIM:617159 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Epicanthus, Postaxial polydactyly, Synophrys, Sensorineural hearing impairment, Upslanted palpebr... |
OMIM:615824 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Depressed nasal bridge, Multiple renal cysts, Anteverted nares, Renal cyst |
OMIM:614883 |
Toluene Embryopathy |
|
Micrognathia, Tapered finger, Abnormal localization of kidney, Hypoplasia of the zygomatic bone, ... |
ORPHA:1920 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Truncus arteriosus, B... |
OMIM:616589 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Hemiatrophy, Scolio... |
ORPHA:2874 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short neck, Bulbous nose, Wide nasal bridge, Abnormal heart m... |
OMIM:618571 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Long thorax, Limb ... |
OMIM:619143 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Short neck, Micrognathia, Bowing of the legs, Hydroc... |
ORPHA:1865 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, Wide nasal bridge, ... |
OMIM:218000 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Optic nerve hypoplasia, Narrow palpe... |
OMIM:615879 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Ventricular septal defect, Brachydacty... |
OMIM:147791 |
Cleidocranial Dysplasia |
|
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Chronic otiti... |
ORPHA:1452 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal lung lo... |
ORPHA:1666 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Wide nasal bridge, Hypoplasi... |
OMIM:249620 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal de... |
OMIM:107480 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Ventricular septal defect, Short neck, Sensorineural hearing impairmen... |
OMIM:214300 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Complete ... |
ORPHA:476126 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Bulbous nose, Patent ductus arteriosus, Hy... |
ORPHA:250989 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Overlapping toe, Flexion contracture, Wide nasal bridge, H... |
OMIM:619383 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delay... |
OMIM:271640 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Broad nasal tip, Tapered finger, Short toe, Abnormal renal morphology, Hyd... |
OMIM:239300 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele, Coarctation of a... |
ORPHA:280195 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Scoliosis |
OMIM:618218 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Posteriorly rotated ears, Abnormal pinna morphology, Highly arche... |
ORPHA:313781 |
Leopard Syndrome 3 |
|
Posteriorly rotated ears, Short neck, Cubitus valgus, Sensorineural hearing impairment, Shield ch... |
OMIM:613707 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal sternum morphol... |
ORPHA:91387 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Aplasia of the nasal bone, Hypospadias, Kyphoscoliosis, Micrognathia, Mi... |
OMIM:618820 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Hydrocephalus, Retrognathia |
ORPHA:2736 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pro... |
OMIM:616777 |
Noonan Syndrome 2 |
|
Short neck, Pectus carinatum, Abnormal sternum morphology, Atrial septal defect, Atrioventricular... |
OMIM:605275 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Sandal gap, Highly arched eyebrow... |
OMIM:270450 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Advanc... |
OMIM:614753 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Pectus carinatu... |
OMIM:245600 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Hydroce... |
ORPHA:268249 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Convex nasal ridge, Short neck, Micrognathia, Tibial bowing, Clinodactyly of the 5th finger, Micr... |
ORPHA:251028 |
Doors Syndrome |
|
11 pairs of ribs, Epicanthus, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe mo... |
ORPHA:79500 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Abnormal form of the vertebral bod... |
ORPHA:1106 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morp... |
ORPHA:2306 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial fistula, Arachnodacty... |
ORPHA:261330 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasi... |
ORPHA:3301 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati... |
OMIM:143095 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Pectus carinatum, Atrial septal defect, Finger syndactyly, Spars... |
ORPHA:464738 |
Warsaw Breakage Syndrome |
|
Epicanthus, Ventricular septal defect, Single transverse palmar crease, Hypoplasia of the cochlea... |
OMIM:613398 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Supernumerary tooth, Myelomeningocele, Wide nasal bridge, Ovarian ... |
OMIM:311200 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Hearing impairment, Patent ductus arteriosus, Prominen... |
OMIM:614609 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Short neck, Abnormality of the elbow, Abnormal rib morphology,... |
ORPHA:1486 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Prominent veins on trunk, Shoulder ... |
ORPHA:536532 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, Hemivertebrae, Abnormal fo... |
ORPHA:3107 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Midline central nervous system lipomas, Broad nasal tip, Bifid nasal tip, Meningoc... |
ORPHA:1827 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Inguinal hernia, Tapered finger, Flexion contracture, Hip dysplasia, Scolios... |
ORPHA:544503 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Ventricular septal defect, Abnormality of the kidney, Micrognathia, Bulbous nose, ... |
OMIM:606232 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati... |
OMIM:600001 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the ... |
OMIM:618828 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Cloacal abnormality, H... |
ORPHA:49 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, A... |
ORPHA:1915 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Micropenis, Microretrognathia, Finger synd... |
OMIM:200990 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... |
ORPHA:50945 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia, Abnormality of the ear |
OMIM:600776 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphos... |
ORPHA:583 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge |
ORPHA:438178 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Epicanthus, Telecanthus, Thick eyebrow, Ventricular septal defect, Highly a... |
OMIM:617360 |
Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Aspiration pneumonia, Cherry red spot of the macula, Hyper... |
ORPHA:354 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent ductus arteriosus,... |
OMIM:619769 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus carinatum, Protruding ear, Ao... |
OMIM:301039 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Kyphosis, Scoliosis, Atrial s... |
ORPHA:261190 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Abno... |
ORPHA:2519 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kidne... |
ORPHA:464306 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl... |
OMIM:613443 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Anteverted nares, Renal hypoplasia, Syringomyelia, Vesicoureteral reflux, Short ... |
OMIM:613735 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Split hand, Clubbin... |
OMIM:600460 |
Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Epicanthus, Ventricular septal defect, Thickened helices, P... |
OMIM:610733 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundum atrial septal def... |
OMIM:612562 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Thoracolumbar scoliosis, Lop ear, Pectus exc... |
OMIM:300472 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Depressed nasal bridge, Antever... |
OMIM:618161 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Atrial septal defect, Phocomelia, Multicystic kidney dysplasia, Aplas... |
ORPHA:2538 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst |
OMIM:605231 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Right aortic a... |
OMIM:617616 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Anteverted nares, Microg... |
ORPHA:46059 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Spinal cord compression, Atrophy of the spinal cord, Weakness of long fi... |
ORPHA:35125 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Hypercalciuria,... |
OMIM:614732 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm... |
ORPHA:2273 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, ... |
OMIM:224400 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu... |
ORPHA:2847 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... |
OMIM:617056 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
De Barsy Syndrome |
|
Congenital hip dislocation, Prominent veins on trunk, Coxa vara, Emphysema, Patent ductus arterio... |
ORPHA:2962 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Clinodactyly, Short palm, Micropenis, Duplication of the distal phalanx... |
OMIM:180700 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Keutel Syndrome |
|
Calcification of the auricular cartilage, Ventricular septal defect, Recurrent bronchitis, Short ... |
OMIM:245150 |
Schinzel-Giedion Syndrome |
|
Short neck, Micrognathia, Renal cyst, Tibial bowing, Choanal stenosis, Broad ribs, Micropenis, Hy... |
ORPHA:798 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Hypopla... |
OMIM:610682 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Protru... |
OMIM:301030 |
Filippi Syndrome |
|
Enlarged epiphyses, Wide nose, Finger syndactyly, Ventricular septal defect, Prominent nasal brid... |
ORPHA:3255 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Clinodactyly of the 5th finger, Finger syndactyly, Arachnodactyly, Ta... |
ORPHA:193 |
20Q11.2 Microduplication Syndrome |
|
Sacral dimple, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Micr... |
ORPHA:363659 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B... |
ORPHA:1465 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Uplifted... |
OMIM:616449 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, R... |
ORPHA:280200 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Renal agenesis, Partial anosmia, Total anosmia, Anomalous origin of left coronary artery from the... |
ORPHA:2326 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Wide nasal bridge, Thin ribs, Femoral bowing, Biconcave v... |
OMIM:617952 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Patent ductus arte... |
ORPHA:77298 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Sparse eyebrow, Hypoplasia of t... |
OMIM:252500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary ai... |
OMIM:243150 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Pectus carinatum, Thickened helices, Atrial septal defect, Patent foramen ovale, High... |
OMIM:617506 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Campt... |
ORPHA:920 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ... |
OMIM:612394 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Micrognathia, Coxa valga, Hydrocephalus, Hammertoe, Distal arthrogryposis... |
OMIM:619833 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Hypoplasia of penis, Anteverted nares, Femoral hernia, Renal insufficiency, Cono... |
ORPHA:96147 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, Short tibia, Atrio... |
ORPHA:2751 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose |
OMIM:300581 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Short nose |
OMIM:266810 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, Nephronophthisis, C... |
OMIM:266920 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, ... |
ORPHA:1812 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Underdeveloped nasal alae, Carious tee... |
OMIM:164200 |
Shprintzen-Goldberg Syndrome |
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Communicating hydrocephalus, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ... |
ORPHA:2462 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Weyers Acrofacial Dysostosis |
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Postaxial hand polydactyly, Postaxial foot polydactyly, Prominent antihelix, Short palm, Clinodac... |
OMIM:193530 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragmatic hernia, Sho... |
OMIM:601803 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Clinodactyly, Flexion contracture, Femoral bowing, Choanal stenosis, Vesicoureteral reflux, Micro... |
ORPHA:95699 |
Loeys-Dietz Syndrome 5 |
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Pectus carinatum, Atrial septal defect, Bilateral coxa valga, Patent foramen ovale, Scapular wing... |
OMIM:615582 |
Joubert Syndrome 23 |
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Sensorineural hearing impairment, Polydactyly |
OMIM:616490 |
Chromosome 15Q14 Deletion Syndrome |
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Ventricular septal defect, Posteriorly rotated ears, Highly arched eyebrow, Low-set ears, Atrial ... |
OMIM:616898 |
Waardenburg Syndrome Type 2 |
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Ptosis, Telecanthus, Aganglionic megacolon, Sensorineural hearing impairment, Abnormality of the ... |
ORPHA:895 |
Dermotrichic Syndrome |
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Short nose, Aminoaciduria, Depressed nasal bridge, Abnormal vertebral morphology |
ORPHA:99688 |
King-Denborough Syndrome |
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Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral ptosis, Th... |
OMIM:619542 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
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Short neck, Micrognathia, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Thoracic kyphos... |
OMIM:620250 |
9q subtelomeric deletion syndrome |
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Short nose, Anteverted nares, Abnormal heart morphology |
DECIPHER:52 |
Atelosteogenesis Type Ii |
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Cervical kyphosis, Micromelia, Short neck, Micrognathia, Short phalanx of finger, Hypoplastic cer... |
ORPHA:56304 |
Campomelia, Cumming Type |
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Multicystic kidney dysplasia, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia... |
ORPHA:1318 |
Aase-Smith Syndrome I |
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Ventricular septal defect, Abnormal pinna morphology, Hydrocephalus, Flexion contracture, Talipes... |
OMIM:147800 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Intraventricular hemorrh... |
OMIM:613603 |
Mend Syndrome |
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Microretrognathia, Sacral dimple, Crossed fused renal ectopia, Broad hallux, Prominent nasal brid... |
OMIM:300960 |
Acrocallosal Syndrome |
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Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia, Postaxial hand po... |
ORPHA:36 |
Cardiac Valvular Dysplasia 1 |
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Atrial septal defect, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricus... |
OMIM:212093 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
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Ventricular septal defect, Abnormal pinna morphology, Short neck, Pectus excavatum, Patent ductus... |
ORPHA:52055 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Hypoplasia of penis, Ventricular septal defect, Micromelia, Abnormal rib morphology, Hypoplastic ... |
ORPHA:2772 |
Cerebellar-Facial-Dental Syndrome |
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Inguinal hernia, Ventricular septal defect, Anteverted nares, Foot joint contracture, Short neck,... |
ORPHA:444072 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Vertebral fusion, Inguinal hernia, Syndactyly, Anteverted nares, Prominent nasal bridge, Down-slo... |
OMIM:227330 |
8P Inverted Duplication/Deletion Syndrome |
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Small hypothenar eminence, Anteverted nares, Dextrocardia, Short neck, Micrognathia, Long fingers... |
ORPHA:96092 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
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Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Oculocerebrocutaneous Syndrome |
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Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl... |
ORPHA:1647 |
Monosomy 9Q22.3 |
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Epicanthus, Short neck, Pectus excavatum, Palmar pits, Hydrocephalus, Kyphosis, Abnormal rib morp... |
ORPHA:77301 |
Feingold Syndrome |
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Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Patent duc... |
ORPHA:1305 |
Sillence Syndrome |
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Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Glutamine Deficiency, Congenital |
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Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Cam... |
OMIM:610015 |
Langer Mesomelic Dysplasia |
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Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Noonan Syndrome |
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Low-set, posteriorly rotated ears, Brachydactyly, Abnormal pulmonary valve morphology, Thickened ... |
ORPHA:648 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Narrow nasal bridge, Hyperextensibility of the finger joints, Ventricular septal defect, Prominen... |
OMIM:309520 |
Septooptic Dysplasia |
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Polydactyly, Optic nerve hypoplasia, Short finger |
OMIM:182230 |
Cat Eye Syndrome |
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Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Patent ductus arteriosus,... |
OMIM:115470 |
Isolated Anencephaly |
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Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
Diamond-Blackfan Anemia 10 |
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Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Morgag... |
OMIM:613309 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... |
OMIM:611773 |
Orofaciodigital Syndrome Type 1 |
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Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kidney dysplasia, Ab... |
ORPHA:2750 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Femoral bowing, Aortic valve stenosi... |
OMIM:615415 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor... |
ORPHA:666 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Anteverted nares, Slender long bone, Cubitus valgus, Short nose, Spina bifida occulta |
ORPHA:1185 |
Frontometaphyseal Dysplasia 1 |
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Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Depressed nasal bridge, Anteverted nares, Single transver... |
OMIM:614105 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short neck, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasi... |
OMIM:609053 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Short neck, Narrow chest, Atrial septal defect, Patent foramen ovale, Simple e... |
OMIM:613610 |
Atelis Syndrome 1 |
|
Glue ear, Ventricular septal defect, Bronchiectasis, Lumbar kyphosis, Microtia, Atrial septal def... |
OMIM:620184 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the hand, Abnormal... |
ORPHA:167635 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Congenital diaphrag... |
ORPHA:2260 |
Renpenning Syndrome |
|
Epicanthus, Pectus excavatum, Abnormal thumb morphology, Sensorineural hearing impairment, Abnorm... |
ORPHA:3242 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Telecanthus, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Valvular pul... |
OMIM:300707 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
Pycnodysostosis |
|
Brachydactyly, Aplastic clavicle, Micrognathia, Prominent nose, Absent frontal sinuses, Persisten... |
OMIM:265800 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Prominent nasal bridge, Ankle flexion contracture, Hypospadias, Unilat... |
ORPHA:464311 |
Trisomy 10P |
|
Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the kidney, Abnormali... |
ORPHA:171929 |
Coffin-Siris Syndrome 7 |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Posteriorly rot... |
OMIM:618027 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal pinna morphology, Facial palsy, Hyperlordosis, Abnormal rib morphology, Pectus carinatum... |
ORPHA:3068 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Hydroureter, Depressed nasal bridge... |
OMIM:259775 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ul... |
ORPHA:1358 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Sho... |
ORPHA:110 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ri... |
OMIM:156200 |
Feingold Syndrome Type 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ... |
ORPHA:391641 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Epicanthus, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocatio... |
ORPHA:2916 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Ververi-Brady Syndrome |
|
Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Transposition of the great arteries, Sc... |
OMIM:617982 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Absent thumb, Short neck, Patent ductus arteriosus, Hydrocephalus, Abn... |
OMIM:300514 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... |
OMIM:600920 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Abnor... |
ORPHA:453499 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Epidural hemorrhage, Abnormal pe... |
ORPHA:464329 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Pectus carinatum, Fin... |
ORPHA:363705 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... |
OMIM:619343 |
Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Anteverted nares, Toe syndactyly, Lumbosacral meningoc... |
OMIM:607330 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele, Postaxial polydactyly type A |
ORPHA:1003 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis... |
ORPHA:73246 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, Hearing impairment, Postaxial hand poly... |
OMIM:209900 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Ab... |
ORPHA:2167 |
Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Prea... |
OMIM:620072 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Depressed nasal bridge, Anteverted nares, Congenital diaph... |
OMIM:614080 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Single transverse pa... |
OMIM:614114 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, ... |
OMIM:270400 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Short neck, Bulbous nose, Transposition of the great arteries, Talipes eq... |
OMIM:616789 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Short neck, Micro... |
OMIM:610759 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anteverted nares, Short neck, Micrognathia, Absent radius, Ectop... |
ORPHA:233 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrogryposis multiplex congeni... |
OMIM:607598 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Short columella,... |
OMIM:182210 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Inguinal hernia, Sacral dimple, Heari... |
ORPHA:1620 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Short neck, Fetal pyelectasis, Adducted thumb, Short nose, Bilatera... |
ORPHA:50810 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Multicystic kidney dysplasia, Sandal gap, Prominent nasal bridge, Camptodactyly ... |
ORPHA:261349 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Aganglionic megacolon, Broad hallux, Shortening of all distal phalanges of ... |
OMIM:614749 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Ventricular septal defect, Micrognathia, Short neck, Thyroid lymphangiectasia, P... |
OMIM:235255 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Anteverted n... |
ORPHA:254346 |
Holoprosencephaly 14 |
|
Anteverted nares, Ventricular septal defect, Proboscis, Alobar holoprosencephaly, Aqueductal sten... |
OMIM:619895 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi... |
OMIM:613848 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Shallow orbits, Thickened helices, Broad ribs, Broad metacarpals, Short metacar... |
OMIM:608328 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge |
ORPHA:2835 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Ptosis, Telecanthus, Recurrent pneumonia, Abnormal heart morphology, Polydactyly, Aspiration pneu... |
ORPHA:314655 |
Prader-Willi Syndrome Due To Translocation |
|
Prominent nose, Short neck, Micrognathia, Clinodactyly of the 5th finger, Patent foramen ovale, A... |
ORPHA:177907 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Lon... |
ORPHA:447980 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Depressed nasal bridge, Diastasis recti, Short proximal phalanx of finger, Deep palma... |
OMIM:616638 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo... |
OMIM:601005 |
Alagille Syndrome 1 |
|
Long nose, Multiple small medullary renal cysts, Hemivertebrae, Vesicoureteral reflux, Atrial sep... |
OMIM:118450 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... |
OMIM:119600 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxill... |
OMIM:277600 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal... |
OMIM:619471 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Hydrocephalus, Wi... |
OMIM:601499 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... |
OMIM:618395 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Optic disc pallor, Cong... |
OMIM:244450 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis, Triphalangeal thumb, Cl... |
OMIM:149730 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Horseshoe kidney... |
OMIM:218350 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, Atrial sept... |
OMIM:619522 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Upper limb und... |
ORPHA:369837 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Proteinuria, Micrognathia, Hematu... |
OMIM:616901 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, H... |
OMIM:602398 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Short nos... |
OMIM:614069 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Atrial septal defect, Low-set, posteriorly rotated ears, Thoracolumba... |
ORPHA:480880 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subcutaneous lipoma, Hydrocephalus, Eyelid colob... |
OMIM:613001 |
Meier-Gorlin Syndrome 1 |
|
Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Pectus carinatum, ... |
OMIM:224690 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Anteverted nares, Choanal at... |
OMIM:301044 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Inguinal hernia, Multicystic kidney dysplasia, Anteverted nares, Promine... |
ORPHA:1454 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Renal malrotation, Depressed nasal bridge, Anteverted nares, Underdeve... |
OMIM:615866 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
Floating-Harbor Syndrome |
|
Prominent nose, Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephro... |
OMIM:136140 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Hemiver... |
ORPHA:85284 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, Atrial septal defect, Prominent fingertip pads, Vertebral... |
OMIM:610443 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Atrial sep... |
ORPHA:290 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi... |
ORPHA:107 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Abnormal nasal morphology, Cutaneo... |
OMIM:200110 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip |
OMIM:615716 |
Sotos Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad... |
OMIM:117550 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, Va... |
OMIM:616307 |
Tetrasomy 18P |
|
Large hands, Short nose, Scoliosis |
ORPHA:3307 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Abnormal dental ename... |
ORPHA:2050 |
Desmosterolosis |
|
Depressed nasal bridge, Renal agenesis, Micromelia, Abnormality of the nose, Micrognathia, Renal ... |
ORPHA:35107 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia |
OMIM:614744 |
Bohring-Opitz Syndrome |
|
Syndactyly, Sacral dimple, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, M... |
OMIM:605039 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Emphysema, Abnormal metaphysis m... |
ORPHA:436 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Scoliosis, Clinodactyly of the ... |
OMIM:618430 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Nephropathy, Nephrocalcinosis, Renal tubular acidosis, A... |
OMIM:208085 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Ventricular septal defect, Hearing impairment, Opt... |
ORPHA:494344 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Synophrys, Recurrent upper respiratory tract infections, Ovoid th... |
OMIM:252930 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Abnormal eyelid morphology, Cardiomegaly, Secu... |
OMIM:300855 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ri... |
OMIM:619698 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Neurogenic bladder, Short neck, Secundum atrial septal defect, Micrognathia, Perimembr... |
OMIM:608779 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... |
ORPHA:3097 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Aminoaciduria |
ORPHA:833 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect, Micrognathia |
OMIM:243440 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pu... |
ORPHA:709 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, D... |
ORPHA:1791 |
Faciocardiomelic Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Cuboid-shaped vertebral bodies, Dental ma... |
OMIM:612731 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Tapered finger, Patent ductus arteriosus, Subvalvular aortic... |
ORPHA:65286 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Pectus carinatum, Pseudoepiphyses, Conductive hearing impairment, Clinodac... |
OMIM:611962 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Atrial septal defect, Double ... |
ORPHA:1667 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ureteral stenosis, Ventricular septal defect, Single transverse palmar crease, Rocker... |
OMIM:272950 |
Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous... |
OMIM:616368 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Slender long bone, Scoliosis, Short ... |
ORPHA:561 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Broad femoral neck, Micrognathia, Bowing of the legs, Coxa... |
OMIM:617164 |
Aspergillosis |
|
Pneumonia, Dacryocystitis, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronchiectasis,... |
ORPHA:1163 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Downslanted palpebral fissures, Hip dysplasia, Hearing impairment |
ORPHA:195 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Met... |
ORPHA:261236 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Sensorineural hear... |
OMIM:618652 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Depressed nasal bridge, A... |
ORPHA:1512 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Down Syndrome |
|
Brachydactyly, Depressed nasal bridge, Sandal gap, Short neck, Renal hypoplasia/aplasia, Depresse... |
ORPHA:870 |
Tetrasomy 9P |
|
Short neck, Micrognathia, Clinodactyly of the 5th finger, Micropenis, Patent foramen ovale, Amelo... |
ORPHA:3310 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long toe, Tapered toe, Long-chain dic... |
OMIM:608836 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Pe... |
OMIM:225500 |
Radio-Tartaglia Syndrome |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Long eyebrows, Tapered finger, Cond... |
OMIM:619312 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, Micr... |
ORPHA:564 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... |
ORPHA:3138 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Triphalangeal t... |
OMIM:105650 |
X Small Rings |
|
Toe syndactyly, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Short neck, T... |
ORPHA:96201 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinos... |
OMIM:130650 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the ... |
ORPHA:581 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Cardiomegaly, Synophrys, Recurrent upper respiratory tract infections, Ovoid thor... |
OMIM:252920 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,... |
OMIM:173900 |
Nicolaides-Baraitser Syndrome |
|
Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Short phalan... |
OMIM:601358 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... |
OMIM:618774 |
Micro Syndrome |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Kyphosis, Wide nasal bridge, Abnormal locali... |
ORPHA:2510 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Downslanted palpebral fissures |
ORPHA:163681 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases |
OMIM:611936 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Short neck, Micrognathia, Ectopic kidney, Aplasia/Hypoplasia of ... |
ORPHA:96149 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Poster... |
OMIM:614294 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Carious teeth, Scol... |
OMIM:219200 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Inguinal hernia, Ventricular septal defect, Bowing of the legs, Long hallux, R... |
OMIM:617107 |
Immunodeficiency 49 |
|
Posteriorly rotated ears, Pulmonary artery stenosis, Upslanted palpebral fissure, Umbilical herni... |
OMIM:617237 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Monosomy 9P |
|
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Sh... |
ORPHA:261112 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Kyphosis, Pulmonic stenosis, Camptodactyly, Clinodactyly... |
OMIM:619123 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Hypospadias, Toe syndac... |
ORPHA:217346 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Patent duc... |
ORPHA:457193 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short hallux, Short neck, Hypoplasia of the maxilla, Si... |
OMIM:608156 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Omphalocele, Inguinal hernia, Ureteral duplication, Diastasis recti, Conge... |
ORPHA:116 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered f... |
ORPHA:2215 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Short nose, Clinodactyly |
OMIM:618087 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Wide nasal bridge, Clinodactyly of the 5th finger, Atria... |
OMIM:618067 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Mic... |
ORPHA:912 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... |
OMIM:122880 |
Ellis Van Creveld Syndrome |
|
Micromelia, Epispadias, Conical incisor, Atrial septal defect, Atrioventricular canal defect, Syn... |
ORPHA:289 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Aganglionic megacolon, Foot polydactyly, Sensorineural hearing impair... |
ORPHA:2155 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Short nose |
ORPHA:261144 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Metatarsus adductus, Abnormal heart morphology, Am... |
OMIM:214110 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Ventricular septal defect, ... |
ORPHA:85194 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Anteverted nares |
ORPHA:228384 |
Dysosteosclerosis |
|
Sclerotic scapulae, Increased intervertebral space, Optic atrophy, Abnormal metaphyseal trabecula... |
OMIM:224300 |
Bainbridge-Ropers Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Un... |
OMIM:615485 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Low-set, posterio... |
ORPHA:800 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Abnormal pulmonary valve morphology, ... |
ORPHA:667 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Synophrys, Large fleshy ears, Narrow chest, Atrial septal defect, Prominent superior ... |
ORPHA:280633 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Choanal atresia, Hy... |
ORPHA:163979 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Patent ductus a... |
OMIM:613457 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Patent ductus ... |
ORPHA:505248 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic herni... |
OMIM:219100 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Depressed nasal bridge, Hydrocephalus, Postaxial hand polydac... |
OMIM:608091 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Choanal atresia, Hypospadias, Micrognathia, Patent ductus arteriosus, ... |
OMIM:300712 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, 2-4 finger syndactyly, Ventricular septal defect, Choanal atresia, Hypospadia... |
OMIM:617063 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Underdeveloped nasal a... |
ORPHA:2315 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl... |
OMIM:119800 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Anteverted nares, Choanal atresia, Ventricular septal defect, M... |
OMIM:616975 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Wide nasal bridge, Scoliosis, Short nose, Patent foramen ovale, Hydroneph... |
OMIM:619179 |
Distal Deletion 9P |
|
Hypospadias, Short neck, Wide nasal bridge, Hernia, Short nose, Brachydactyly |
ORPHA:1642 |
Familial Visceral Myopathy |
|
Hydroureter, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Ara... |
ORPHA:2604 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Telecanthus, Toe syndactyly, Mitral atresia, Pulmonary artery stenosis, Hypoplasia of the radius,... |
ORPHA:140952 |
Peho Syndrome |
|
Short nose, Retrognathia, Tapered finger |
OMIM:260565 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Single transverse palmar crease, Anteverted ears, Protruding ear, Clinodactyly of the 5th finger,... |
ORPHA:459070 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short nose |
OMIM:616420 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Hypospadias, Single transverse palmar creas... |
OMIM:610253 |
Helsmoortel-Van Der Aa Syndrome |
|
Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Atrial septal defect, Prominent finge... |
OMIM:615873 |
Distal Deletion 19P |
|
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, K... |
ORPHA:96129 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Ventricular septal defect, Micrognathia, Short neck, Broad nasal tip, Pancreatic... |
ORPHA:1655 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Short neck, Tapered finger, Dental ma... |
OMIM:616202 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Hearing impairment, Short neck, Sensorineural hearing impairment, Abnor... |
OMIM:118100 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Anteverted n... |
OMIM:602782 |
Orofaciodigital Syndrome Type 5 |
|
Ectopic accessory finger-like appendage, Supernumerary tooth, Postaxial hand polydactyly, Postaxi... |
ORPHA:2919 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly... |
OMIM:615989 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Cervical cord co... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, Cervical cord co... |
ORPHA:353277 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti... |
ORPHA:90154 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Mitral valve prolapse, Diaphyseal dysplasia, Xanthelasma, Abnormal... |
ORPHA:137605 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocom... |
OMIM:268300 |
Aymé-Gripp Syndrome |
|
Pericarditis, Inguinal hernia, Depressed nasal bridge, Proteinuria, Congenital diaphragmatic hern... |
ORPHA:1272 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Short neck, Mi... |
OMIM:115150 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Micropenis, Hypospadias, Tapered finger, Supernumerary tooth, Scoliosis, Aortic valve stenosis, R... |
ORPHA:268261 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abno... |
ORPHA:96121 |
Geleophysic Dysplasia 1 |
|
Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypop... |
OMIM:231050 |
Congenital Myopathy 12 |
|
Arachnodactyly, Pulmonary artery stenosis, Jaw contracture, Camptodactyly, Overlapping fingers, J... |
OMIM:612540 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... |
ORPHA:139466 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Patent ductus arte... |
ORPHA:1556 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology, Abnormal rib morpholo... |
ORPHA:93941 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Pectus excavatum, Pulmonic stenosis, Scoliosis, Atrial sep... |
OMIM:615279 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Tapered finger, Bulbous nose, Wide nasal b... |
OMIM:615803 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi... |
OMIM:139210 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Short neck, Abnormal m... |
ORPHA:1340 |
Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Triphalangeal thumb, Hernia, Short nose, Short distal phalanx of finger |
ORPHA:1912 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose |
OMIM:300143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial ... |
OMIM:253800 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Renal arter... |
OMIM:162200 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, Clinodactyl... |
OMIM:268305 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Optic atrophy, Stroke, Atrial septal... |
ORPHA:49827 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Long ear, Aplasia... |
OMIM:276820 |
Toriello-Carey Syndrome |
|
Telecanthus, Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Short neck, Sp... |
ORPHA:3338 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
Manitoba Oculotrichoanal Syndrome |
|
Bifid nasal tip, Omphalocele, Broad nasal tip |
OMIM:248450 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... |
ORPHA:306542 |
Geleophysic Dysplasia 2 |
|
Mitral stenosis, Tricuspid stenosis, Ovoid vertebral bodies, Mitral valve prolapse, Short foot, C... |
OMIM:614185 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ... |
ORPHA:857 |
Grant Syndrome |
|
Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow... |
ORPHA:2097 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... |
ORPHA:1553 |
Kinsship Syndrome |
|
Mandibular prognathia, Sacral dimple, Single transverse palmar crease, Short neck, Micrognathia, ... |
OMIM:619297 |
Birt-Hogg-Dube Syndrome 1 |
|
Multiple lipomas, Renal cell carcinoma, Renal cyst, Renal neoplasm |
OMIM:135150 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture, Atrial septal... |
OMIM:606170 |
Restrictive Dermopathy |
|
Multiple joint contractures, Atrial septal defect, Sparse eyebrow, Patent ductus arteriosus, Spar... |
ORPHA:1662 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery... |
OMIM:100300 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Flexion contracture, Micropenis, Clinodactyly of the 5th finger, Sh... |
OMIM:614222 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Anteverted ears, Long thorax, Conjunctivitis, Narrow chest, Atrial... |
OMIM:616268 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Preaxial hand polydactyly, Wide na... |
ORPHA:1297 |
Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Overlapping toe, Mic... |
OMIM:613884 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala... |
OMIM:616835 |
Diphallia |
|
Ureteral duplication, Inguinal hernia, Renal malrotation, Hypospadias, Distal urethral duplicatio... |
ORPHA:227 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... |
OMIM:178600 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Short nose, Anteverted nares, Short neck |
ORPHA:884 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Bulbous no... |
OMIM:301022 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Sensorineural hearing impairment, Optic atroph... |
OMIM:249270 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Epicanthus, Ulnar deviation of the hand, Ventricular septal defect, Single tra... |
OMIM:214100 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Posteriorly rotated ears, Synophrys, Long eyelashes, Talipes equinovar... |
OMIM:614961 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia |
OMIM:234050 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Short nose |
OMIM:242860 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... |
OMIM:263200 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Epicanthus, Toe syndactyly, Palpebral edema, Ventricular septal defect, Campto... |
ORPHA:261337 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Epicanthus, Ventricular septal defect, Optic neuropathy, Increased interve... |
OMIM:619727 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa... |
ORPHA:217085 |
Amme Complex |
|
Inguinal hernia, Depressed nasal bridge, Diastasis recti, Sandal gap, Clinodactyly of the 2nd toe... |
OMIM:300194 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic acetabulae, Fem... |
OMIM:620076 |
Charge Syndrome |
|
Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Hypoplasia of the... |
ORPHA:138 |
Myhre Syndrome |
|
Brachydactyly, Inguinal hernia, Femoral hernia, Hearing impairment, Large iliac wing, Abnormal ri... |
ORPHA:2588 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Prune belly, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Short nose |
OMIM:617802 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Upper limb asym... |
ORPHA:90308 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Sandal gap, Single transverse palmar crease... |
OMIM:613177 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Posteriorly rotated ears, Pectus ex... |
ORPHA:79329 |
Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Proteinuria, Nephropathy, Nephrocalcinosis, Renal tubular acidosis, Am... |
OMIM:613404 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Abnormal pinna morphology, Symblepharon, Broad femoral neck, Short neck, Abnormal ri... |
ORPHA:488434 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Short neck, Patent ductus arteriosus, Bulbous nos... |
ORPHA:2328 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Mic... |
ORPHA:521426 |
Joubert Syndrome 1 |
|
Anteverted nares, Postaxial hand polydactyly, Renal cyst, Occipital myelomeningocele, Postaxial f... |
OMIM:213300 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Ventricular septal defect, Congenital pulmonary airway malformation |
ORPHA:436252 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hypospadias, Single transverse p... |
ORPHA:1449 |
Werner Syndrome |
|
Lipodystrophy, Rocker bottom foot, Abnormal cerebral vascular morphology, Lipoatrophy, Abnormal t... |
ORPHA:902 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Short thumb, Patent du... |
OMIM:227646 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Hypospadias, Coarctation of aorta, Abnormal aortic mo... |
ORPHA:1923 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Anterior rib cupping, Micro... |
OMIM:211350 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Cervical cord compression, Atr... |
ORPHA:353281 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hypoplastic fr... |
ORPHA:560 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Flexion contracture, Scoliosis, Short nose |
OMIM:615851 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... |
OMIM:619909 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Inguinal hernia, Tethered cord, Anteverted nares, Depressed nasal bridge, Br... |
OMIM:618332 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa... |
ORPHA:217093 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Pectus excavatum, Narrow chest, Pulmonic ste... |
OMIM:615102 |
Ulbright-Hodes Syndrome |
|
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morphology, S... |
ORPHA:3404 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morp... |
ORPHA:457279 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Coarctation of aorta, Abnormal heart morpho... |
ORPHA:261183 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Coxa valga,... |
OMIM:212066 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev... |
OMIM:300912 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Depressed nasal bridge, Thoracolumbar scoliosis, Choanal atresia, Hiatus hernia, Pancreatic cysts... |
OMIM:610199 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestio... |
OMIM:616037 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Short neck, Congenital contracture, Wrist flexion contracture, Elbow ankylosis... |
OMIM:208150 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, D... |
OMIM:616559 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... |
OMIM:164210 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ... |
OMIM:614922 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Laurence-Moon Syndrome |
|
Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Micropen... |
OMIM:618021 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Scoliosis,... |
OMIM:614207 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Ventricular septal defect, Aganglionic megacolon, Highly arched eyebrow, Tapered fin... |
OMIM:609460 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Hypoplasia of the maxilla, Patent ductus arteriosus, Wide... |
OMIM:106260 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Gapo Syndrome |
|
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Micrognathia, Retinal arteriolar... |
OMIM:230740 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Long nose, Hydrocephalus, Slender long bone, Scoliosis, Malar flattening,... |
OMIM:618590 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,... |
OMIM:613795 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, Hydrocephalus, Flexion contracture, Malar flattening, Short nos... |
ORPHA:2836 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Broad nasal tip, Ca... |
ORPHA:357074 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn... |
ORPHA:1506 |
Orofaciodigital Syndrome Xv |
|
Postaxial hand polydactyly, Broad hallux, Low-set ears, Duplication of phalanx of hallux |
OMIM:617127 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Depressed nasal bridge, Hyperlordosis, Glutaric aciduria, Lacticaciduria, Abnor... |
ORPHA:26791 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Micrognathia, Dental malocclusion, Contractures of the large joints, Scoliosis, Short nose |
ORPHA:329178 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Ab... |
ORPHA:2331 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Clinodactyly, Syringomyelia, ... |
ORPHA:357001 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Depressed n... |
OMIM:619103 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... |
ORPHA:141127 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Narrow chest, Bilateral coxa valga, Clinodactyly of the 5th finger, Simple ear, Patent... |
OMIM:618268 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Kyphosis, Incr... |
OMIM:619005 |
Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Apl... |
ORPHA:3474 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Depressed nasal bridge, Proteinuria, Pericardial effusion, Kyphosis, Abnormal subcu... |
OMIM:212065 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri... |
OMIM:616430 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Inguinal hernia, Ventricular septal defect, Anteverted nares, Hy... |
OMIM:300000 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Single naris, Renal cyst, Short ribs, Hyperechogenic kidn... |
OMIM:615636 |
Adnp Syndrome |
|
Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpholo... |
ORPHA:404448 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Single transverse palmar crease, Micrognathia, Metatarsus... |
OMIM:614866 |
Degcags Syndrome |
|
Prominent nose, Micrognathia, Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ov... |
OMIM:619488 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Arachnodactyly, Scarring, Diastasis recti, Hiatus hernia, Mitral valve prolaps... |
OMIM:601776 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Epicanthus, Ventricular septal defect, Diastasis recti, Short neck, ... |
ORPHA:488632 |
Joubert Syndrome 27 |
|
Polydactyly, Dilatation of the renal pelvis |
OMIM:617120 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Retrognathia, Vesicoureteral reflux, Double inlet left vent... |
OMIM:619869 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Pectus carinatum, At... |
OMIM:218040 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... |
ORPHA:364577 |
Noonan Syndrome 1 |
|
Short neck, Abnormal sternum morphology, Atrial septal defect, Patent ductus arteriosus, Pulmonic... |
OMIM:163950 |
Aneurysm-Osteoarthritis Syndrome |
|
Abdominal aortic aneurysm, Arachnodactyly, Arterial tortuosity, Patent ductus arteriosus, Scolios... |
ORPHA:284984 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Concave nasal ridge, Short nose |
OMIM:170100 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Prominent inter... |
OMIM:135900 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment |
ORPHA:2578 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Depressed nasal bridge, Renal cyst |
OMIM:614862 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Mosaic Variegated Aneuploidy Syndrome |
|
Wide nose, Multicystic kidney dysplasia, Micrognathia, Depressed nasal ridge, Coarctation of aort... |
ORPHA:1052 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Unilateral rena... |
OMIM:113650 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Talipes equinovarus, Mitral stenosis,... |
OMIM:617260 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Highly arched eyebrow, Proximal placement of t... |
ORPHA:261250 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Atrial septal defect, Vesicouretera... |
OMIM:194050 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Tetralogy of Fallot, Varic... |
OMIM:153400 |
Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Proximal placement of thumb, Clinodactyly, Intracranial hemorrha... |
OMIM:613406 |
Arima Syndrome |
|
Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Hematuria, Pos... |
OMIM:243910 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Sh... |
OMIM:612474 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Patent ductus arteriosus, Choanal stenosis, Atrial septal defect, Short nose, M... |
ORPHA:1790 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Congenital diaphragmatic hernia, Proxi... |
ORPHA:199 |
Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly |
OMIM:617757 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Short metacarpal, Depressed nasal bridge, Anteverted nares, Recurrent urinary trac... |
OMIM:617157 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Finger clinodactyly, Scoliosis, Campt... |
OMIM:601353 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Flexion contracture, Micropenis, Short nose, Clinodactyl... |
OMIM:614225 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wid... |
OMIM:616920 |
Syndromic Diarrhea |
|
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Wide... |
ORPHA:84064 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Anteverted nares, Prominen... |
ORPHA:769 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Palmoplantar kera... |
OMIM:604173 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Inguinal hernia, Entropion, Hypoplasti... |
OMIM:617403 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella |
OMIM:617865 |
Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Mandibular prognathia, Inguinal hernia, Aspartylglucosaminuria, Abno... |
ORPHA:93 |
Autosomal Dominant Cutis Laxa |
|
Ptosis, Inguinal hernia, Dilatation of the ventricular cavity, Adducted thumb, Hip dislocation, B... |
ORPHA:90348 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hearing impairment |
OMIM:616277 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo... |
ORPHA:828 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abn... |
ORPHA:2719 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Hydrocephalus, Red-brown urine, Renal t... |
ORPHA:228308 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri... |
OMIM:268400 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Sparse eyebrow, Postaxial hand p... |
ORPHA:66625 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Intracranial hemorrhage, Arteriovenous malformation, S... |
ORPHA:109 |
Noonan Syndrome 3 |
|
Epicanthus, Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Pectus excava... |
OMIM:609942 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Preaxial hand polydactyly, Contractures of the large joints, Ch... |
ORPHA:96179 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, Micrognathia |
ORPHA:452 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Short distal phalanx of finger |
OMIM:277450 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Anteverted nares, Hypospadias, Micrognathia, Hip subluxation, Patent d... |
ORPHA:444077 |
Mosaic Trisomy 8 |
|
Abnormal pinna morphology, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib mo... |
ORPHA:96061 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Single transverse palmar crease, Flexion contracture, Limb undergrowth... |
ORPHA:79243 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Nephroblastoma, Ventricular septal defect, Short neck |
OMIM:610832 |
Myopathy With Extrapyramidal Signs |
|
Epicanthus, Ventricular septal defect, Short neck, Optic atrophy, Ptosis |
OMIM:615673 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Abnormality of the kidney |
OMIM:613464 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Hypoplasia of the abdominal wall musc... |
OMIM:612289 |
Isolated Posterior Meningocele |
|
Tethered cord, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis,... |
ORPHA:268810 |
Ctcf-Related Neurodevelopmental Disorder |
|
Prominent fingertip pads, Sacral dimple, Inguinal hernia, Anteverted nares, Single transverse pal... |
ORPHA:363611 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Prominent nasal bridge, Scoliosis |
OMIM:617635 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f... |
ORPHA:2920 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Hypospadias, Micrognathia, Short neck, Patent ductus arteriosus, Wide nasal bri... |
ORPHA:2282 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Short nose |
OMIM:617988 |
Costello Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal dental enamel morphology, Short neck,... |
ORPHA:3071 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Inguinal hernia, Dermatochalasis, Dilatation of the ventric... |
ORPHA:90349 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Broad n... |
OMIM:618846 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Missing ribs,... |
OMIM:184705 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Telecanthus, Abnormal eyelash morphology, Scoliosis, Downslanted palpebral fissures,... |
ORPHA:3164 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Hypospadias, Micrognathia, Situs inversus total... |
OMIM:309500 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Wide nasal bridge, Renal cyst, Epiphyseal stippling, Convex nasal ridge |
OMIM:601539 |
Orofaciodigital Syndrome Xvi |
|
Inguinal hernia, Postaxial hand polydactyly, Postaxial foot polydactyly, Low-set ears, Short palp... |
OMIM:617563 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... |
ORPHA:2752 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum... |
OMIM:258850 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Wide nose, Renal agenesis, Choanal atresia, Micromelia, Micrognathia, Camptoda... |
ORPHA:2753 |
Cystic Echinococcosis |
|
Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Abnormality of the v... |
ORPHA:400 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch... |
ORPHA:93317 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Abnormality of the hand, Tapered finge... |
ORPHA:319182 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal e... |
ORPHA:2769 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Nasal polyposis, Abnormality of the nose, Enlarged polycystic ovaries, Abno... |
ORPHA:2869 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia |
OMIM:211890 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Anteverted nares, Hypospadias, Epispadias, Abnormality of the ureter, ... |
ORPHA:3339 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomeru... |
ORPHA:534 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Ventricular septal defect, Renal agenesis, Absent thumb, Absent rad... |
OMIM:227645 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... |
ORPHA:411709 |
D-Bifunctional Protein Deficiency |
|
Depressed nasal bridge, Micrognathia, Split hand, Renal cyst, Hammertoe, Talipes equinovarus, Ret... |
OMIM:261515 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Epicanthus, Inguinal hernia, Ventricular septal defect, Posteriorly rotated ears, Short neck, Abn... |
OMIM:607721 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Inguinal hernia, Anteverted nares, Diastasis recti, Micrognathia, Broad nasal tip, Renal cortical... |
OMIM:618548 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Ulnar deviation of the wrist, Epiphyseal stippling o... |
ORPHA:56305 |
Monosomy 13Q34 |
|
Epicanthus, Posteriorly rotated ears, Postaxial hand polydactyly, Abnormal earlobe morphology, Po... |
ORPHA:96168 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Short neck, Wide nasal bridge, Camptodacty... |
ORPHA:251038 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Ureteral... |
OMIM:208540 |
Transaldolase Deficiency |
|
Ventricular septal defect, Depressed nasal bridge, Short neck, Patent ductus arteriosus, Coarctat... |
OMIM:606003 |
Gomez-Lopez-Hernandez Syndrome |
|
Malar flattening, Short nose, Anteverted nares |
OMIM:601853 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Tapered finger, Wide nasal bridge, R... |
OMIM:601088 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Protruding ear, Atrial septal defect, Prominent fingertip pads, Recur... |
OMIM:147920 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation |
OMIM:619083 |
Proteus Syndrome |
|
Abnormal finger morphology, Abnormal form of the vertebral bodies, Renal cyst, Clinodactyly of th... |
ORPHA:744 |
Trichothiodystrophy |
|
Epicanthus, Multiple joint contractures, Ventricular septal defect, Recurrent bronchopulmonary in... |
ORPHA:33364 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Lymphangiectasis, Renal cyst |
OMIM:602579 |
Den Hoed-De Boer-Voisin Syndrome |
|
Sandal gap, Ventricular septal defect, Posteriorly rotated ears, Small hand, 2-3 toe syndactyly, ... |
OMIM:619229 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Hypospadias, Overlapping toe, Broad nasal tip, Micrognathia, Tapered fing... |
OMIM:309590 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micromelia, Hydrocephalus, Postaxial hand polydactyly, Anencep... |
ORPHA:2189 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Toe syndactyly, Broad hallux, Underfolded helix, Type A brachydactyly, Postaxial hand... |
OMIM:620107 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Short neck... |
ORPHA:124 |
Alveolar Echinococcosis |
|
Low back pain, Abnormal pelvis bone morphology, Abnormal pericardium morphology, Pancreatic cysts... |
ORPHA:284 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia... |
ORPHA:1974 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, Scoliosis, Short nose |
OMIM:300749 |
Bladder Exstrophy And Epispadias Complex |
|
Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal p... |
OMIM:600057 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Kyph... |
OMIM:610915 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Protruding ear, Hip dysplasia, P... |
OMIM:618798 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Coffin-Siris Syndrome 12 |
|
Synophrys, Protruding ear, Patent foramen ovale, Simple ear, Facial palsy, Highly arched eyebrow,... |
OMIM:619325 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Sandal gap, Broad nasal tip, Short neck, Long f... |
OMIM:620330 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cran... |
OMIM:229400 |
Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Cardiomegaly, Arthrogryposis multiplex co... |
OMIM:608013 |
Hyperlysinemia |
|
Recurrent pneumonia, Pulmonary artery hypoplasia, Thin eyebrow, Hypoplasia of the antihelix, Hypo... |
ORPHA:2203 |
Occipital Horn Syndrome |
|
Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Broad clavicles, Pectus excavatum,... |
OMIM:304150 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose |
OMIM:613038 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Micrognathia, Cardiomegaly, Prominent nose, Patent ductus arteriosus, ... |
ORPHA:96191 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Abnormal tibia morphology, Atrial septal defect, Abnormal dental pulp mo... |
ORPHA:363700 |
Branchiooculofacial Syndrome |
|
Preaxial hand polydactyly, Depressed nasal bridge, Hypospadias, Renal agenesis, Hyperlordosis, Sh... |
OMIM:113620 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bi... |
ORPHA:522077 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Renal cyst, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal cell c... |
OMIM:191100 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Short humerus, Short femur, Patent ductus arteriosus, Flexion c... |
ORPHA:17 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Narrow chest, Small earlobe, Genu... |
OMIM:264090 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Anteverted nares, Tricuspid stenosis, Micrognathia, Short thumb, Short... |
OMIM:164280 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Ing... |
ORPHA:83617 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Cadds |
|
Short nose, Micrognathia |
ORPHA:369942 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Lipoatrophy, Absent eyelashe... |
ORPHA:363618 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short neck,... |
OMIM:261540 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead... |
ORPHA:89936 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Broad hallux, Deviation of the hallux, Short neck, ... |
ORPHA:434179 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplas... |
OMIM:608670 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Polydactyly |
OMIM:616562 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Ventricular septal defect, Bronchiectasis, Uterine prolapse, Emphysema, Peripher... |
OMIM:123700 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Ventricular septal defect, Thoracolumbar scoliosis, Patent ductus arterio... |
OMIM:301068 |
Macrocephaly/Autism Syndrome |
|
Short nose, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling |
OMIM:605309 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly, Ptosis |
OMIM:617622 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Prominent nose, Long nose, Micrognathia, Bulb... |
ORPHA:3047 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Uplifted earlobe, Pectu... |
OMIM:235730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital encephaloc... |
OMIM:615287 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Left ventricular noncompaction car... |
OMIM:300967 |
Acrofacial Dysostosis, Weyers Type |
|
Postaxial hand polydactyly, Small hand, Abnormal antihelix morphology, Clinodactyly of the 5th fi... |
ORPHA:952 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Sprengel anomaly, Abnormality of the vertebral column, Abnormal ri... |
OMIM:601076 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub... |
ORPHA:99646 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
White-Kernohan Syndrome |
|
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Horseshoe kidne... |
OMIM:619426 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, O... |
OMIM:614947 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Ankyloblepharon, Poplitea... |
ORPHA:1300 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces... |
OMIM:130050 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Sensorineural hearing... |
OMIM:619575 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Abnormality of the orbital region, A... |
ORPHA:42775 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p... |
OMIM:236700 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... |
ORPHA:93111 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... |
ORPHA:141099 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Absence Of The Pulmonary Artery |
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Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Short finger, Ureterocele, B... |
ORPHA:1934 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Depressed nasal bridge, Anteverted nares, Hypospadias, Short neck, Broad nasal tip, Micrognathia,... |
ORPHA:495875 |
Pyknoachondrogenesis |
|
Palpebral edema, Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac ... |
ORPHA:3003 |
Trichohepatoenteric Syndrome 1 |
|
Wide nose, Anteverted nares, Ventricular septal defect, Hypospadias, Avascular necrosis of the ca... |
OMIM:222470 |
Distal Renal Tubular Acidosis |
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Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Deeah Syndrome |
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Cervical hemivertebrae, Overlapping fingers, Short neck, Micropenis, Scoliosis, Prominent nasal t... |
OMIM:619004 |
Histiocytoid Cardiomyopathy |
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Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renal cyst, Stroke-like episode, Polycyst... |
ORPHA:137675 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Calcaneo... |
ORPHA:261552 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... |
ORPHA:369929 |
Sotos Syndrome |
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Flexion contracture, Conductive hearing impairment, Atrial septal defect, Chronic otitis media, A... |
ORPHA:821 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Calcaneo... |
ORPHA:261537 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Wide nose, Inguinal hernia, Ventricular septal defect, Membranoproliferative glomerulonephritis, ... |
OMIM:619525 |
Congenital Gerbode Defect |
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Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Nephronophthisis 4 |
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Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Hiatus hernia, Overlapping toe, Pate... |
OMIM:616682 |
Digeorge Syndrome |
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Renal dysplasia, Pilonidal sinus, Inguinal hernia, Ventricular septal defect, Femoral hernia, Ren... |
OMIM:188400 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Calcaneo... |
ORPHA:2152 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Renal insufficiency, Depressed nasal bridge, Hypospadias, Urolithiasis, Hyperuricosuria, Short no... |
OMIM:300661 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Papilledema, Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persis... |
OMIM:618775 |
Culler-Jones Syndrome |
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Postaxial polydactyly |
OMIM:615849 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Single... |
OMIM:309801 |
Dend Syndrome |
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Clinodactyly of the 4th finger, Short nose, Anteverted nares |
ORPHA:79134 |
Fibrous Dysplasia Of Bone |
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Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Osteoporosis-Pseudoglioma Syndrome |
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Barrel-shaped chest, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, T... |
OMIM:259770 |
Tuberous Sclerosis 2 |
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Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Pulmonary lym... |
OMIM:613254 |
Choanal Atresia |
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Nasal congestion, Polydactyly, Chronic sinusitis |
ORPHA:137914 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Dark urine, Renal cyst |
ORPHA:79303 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Epicanthus, Ventricular septal defect, Low-set ears |
OMIM:618325 |
Neuromuscular Oculoauditory Syndrome |
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Knee flexion contracture, Multiple renal cysts, Talipes equinovarus, Reduced renal corticomedulla... |
OMIM:618733 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Bicuspid aortic valve, Single transverse palmar crease, Abnormal curvature of the vert... |
OMIM:619475 |
Lymphangioleiomyomatosis |
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Abnormal urinary color, Renal neoplasm, Hydrocephalus, Chylopericardium, Hematuria, Pulmonary lym... |
ORPHA:538 |
Bardet-Biedl Syndrome 21 |
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Postaxial hand polydactyly |
OMIM:617406 |
Atypical Werner Syndrome |
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Abnormal cerebral vascular morphology, Finger clinodactyly, Short palm, Premature arteriosclerosi... |
ORPHA:79474 |
Laubry-Pezzi Syndrome |
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Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Sensorineural hearing impairment, Re... |
ORPHA:209905 |
Trichothiodystrophy 1, Photosensitive |
|
Short nose, Retrognathia, Flexion contracture, Absence of subcutaneous fat |
OMIM:601675 |
Alzahrani-Kuwahara Syndrome |
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Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi... |
OMIM:619268 |
Congenital Disorder Of Glycosylation, Type It |
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Ventricular septal defect, Micrognathia, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aor... |
OMIM:614921 |
Polydactyly, Postaxial, Type A6 |
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Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares |
OMIM:103050 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc... |
ORPHA:2237 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... |
OMIM:252160 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Epicanthus, Short femur, Ventricular septal defect, Genu valgum, Microtia, Downslanted palpebral ... |
OMIM:617798 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Orotic Aciduria |
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Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
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Hearing abnormality, Abnormality of the pulmonary artery |
ORPHA:1065 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hydrocephalus, Flexion contracture, Renal hypoplasia, Micropenis, Genu valgum, Short nose, Convex... |
OMIM:619321 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Posteriorly rotated ears, Single transverse... |
OMIM:607932 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Hypospadias |
OMIM:612528 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Prominent nasal bridge, Kyphoscoli... |
ORPHA:466791 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Atrial septal... |
ORPHA:26793 |
Von Hippel-Lindau Disease |
|
Back pain, Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, R... |
ORPHA:892 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Metatarsus add... |
ORPHA:513456 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Almond-sha... |
ORPHA:438213 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Pancreatic cysts, Depresse... |
ORPHA:731 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Hearing impairment, Abnormal rib morphology, Palmopla... |
ORPHA:2907 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Spinal hemangioblastoma, Renal cell carcinoma, Multiple renal cysts, Epididymal... |
OMIM:193300 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Single transverse palmar crease, Ureterocele |
OMIM:614863 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Micrognathia, Broad nasal tip |
ORPHA:293948 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Sensorineural hearing impairment, Proximal placeme... |
ORPHA:139471 |
Leigh Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, G... |
ORPHA:506 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect, Wide nasal bridge, Depressed nasal tip |
OMIM:619306 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Aplastic clavicle, Elb... |
ORPHA:2554 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Sensorineural hearing impairment, Coarctation of aorta, Hypoplastic le... |
OMIM:618748 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont... |
OMIM:305100 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, Mitral valve... |
OMIM:175050 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Cardiomy... |
ORPHA:699 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contractur... |
ORPHA:2908 |
Liver Disease, Severe Congenital |
|
Inguinal hernia, Recurrent urinary tract infections, Depressed nasal bridge, Left atrial enlargem... |
OMIM:619991 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Flexion contracture, Corneal scarring, Talipes equinovarus, Low-set ea... |
OMIM:614653 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Multiple pulmonary cysts, Epicanthus, Ventricular septal defect, Bilateral sensorineural hearing ... |
OMIM:619418 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Osteoporosis of ve... |
ORPHA:95494 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Vertigo, Clubbing, Aortopulmonary window, Ab... |
ORPHA:97214 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Pmm2-Cdg |
|
Mandibular prognathia, Pericarditis, Multiple joint contractures, Anteverted nares, Prominent nas... |
ORPHA:79318 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Prominent antihelix, Holoprose... |
OMIM:610829 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Transient ischemic attack, Pulmonary arteriovenous malformation, Cer... |
OMIM:610655 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Underdeveloped nasal alae, Situs ... |
OMIM:243800 |
Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |