| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Vertebral fusion, Hypoplastic... |
OMIM:618845 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... |
OMIM:609813 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Ventricular septal defect, Atrial septal defect, Abnormal mitral ... |
ORPHA:1354 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Pectus excavatum, Abnormality of the odontoid process, Scoliosis, Vertebr... |
OMIM:613686 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... |
ORPHA:1209 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Short neck, Death in infancy, Hemivertebra... |
OMIM:277300 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Poland Syndrome |
|
Dextrocardia, Short ribs, Syndactyly, Hemivertebrae, Unilateral oligodactyly, Sprengel anomaly, U... |
OMIM:173800 |
| 16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Hand polydactyly, Coarctation of aorta, Atrial septal defect, Tetralogy of Fall... |
ORPHA:261243 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Posteri... |
ORPHA:1797 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Scoliosis, Short thorax, Short neck, Meningocele, Umbilical hernia, Fing... |
ORPHA:2311 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Congenital malformation of the great arteries, Polydactyly, Abnormality of the vertebral column, ... |
ORPHA:294975 |
| Spondylocostal Dysostosis 5 |
|
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... |
OMIM:122600 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Pectus excavatum, Scoliosis, Aortic root aneurysm, Cerebral cavern... |
OMIM:619910 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Kyphosis, Pectus carinatum, Spina bifida occulta, Supernumerary ribs... |
ORPHA:64755 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Scoliosis, Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, C... |
ORPHA:3268 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pectus excavatum, Pulmonic stenosis, Perimembranous ventricular septal defect, Clinodactyly of th... |
OMIM:617877 |
| Basal Cell Nevus Syndrome 1 |
|
Cardiac fibroma, Down-sloping shoulders, Scoliosis, Vertebral fusion, Polydactyly, Spina bifida, ... |
OMIM:109400 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Scoliosis, Pectus excavatum, Ventricular septal defect, Abnormal cardiac... |
ORPHA:1937 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Ventricul... |
ORPHA:2345 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Missi... |
OMIM:220210 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Hand polydactyly, Absent radius, Hydrocephalus, Abnormality of the v... |
OMIM:314390 |
| Diabetic Embryopathy |
|
Abnormal sacrum morphology, Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Hy... |
ORPHA:1926 |
| Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphology, Hip dysplasia, Preaxial ... |
ORPHA:1988 |
| Verheij Syndrome |
|
Scoliosis, Vertebral fusion, Hip dislocation, Ventricular septal defect, Short neck, Hemivertebra... |
OMIM:615583 |
| Holt-Oram Syndrome |
|
Scoliosis, Abnormality of the humerus, Hypoplastic left heart, Ventricular septal defect, Atrial ... |
ORPHA:392 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Criss-Cross Heart |
|
Pulmonic stenosis, Ventricular septal defect, Abnormal mitral valve morphology, Tricuspid stenosi... |
ORPHA:1461 |
| Cerebrofaciothoracic Dysplasia |
|
Scoliosis, Short neck, Hemivertebrae, Narrow chest, Sprengel anomaly, Vertebral segmentation defe... |
ORPHA:1394 |
| Conotruncal Heart Malformations |
|
Coarctation of aorta, Postaxial polydactyly, Complete atrioventricular canal defect, Double outle... |
OMIM:217095 |
| Fetal Trimethadione Syndrome |
|
Scoliosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of... |
ORPHA:1913 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Coarctation of aorta, Short thumb, Atrial septal defect, Spina bi... |
ORPHA:1120 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... |
OMIM:231060 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, O... |
OMIM:609052 |
| Carpenter Syndrome 1 |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Preaxial foot po... |
OMIM:201000 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... |
ORPHA:860 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... |
OMIM:613854 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Long thorax, Hydrocephalus, K... |
ORPHA:2635 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Ventricular septal defect, Short neck, Abnormal aortic morphology... |
ORPHA:2516 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... |
OMIM:306955 |
| Recombinant Chromosome 8 Syndrome |
|
Pectus excavatum, Scoliosis, Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of... |
OMIM:179613 |
| Metatropic Dysplasia |
|
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... |
OMIM:156530 |
| 8P23.1 Microdeletion Syndrome |
|
Enlarged thorax, Hypoplastic left heart, Tetralogy of Fallot, Short neck, Atrioventricular canal ... |
ORPHA:251071 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus, Syndactyly |
OMIM:215850 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Scoliosis, Atrial septal defect, Ventricular septal de... |
ORPHA:1388 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Butterfly vertebrae, Coarctation of aorta, Camptodactyly of finger, Sho... |
ORPHA:2876 |
| Sprengel Deformity |
|
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif... |
OMIM:184400 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Scoliosis, Vertebral fusion, Short neck, Atrial septal defect, Overlapping toe,... |
OMIM:213980 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Mis... |
ORPHA:66637 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Pulmonary artery atresia, Short thumb, Atrial septal defect, Ventricular septal defect, Dislocate... |
ORPHA:401935 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... |
OMIM:613751 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Lef... |
ORPHA:185 |
| Nemaline Myopathy 9 |
|
Narrow chest, Scoliosis, Ventricular septal defect |
OMIM:615731 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Short Rib-Polydactyly Syndrome |
|
Situs inversus totalis, Abnormal long bone morphology, Absent or minimally ossified vertebral bod... |
ORPHA:1505 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hip dislocation, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect, P... |
ORPHA:508498 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... |
OMIM:616749 |
| Perching Syndrome |
|
Cyanosis, Camptodactyly, Scoliosis |
OMIM:617055 |
| Emanuel Syndrome |
|
Scoliosis, Congenital hip dislocation, Pulmonic stenosis, Ventricular septal defect, Atrial septa... |
ORPHA:96170 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Scoliosis, Pectus excavatum, Atrial septal defect, Tetralogy of Fallot,... |
OMIM:618316 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Ventricular septal defect, Syndactyly, Cutis marmorata, Truncus arteriosus, Br... |
OMIM:616589 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Death in infancy,... |
OMIM:617405 |
| Endosteal Hyperostosis, Worth Type |
|
Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening, Sclerotic vertebral body, A... |
ORPHA:2790 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Overlapp... |
OMIM:617478 |
| Aicardi Syndrome |
|
Scoliosis, Butterfly vertebrae, Spina bifida, Proximal placement of thumb, Missing ribs, Hemivert... |
OMIM:304050 |
| Kyphomelic Dysplasia |
|
Lateral clavicle hook, Abnormal metaphysis morphology, Missing ribs, Flat acetabular roof, Anteri... |
ORPHA:1801 |
| Vater/Vacterl Association |
|
Scoliosis, Absent radius, Short thumb, Tetralogy of Fallot, Ventricular septal defect, Spina bifi... |
OMIM:192350 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Ventricular septal defect, Short neck, Proximal placement of thum... |
ORPHA:93267 |
| 22Q11.2 Duplication Syndrome |
|
Scoliosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Interrupted ao... |
ORPHA:1727 |
| Emanuel Syndrome |
|
Scoliosis, Congenital hip dislocation, Pulmonic stenosis, Atrial septal defect, Ventricular septa... |
OMIM:609029 |
| Acropectorovertebral Dysplasia |
|
Short thumb, Radial deviation of the 2nd finger, Capitate-hamate fusion, Finger syndactyly, Synos... |
OMIM:102510 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Butterfly vertebrae, Ulnar deviation of finger, Short neck, Left ventricular hyper... |
OMIM:611209 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Scoliosis, Dextrocardia, Hand polydactyly, Atrial septal defect, Abnormal aortic valve morphology... |
ORPHA:261197 |
| Stankiewicz-Isidor Syndrome |
|
Short thumb, Ventricular septal defect, Sacral dimple, 2-3 toe syndactyly, Patent ductus arterios... |
OMIM:617516 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Pulmonic stenosis, Tetral... |
ORPHA:3426 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Scoliosis, Lumbar hyperlordosis, Narrow greater sciatic notch, Irregular vertebral endplates, Fla... |
OMIM:609616 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Transposition of the great arteries, Patent foramen ovale, Short neck |
OMIM:616789 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal pulmonary valve morphology, Scoliosis, Short distal phalanx of finger, Camptodactyly of ... |
ORPHA:1507 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Coarctation of aorta, Abnormal vertebral morphology, Ethmoidal encephalo... |
ORPHA:280195 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Scoliosis, Ventricular septal defect, Sacral dimple, Dextrotransposition of the great arteries, B... |
OMIM:619995 |
| White Forelock With Malformations |
|
Atrial septal defect, Finger syndactyly, Abnormal rib morphology, Spina bifida occulta, Sprengel ... |
ORPHA:2475 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Death in childhood, Acrocyanosis, Tapered finger |
OMIM:302000 |
| Isolated Hemihyperplasia |
|
Asymmetry of the thorax, Scoliosis, Myelomeningocele |
ORPHA:2128 |
| Meacham Syndrome |
|
Death in childhood, Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Right aortic arch... |
OMIM:608978 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... |
OMIM:614779 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Short neck, Communicating hydrocephalus, Hemivert... |
ORPHA:1780 |
| Femoral-Facial Syndrome |
|
Scoliosis, Ventricular septal defect, Preaxial foot polydactyly, Toe syndactyly, Sprengel anomaly... |
OMIM:134780 |
| Ververi-Brady Syndrome |
|
Scoliosis, Metaphyseal irregularity, Clinodactyly of the 5th finger, Transposition of the great a... |
OMIM:617982 |
| Truncus Arteriosus |
|
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... |
ORPHA:3384 |
| Aicardi Syndrome |
|
Scoliosis, Butterfly vertebrae, Hip dysplasia, Missing ribs, Supernumerary ribs, Small hand, Rib ... |
ORPHA:50 |
| Axial Spondylometaphyseal Dysplasia |
|
Scoliosis, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proxi... |
ORPHA:168549 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology, Tetralogy of Fallot |
ORPHA:276422 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Ventricular se... |
OMIM:208530 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Irregular vertebral endplates, Met... |
OMIM:187760 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... |
ORPHA:99050 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Pectus excavatum, Scoliosis, Camptodactyly of finger, Aortic aneurysm, Umbilical hernia, Finger s... |
ORPHA:2990 |
| Cardiac Diverticulum |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology, ... |
ORPHA:1686 |
| Noonan Syndrome 12 |
|
Pectus excavatum, Ventricular septal defect, Tetralogy of Fallot, Proximal placement of thumb, Sp... |
OMIM:618624 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Scoliosis, Pulmonic stenosis, Atrial septal defect, Hydrocephalus, Holoprosencepha... |
OMIM:253800 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Aplasia of the middle phalanx ... |
OMIM:615297 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Osteolysis involving bones... |
ORPHA:371428 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Ventricular septal defect, Short neck, Fused cervical vertebrae, Sprengel anomaly, Cer... |
OMIM:214300 |
| Spondylometaphyseal Dysplasia, Axial |
|
Thoracic hypoplasia, Scoliosis, Anterior rib cupping, Platyspondyly, Short femoral neck, Narrow c... |
OMIM:602271 |
| Mucopolysaccharidosis, Type Iva |
|
Cervical myelopathy, Scoliosis, Cervical subluxation, Epiphyseal deformities of tubular bones, Po... |
OMIM:253000 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Hypoplas... |
OMIM:600001 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Coarctation of aorta, Hallux valgus, Atrial septal defect, Tetralogy of ... |
ORPHA:2008 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, Double outlet rig... |
ORPHA:3304 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Thin ... |
OMIM:271520 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Atrial situs ambiguous, Clubbing, Hydrocephalus, Abnormal heart morpholog... |
ORPHA:244 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Scoliosis, Hydrocephalus, Hemivertebrae, Abnormal rib morphology, Brachydactyly, Sprengel anomaly... |
ORPHA:2180 |
| Desbuquois Syndrome |
|
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Ventricular septal defect, Sh... |
ORPHA:1425 |
| Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Oligodactyly, Postaxial foot polydactyly, Hip dislocation, Y-... |
OMIM:146510 |
| Neuralgic Amyotrophy |
|
Sprengel anomaly, Acrocyanosis, Scapular winging |
ORPHA:2901 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Scoliosis, Hip dysplasia, Tetralogy of Fallot, Aortic arch aneurysm, Abn... |
ORPHA:1606 |
| Rare Circulatory System Disease |
|
Vascular calcification, Abnormal metatarsal morphology, Thoracic kyphosis, Abnormal systemic arte... |
ORPHA:98028 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Dextrocardia, Meningocele, Missing ribs, Abnormal tricuspid valve morpho... |
ORPHA:1759 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Scoliosis, Ventricular septal defect, Proximal placement of thumb, Missi... |
ORPHA:1488 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Thoracic hypoplasia, Pectus excavatum, Lumbar hyperlordosis, Ovoid vertebral b... |
OMIM:608728 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Vertebral fusion, Ventricular septal defect, Missing ribs, Hemivertebrae, Su... |
OMIM:206900 |
| Jeune Syndrome |
|
Postaxial foot polydactyly, Abnormal metaphysis morphology, Abnormal rib morphology, Toe syndacty... |
ORPHA:474 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Camptodactyly of finger, Scoliosis, Hip dysplasia, Tetralogy of Fal... |
OMIM:607872 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Clinodactyly, Scoliosis, Club-shaped proximal femur, Anterior rib cupping, Platyspondyly, Brachyd... |
OMIM:184250 |
| Schneckenbecken Dysplasia |
|
Thoracic hypoplasia, Lateral clavicle hook, Ovoid vertebral bodies, Short neck, Short ribs, Umbil... |
OMIM:269250 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short finger, Scoliosis, Ovoid vertebral bodies, Metaphyseal cupping, Metaphyseal widening, Hypop... |
OMIM:608940 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Enlargement of the costochondral junction, Lumbar hyperlordosis, Short metatarsal, Capitate-hamat... |
OMIM:271650 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Ulnar deviation of finger, Atrial septal... |
ORPHA:261330 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibula morphology, Ulnar devi... |
ORPHA:1836 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal metaphysis morphology, Short metatarsal, Short metacarpal, Synostosis of carpal bones, A... |
ORPHA:93351 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Down-sloping shoulders, Camptodactyly of toe, Scoliosis, Hip dislocation, Patellar aplasia, Ulnar... |
OMIM:265000 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Abnormality of the odontoid process, Ventricular septal defect, Short neck, Pec... |
OMIM:609654 |
| Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Pla... |
OMIM:614524 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... |
OMIM:619702 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends, Short palm, Coxa vara |
ORPHA:168555 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Scoliosis, Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short distal phalanx of finger, Scoliosis, Aplasia/Hypoplasia involving the metacarpal bones, Bro... |
OMIM:268310 |
| Prune Belly Syndrome |
|
Pectus excavatum, Scoliosis, Congenital hip dislocation, Atrial septal defect, Ventricular septal... |
ORPHA:2970 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Death in infancy, Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Pulmonic stenosis, Stillbirth, Aortic valve stenosis, Hypertrophic cardio... |
OMIM:615415 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thoracic aortic... |
OMIM:619657 |
| Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Rib fusion, Scoliosis |
OMIM:614688 |
| Mucopolysaccharidosis, Type X |
|
Scoliosis, Spatulate ribs, Hip dysplasia, Left ventricular hypertrophy, Broad ribs, Broad clavicl... |
OMIM:619698 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Long clavicles, Fifth finger distal phalanx clinodactyly, Aplasia/Hypopl... |
ORPHA:2839 |
| Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Hip dislocation, Hip dysplasia, Ulnar deviation of finger, Hypoplastic ilia, Abnormal ... |
ORPHA:93359 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Scoliosis, Pectus excavatum, Short lower limbs, Kyphosis, Platyspondyly, Pectus cari... |
OMIM:259440 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Mucopolysaccharidosis, Type Ivb |
|
Cervical myelopathy, Scoliosis, Hip dysplasia, Pointed proximal second through fifth metacarpals,... |
OMIM:253010 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Coarctation of aorta, Short distal phalanx of finger, Pulmon... |
ORPHA:97360 |
| Mucolipidosis Iii Gamma |
|
Scoliosis, Short neck, Kyphosis, Abnormal rib cage morphology, Pectus carinatum, Aortic valve ste... |
OMIM:252605 |
| Diastrophic Dysplasia |
|
Short finger, Camptodactyly of finger, Scoliosis, Ulnar deviation of finger, Hip dysplasia, Abnor... |
ORPHA:628 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Proximal placement of thumb, Ventricular septal defect, Dextrotrans... |
OMIM:618619 |
| Mucopolysaccharidosis Type 4 |
|
Scoliosis, Abnormal metaphysis morphology, Short neck, Coxa valga, Abnormal heart valve morpholog... |
ORPHA:582 |
| Microphthalmia, Syndromic 9 |
|
Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Right ao... |
OMIM:601186 |
| Nevus Comedonicus Syndrome |
|
Scoliosis, Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Spina bifida oc... |
ORPHA:64754 |
| Thanatophoric Dysplasia, Type Ii |
|
Hypoplastic ilia, Short greater sciatic notch, Short ribs, Neonatal death, Platyspondyly, Narrow ... |
OMIM:187601 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Thoracic scolio... |
OMIM:142900 |
| Aortic Arch Interruption |
|
Left ventricular hypertrophy, Ventricular septal defect, Abnormal ascending aorta morphology, Aor... |
ORPHA:2299 |
| Fibrochondrogenesis 1 |
|
Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Broad long bones, Patent foramen ovale... |
OMIM:228520 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormal metaphysis morphology, Coxa ... |
ORPHA:2484 |
| Cog1-Cdg |
|
Rib fusion, Butterfly vertebrae, Short neck, Flat acetabular roof, Coxa valga, Atrial septal dila... |
ORPHA:263508 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Scoliosis, Narrow greater sciatic notch, Dumbbell-shaped femur, Short neck, Irregular, rachitic-l... |
OMIM:184252 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Thin ribs, Wafer-thin platyspondyly, Metaphyseal irregularity, Radial bowing... |
OMIM:151210 |
| Thanatophoric Dysplasia, Type I |
|
Thoracic hypoplasia, Hypoplastic ilia, Short greater sciatic notch, Short neck, Hydrocephalus, Sh... |
OMIM:187600 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Vent... |
ORPHA:2255 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Scoliosis, Sacral dimple, Ventricular septal defect |
OMIM:608227 |
| Pentalogy Of Cantrell |
|
Encephalocele, Scoliosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, H... |
ORPHA:1335 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Atr... |
OMIM:265380 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Hydranencephaly, Ventricular septal defect, Myelomeningocele, Meningocele, Death in... |
ORPHA:1393 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... |
OMIM:615779 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal cardiac septum morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Pectus excavatum, Camptodactyly, Hip dysplasia, Prominent coccyx, ... |
OMIM:249420 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Sacral dimple, Tapered finger, Rib fusion, Dilation of Virchow-Robin spaces, Vascula... |
ORPHA:544488 |
| Partial Atrioventricular Septal Defect |
|
Coarctation of aorta, Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Anomal... |
ORPHA:1330 |
| Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Camptodactyly, Yellow subcutaneous tissue covered by thin, scaly skin, Vent... |
OMIM:256520 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Thoracic dysplasia, Thoracic hypoplasia, Lateral clavicle hook, Ventricular septal defect, Hydroc... |
OMIM:615630 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Short neck, Abnormal hip bone morphology, Kyphosis, Abnormal rib morphology, Ab... |
ORPHA:2522 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
| Wolf-Hirschhorn Syndrome |
|
Scoliosis, Abnormal thorax morphology, Short thumb, Atrial septal defect, Abnormality of the vert... |
ORPHA:280 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Ventricu... |
OMIM:113000 |
| Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Short neck, Syndactyly, Cutaneous syndactyly, Radial deviati... |
OMIM:148050 |
| Chime Syndrome |
|
Erythema, Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresi... |
ORPHA:3474 |
| 3M Syndrome |
|
Abnormal cerebral vascular morphology, Horizontal ribs, Scoliosis, Enlarged thorax, Hypoplastic p... |
ORPHA:2616 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Bell-shaped th... |
OMIM:615633 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Spina bifida, Ventricular septal defect, Anencephaly, Aplasia/Hypoplasia ... |
ORPHA:2476 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Varicose veins |
ORPHA:97330 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Hip dislocation, Irregular vertebral endplates, Short neck, Delayed ossification of ca... |
OMIM:618395 |
| Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... |
OMIM:223800 |
| 8Q24.3 Microdeletion Syndrome |
|
Hip dysplasia, Ventricular septal defect, Hypoplastic aortic arch, Atrioventricular canal defect,... |
ORPHA:508488 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Thin ribs, Platyspondyly, Metaph... |
OMIM:300863 |
| 3C Syndrome |
|
Scoliosis, Hand polydactyly, Hypoplastic left heart, Pulmonic stenosis, Short neck, Ventricular s... |
ORPHA:7 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Atrial septal defect, Phocome... |
ORPHA:2538 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Ventricular septal defect, Atrial septal defect, Abnormality of t... |
ORPHA:79345 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal pulmonary valve morphology, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, A... |
ORPHA:567 |
| Dyggve-Melchior-Clausen Disease |
|
Horizontal inferior border of scapula, Atlantoaxial instability, Iliac crest serration, Abnormal ... |
ORPHA:239 |
| Achondrogenesis Type 1B |
|
Short neck, Umbilical hernia, Abnormal rib morphology, Narrow chest, Short thorax, Short foot |
ORPHA:93298 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal inferior vena cava morphology, Coarctation of aorta... |
ORPHA:980 |
| Gm1-Gangliosidosis, Type I |
|
Scoliosis, Short neck, Hypoplastic vertebral bodies, Angiokeratoma corporis diffusum, Abnormal he... |
OMIM:230500 |
| Cardiospondylocarpofacial Syndrome |
|
Dysplastic tricuspid valve, Herniation of intervertebral nuclei, Scoliosis, Ventricular septal de... |
OMIM:157800 |
| Pseudoachondroplasia |
|
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Irregular epiphyses, ... |
OMIM:177170 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Pectus excavatum, Scoliosis, Butterfly vertebrae, Finger joint hypermobility, Ventricular septal ... |
OMIM:618870 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Scoliosis, Hip dislocation, Absent radius, Aplasia/hypoplasia of the humerus, Tetralogy of Fallot... |
ORPHA:3320 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Scoliosis, Pulmonic stenosis, Atrial septal defect, Short neck, Kyphosis, Contracture of the prox... |
OMIM:618223 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Abnormal metaphysis morphology, Ovoid vertebral bodies, Short nec... |
ORPHA:1517 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck |
ORPHA:2578 |
| Juberg-Hayward Syndrome |
|
Scoliosis, Short thumb, Abnormal finger morphology, Abnormal metacarpal morphology, Abnormal rib ... |
ORPHA:2319 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Asymmetry of spinal facet joints, Sacral dimple, Anencephaly, Ab... |
OMIM:182940 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Hemivertebrae, Patent ductus arterio... |
ORPHA:77298 |
| Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Coarctation of aorta, Hypoplastic left heart, Tetralo... |
ORPHA:3097 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Scoliosis, Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus, Hypertrop... |
OMIM:616276 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Clinodactyly of the 5th finger, Ventricular septal defect |
ORPHA:1918 |
| Mosaic Trisomy 14 |
|
Abnormal rib morphology, Camptodactyly of finger, Narrow chest, Short neck |
ORPHA:1703 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal chondrodysplasia, Hydrocephalus, Thin ribs, Death in infancy, Platyspondyly, Short pa... |
ORPHA:163966 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Pectus excavatum, Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Spina b... |
ORPHA:1327 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Ventricular septal defect, Atrial septal defect, Peripheral pulmo... |
ORPHA:52 |
| Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect, Postaxial polydactyly, Trident pelvis, Occipital enceph... |
OMIM:614815 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition of the great ... |
OMIM:313850 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormal hip bone morphology, Abnormal aortic mor... |
ORPHA:1166 |
| Poland Syndrome |
|
Scoliosis, Abnormality of the humerus, Absent hand, Atrial septal defect, Asymmetry of the thorax... |
ORPHA:2911 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Atrial... |
OMIM:270100 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Abnormal heart morphology, Over... |
ORPHA:477817 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Mesocardia, Dextrocardia, Atrioventricular canal defect, Bilateral superi... |
OMIM:605376 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Six lumbar vertebrae, Ven... |
OMIM:312870 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Fountain Syndrome |
|
Pectus excavatum, Scoliosis, Erythema, Short distal phalanx of finger, Spina bifida, Kyphosis, Ab... |
ORPHA:3219 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Aplasia/Hypoplasia of fingers, Kyphosis, Abnormal epiphysis morphology, Abnormal rib ... |
ORPHA:3082 |
| Feingold Syndrome 2 |
|
Short thumb, Ventricular septal defect, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:614326 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Butterfly vertebrae, Postaxial foot polydactyly, Pulmonic stenosis, Ven... |
OMIM:301056 |
| Cardiofaciocutaneous Syndrome 3 |
|
Pectus excavatum, Scoliosis, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, ... |
OMIM:615279 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Short distal phalanx of finger, Scoliosis, Atrial septal defect, Mesoaxial foot polydactyly, Peri... |
OMIM:612474 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Coat hanger sign of ribs, Ventricular septal defect, Umbilical hernia, Abnor... |
ORPHA:254534 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Coarctation of aorta, Ventricular s... |
ORPHA:99125 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Flattened epiphysis, Pear-shaped vertebrae, Irregular sclerotic ... |
OMIM:602111 |
| Feingold Syndrome Type 2 |
|
Short thumb, Ventricular septal defect, Short middle phalanx of finger, Toe syndactyly, Brachydac... |
ORPHA:391646 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Death in childhood, Ventricular septal defect |
OMIM:253300 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Pulmonary artery atresia, Left superior vena cava draining directly to the le... |
OMIM:613759 |
| Restrictive Dermopathy |
|
Short umbilical cord, Camptodactyly of finger, Dextrocardia, Atrial septal defect, Thin ribs, Tho... |
ORPHA:1662 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Hand polydactyly, Abnormal 3rd finger morphology, Pulmonic stenosis, Atrial septal defect, Ventri... |
OMIM:249670 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... |
OMIM:109730 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Scoliosis, Metaphyseal cupping, Metaphyseal irregularity, Brachydactyly, Coxa vara, Metaphyseal w... |
OMIM:250420 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Hemivertebrae, Short neck |
ORPHA:2234 |
| Wolf-Hirschhorn Syndrome |
|
Scoliosis, Hip dislocation, Hip dysplasia, Short thumb, Ventricular septal defect, Atrial septal ... |
OMIM:194190 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Ventricular septal... |
OMIM:617895 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Encephalocele, Pulmonary artery atresia, Spinal dysraphism, Tetralogy of ... |
ORPHA:1908 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Hydrocephalus, Postaxial polydactyly, Kyphosis, ... |
OMIM:603387 |
| Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Flared iliac wing, Radial b... |
OMIM:607778 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Pectus excavatum, Camptodactyly, Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia... |
OMIM:280000 |
| Lethal Kniest-Like Dysplasia |
|
Hypoplastic ilia, Short neck, Coronal cleft vertebrae, Short ribs, Hypoplastic vertebral bodies, ... |
ORPHA:2347 |
| Mucopolysaccharidosis, Type Iiia |
|
Asymmetric septal hypertrophy, Scoliosis, Umbilical hernia, Thickened ribs, Ovoid thoracolumbar v... |
OMIM:252900 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short ribs, Broad ribs, Abnormal rib morphology,... |
ORPHA:2519 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Atrial situs ambiguous, Hypoplastic left heart, Congenita... |
OMIM:617205 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Scoliosis, Anterior encephalocele, Ventricular septal defect, Holoprosencephal... |
OMIM:601357 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormality of fibula morphology, Aqueductal stenosis, Lower limb undergrowth, Abnormal rib morph... |
ORPHA:3035 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Pectus excavatum, Short distal phalanx of finger, Spina bifida, Finger s... |
ORPHA:957 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Scoliosis, Hip dysplasia, Clinodactyly of the 2nd finger, Ventricular septal defect, Short neck, ... |
OMIM:620073 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum, Coarctation of aorta, Right aortic arch |
OMIM:140850 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
| Achondrogenesis Type 1A |
|
Short neck, Umbilical hernia, Narrow chest, Short palm, Short thorax, Multiple rib fractures, Sho... |
ORPHA:93299 |
| Cole-Carpenter Syndrome |
|
Scoliosis, Abnormal metaphysis morphology, Communicating hydrocephalus, Bowing of the long bones,... |
ORPHA:2050 |
| Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Scoliosis, Thoracic kyphoscoliosis |
ORPHA:98913 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormal hip bone morphology, Slender long bone, Abnormal rib morphology, Abnormal fo... |
ORPHA:1486 |
| Vacterl Association With Hydrocephalus |
|
Radial club hand, Hydrocephalus, Abnormality of the vertebral column, Aqueductal stenosis, Abnorm... |
OMIM:276950 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Scoliosis, Short neck, Abnormality of limb bone morphology, Abnormal rib morphology, Abnormal ver... |
OMIM:118100 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal chondrodysplasia, Scoliosis, Abnormal diaphysis morphology, Cardiomyopathy, Biconvex ... |
ORPHA:175 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Metaphyseal cupping of metacarpals, Peg-like central prominence of distal tibial metaphyses, Shor... |
OMIM:300232 |
| Holoprosencephaly 13, X-Linked |
|
Thoracic hemivertebrae, Butterfly vertebrae, Hypoplastic left heart, Ventricular septal defect, S... |
OMIM:301043 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Scoliosis, Short thumb, Carpal synostosis, Flared iliac wing, Fibular ap... |
ORPHA:90652 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Thickened ribs, Death in adolescence |
OMIM:122860 |
| Zttk Syndrome |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Kyphosis, Hemivertebrae, Patent ductu... |
OMIM:617140 |
| Trisomy 13 |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Ectrodactyly, Kyphosis, Abnormal rib ... |
ORPHA:3378 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal rib morphology, Abnormal pelvic girdle bone morphology... |
ORPHA:2097 |
| Carpenter Syndrome 2 |
|
Situs inversus totalis, Atrial septal defect, Broad thumb, Cutaneous finger syndactyly, Brachydac... |
OMIM:614976 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Tarp Syndrome |
|
Clinodactyly, Pectus excavatum, Scoliosis, Hand polydactyly, Tetralogy of Fallot, Atrial septal d... |
ORPHA:2886 |
| Contractural Arachnodactyly, Congenital |
|
Camptodactyly, Scoliosis, Ulnar deviation of finger, Aortic root aneurysm, Ventricular septal def... |
OMIM:121050 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Down Syndrome |
|
Clinodactyly, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricul... |
OMIM:190685 |
| Baller-Gerold Syndrome |
|
Oligodactyly, Scoliosis, Aplasia of metacarpal bones, Abnormal heart morphology, Aphalangy of the... |
OMIM:218600 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Cervical ribs, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Missing ribs, Hemivertebrae, Abnormal rib morphology, Arac... |
ORPHA:2759 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Abnormal thorax morph... |
ORPHA:2184 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Short neck, Broad ribs, Overriding aorta, Short long bone, Narrow ches... |
OMIM:617022 |
| Hemihyperplasia, Isolated |
|
Scoliosis, Myelomeningocele |
OMIM:235000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Pectus excavatum, Scoliosis, Camptodactyly, Aortic root aneurysm, Atrial septal defect, Ventricul... |
OMIM:301039 |
| Achondrogenesis, Type Ia |
|
Beaded ribs, Short thorax, Short neck, Short ribs, Flaring of rib cage, Hypoplasia of the radius,... |
OMIM:200600 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Scoliosis, Ventricular septal defect |
ORPHA:357225 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs |
OMIM:604919 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Short neck, Abnormal diaphysis morpholog... |
ORPHA:2021 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Postaxial foot polydactyly, Dextrocardia, Coarctation of aorta, Ventricular septal... |
OMIM:264480 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral ... |
OMIM:184253 |
| Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Short toe, Patent foramen ovale, Bowing of the legs, Brachydactyly, Ho... |
OMIM:269860 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Thoracic hypoplasia, Beaded ribs, Fractured radius, Decreased fibular diameter, Short neck, Ventr... |
OMIM:616897 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Cyanosis |
OMIM:207950 |
| Limb Body Wall Complex |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Cutaneous finger synd... |
ORPHA:2369 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae |
OMIM:602196 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal metaphysis morphology, Ovoid vertebral bodies, Short neck, Broad ribs, Abnormal heart va... |
ORPHA:583 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Short ribs, Broad long bones, Hypoplastic iliac wing, Stillbirth, Short tubular ... |
OMIM:200610 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip dislocation, Ventricular septal defect, Atrial septal defect, Advanced ossification of carpal... |
OMIM:271640 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Horizontal inferior border of scapula, Atrial septal defect, Metaphyseal cupping, Sh... |
OMIM:250220 |
| Kagami-Ogata Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Long clavicles, Thin ribs, Co... |
OMIM:608149 |
| Caudal Duplication |
|
Abnormal sacrum morphology, Myelomeningocele, Spina bifida, Vertebral segmentation defect, Bifid ... |
ORPHA:1756 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Short neck, Postaxial polydactyly, Occipital encephalocele, Holoprose... |
OMIM:619879 |
| Vacterl/Vater Association |
|
Abnormal sacrum morphology, Occipital encephalocele, Finger syndactyly, Anencephaly, Abnormal rib... |
ORPHA:887 |
| Lateral Meningocele Syndrome |
|
Pectus excavatum, Scoliosis, Vertebral fusion, Short neck, Ventricular septal defect, Aortic aneu... |
OMIM:130720 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Abnormal cerebral vein morphology, Occipital encephalocele, Short clavicles, Br... |
ORPHA:60015 |
| Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Shor... |
OMIM:615355 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, 2-3 finger syndactyly, 3-4 finger syndactyly, Myelomeningocele, Thoracolumbar scoli... |
ORPHA:2437 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect |
OMIM:614886 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hip dysplasia, Anterior wedging of L1, Cardiomyopathy, Flared iliac wing, Me... |
OMIM:253200 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Pectus excavatum, Scoliosis, Atrial septal defect, Ventricular septal defect, Umbilical hernia, S... |
ORPHA:329224 |
| Hurler Syndrome |
|
Camptodactyly of finger, Scoliosis, Narrow pelvis bone, Short neck, Hydrocephalus, Abnormal diaph... |
ORPHA:93473 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic v... |
OMIM:616652 |
| Cleidocranial Dysplasia |
|
Down-sloping shoulders, Abnormal sacrum morphology, Scoliosis, Hypoplastic inferior ilia, Hypopla... |
ORPHA:1452 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Butterfly vertebrae, Short lower limbs, Short neck, Coronal cleft vertebrae... |
OMIM:620076 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Pectus excavatum, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
| Lateral Meningocele Syndrome |
|
Pectus excavatum, Scoliosis, Short neck, Ventricular septal defect, Umbilical hernia, Meningocele... |
ORPHA:2789 |
| Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Absent distal... |
OMIM:215140 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Death in childhood, Ventricular septal defect, Short neck, Umbilical hernia, Hydrocephalus, Paten... |
OMIM:612938 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
| Osteogenesis Imperfecta, Type Ii |
|
Thoracic hypoplasia, Beaded ribs, Thin ribs, Broad long bones, Crumpled long bones, Platyspondyly... |
OMIM:166210 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pectus excavatum, Hip dysplasia, Ventricular septal defect, Tetralogy of Fallot, Atrial septal de... |
OMIM:612582 |
| Triploidy |
|
Hydrocephalus, Meningocele, Short neck, Finger syndactyly, Holoprosencephaly, Narrow chest, Abnor... |
ORPHA:3376 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Camptodactyly, Spina bifida |
OMIM:211960 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Postaxial foot polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Atrial se... |
OMIM:225500 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Scoliosis, Central vertebral hypoplasia, Short neck, Metaphyseal widening, G... |
ORPHA:93352 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Scoliosis, Ventricular septal defect |
ORPHA:398156 |
| Tetrasomy 5P |
|
Pectus excavatum, Hydrocephalus, Short neck, Overlapping toe, Long fingers, Short hallux, Cyanosi... |
ORPHA:3309 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Hip dislocation, Ventricular septal defect, Atrial septal defect, Atrioventricular ... |
ORPHA:672 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Thoracic dysplasia, Lateral clavicle hook, Ventricular septal defect, Preaxial polydactyly, Short... |
OMIM:615503 |
| King-Denborough Syndrome |
|
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Short neck, Ventricular septal defect, Kyphos... |
OMIM:619542 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Postaxial hand polydactyly, Hydrocephalus, Ventricular septal... |
ORPHA:83473 |
| Axial Mesodermal Dysplasia Spectrum |
|
Scoliosis, Short neck, Hydrocephalus, Missing ribs, Abnormal rib morphology, Abnormal pelvic gird... |
ORPHA:1834 |
| Acro-Renal-Mandibular Syndrome |
|
Scoliosis, Butterfly vertebrae, Hip dislocation, Short neck, Thin ribs, Hypoplastic scapulae, Kyp... |
ORPHA:958 |
| Acromesomelic Dysplasia 4 |
|
Prominent deltoid tuberosities, Short metatarsal, Broad finger, Short toe, Metaphyseal irregulari... |
OMIM:619636 |
| Campomelia, Cumming Type |
|
Abnormal thorax morphology, Bowing of the long bones, Death in infancy, Abnormal rib morphology, ... |
ORPHA:1318 |
| Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defec... |
OMIM:274000 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Camptodactyly, Scoliosis, Vertebral fusion, Short neck, Ventricular septal defect, Spondylolisthe... |
OMIM:178110 |
| Isolated Right Ventricular Hypoplasia |
|
Clubbing, Atrial septal defect, Hypoxemia, Right atrial enlargement, Muscular ventricular septal ... |
ORPHA:439 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Ventricular septal defect, Aortic aneurysm, Tetralogy of Fallot, Subvalvular aortic stenosis, Bic... |
OMIM:614980 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Toe clinodactyly, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Scoliosis, Dextrocardia, Hip dislocation, Ventricular septal defect, Sho... |
ORPHA:99776 |
| Trisomy 1Q |
|
Camptodactyly of finger, Hydrocephalus, Ventricular septal defect, Abnormal rib morphology, Toe s... |
ORPHA:261344 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Meningocele, Ventricular septal defect, Hydrocephalus, Anenc... |
OMIM:611134 |
| Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Bifid sternum, Cervical spina bifida, Myelomeningocele, Anencephaly |
ORPHA:63260 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Irregular vertebral endplates, Short dig... |
OMIM:616651 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... |
OMIM:618719 |
| Mmep Syndrome |
|
Split foot, Triphalangeal thumb, Ventricular septal defect |
ORPHA:3434 |
| Fibular Hemimelia |
|
Oligodactyly, Short tibia, Abnormal heart morphology, Toe syndactyly, Short toe, Fibular aplasia,... |
ORPHA:93323 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Clinodactyly of the 5th finger, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Metaphyseal chondrodysplasia, Short metacarpal, Abnormal scapula morphology, Platysp... |
ORPHA:93317 |
| Osteogenesis Imperfecta, Type Xvi |
|
Beaded ribs, Bruising susceptibility, Vertebral compression fracture, Platyspondyly, Short long b... |
OMIM:616229 |
| Three M Syndrome 2 |
|
Lumbar hyperlordosis, Short neck, Thin ribs, Slender long bone, Scapular winging, Prominent calca... |
OMIM:612921 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... |
ORPHA:2326 |
| Lambert Syndrome |
|
Branchial anomaly, Jaundice, Ventricular septal defect |
ORPHA:1296 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Supravalvar pulmonary ste... |
OMIM:618164 |
| Multiple Pterygium Syndrome, X-Linked |
|
Short finger, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Hypoplastic heart |
OMIM:312150 |
| Nail-Patella Syndrome |
|
Thickening of the lateral border of the scapula, Pectus excavatum, Scoliosis, Lumbar hyperlordosi... |
OMIM:161200 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormality of the vertebral column, Abnormal rib morphology, Sprengel anomaly |
OMIM:601076 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal cupping, Bowed humerus, Metaphyseal irregularity, Short 5th metacarpal, Radial bowing... |
OMIM:618019 |
| Pagod Syndrome |
|
Situs inversus totalis, Encephalocele, Hypoplastic left heart, Spina bifida, Meningocele, Death i... |
ORPHA:991 |
| Dextrocardia |
|
Situs inversus totalis, Dextrocardia, Congenital hip dislocation, Congenital malformation of the ... |
ORPHA:1666 |
| Mucopolysaccharidosis, Type Iiic |
|
Asymmetric septal hypertrophy, Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid... |
OMIM:252930 |
| Cenani-Lenz Syndrome |
|
Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Finger syndactyly, Syno... |
ORPHA:3258 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ascending aorta hypoplasia, Hypoplastic left heart, Ventricular septal defect, Hypoplastic aortic... |
OMIM:619503 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Atrial septal defect, Postaxial polydactyly, Ventricular septal defect, P... |
OMIM:615996 |
| 3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Scoliosis, 2-3 finger syndactyly, Pulmonic stenosis, ... |
ORPHA:435638 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Scoliosis, Short thumb, Tetralogy of Fallot, Ventricular septal de... |
OMIM:612562 |
| Codas Syndrome |
|
Scoliosis, Congenital hip dislocation, Ventricular septal defect, Coronal cleft vertebrae, Abnorm... |
ORPHA:1458 |
| Larsen Syndrome |
|
Spondylolysis, Pectus excavatum, Scoliosis, Vertebral fusion, Hip dislocation, Spatulate thumbs, ... |
OMIM:150250 |
| Maternal Phenylketonuria |
|
Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Abn... |
ORPHA:2209 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal spurs, Scoliosis, Hypoplastic ilia, Ivory epiphyses, Ovoid vertebral bodies, Femoral ... |
ORPHA:85167 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Scoliosis, Pulmonic stenosis, Myelomeningocele, Contracture of the proximal interphalangeal joint... |
OMIM:620141 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Sifrim-Hitz-Weiss Syndrome |
|
Coarctation of aorta, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Flat ... |
OMIM:617159 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Down-sloping shoulders, Scoliosis, Ventricular septal defect, Atrial septal defect, Short neck, O... |
OMIM:617452 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Short clavicles, Overtubulated long bones |
OMIM:619793 |
| Dysosteosclerosis |
|
Abnormal metaphyseal trabeculation, Irregular vertebral endplates, Short ribs, Hypoplastic verteb... |
OMIM:224300 |
| Campomelic Dysplasia |
|
Scoliosis, Shortening of all phalanges of the toes, Hip dislocation, Thin ribs, Abnormal heart mo... |
OMIM:114290 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Tetralogy of Fallot, Lobar holoprosencephaly, Syndactyly, Clinodactyly of the 5th finger, Hemiver... |
OMIM:614701 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Hydrocephalus, Ventricular septal defect, Syndactyly, Cutis marmorata |
OMIM:602501 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Short finger, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Hypoplastic heart |
OMIM:253290 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Abnormal cerebral vascular morphology, Scoliosis, Coarctation of aorta, Palmoplantar cuti... |
ORPHA:363705 |
| Osteogenesis Imperfecta, Type X |
|
Death in childhood, Thoracic hypoplasia, Scoliosis, Bowing of the long bones, Broad ribs, Thin ri... |
OMIM:613848 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Scoliosis, Erythema, Hypoplastic pelvis, Hand polydactyly, Ventricular s... |
ORPHA:2092 |
| Weill-Marchesani Syndrome 1 |
|
Broad metatarsal, Scoliosis, Lumbar hyperlordosis, Broad phalanges of the hand, Pulmonic stenosis... |
OMIM:277600 |
| Spondylo-Ocular Syndrome |
|
Thoracic kyphosis, Ventricular septal defect, Short neck, Platyspondyly, Abnormal intervertebral ... |
ORPHA:85194 |
| Pericardial And Diaphragmatic Defect |
|
Pectus excavatum, Tetralogy of Fallot, Atrial septal defect, Hypoxemia, Abnormal heart morphology... |
ORPHA:2847 |
| Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Thin ribs, Vertebral compression fracture, Femoral bowing, Biconcave vertebral ... |
OMIM:617952 |
| Hypophosphatasia |
|
Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology, Bowing of the long bones |
ORPHA:436 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pectus excavatum, Scoliosis, Camptodactyly, Lateral clavicle hook, Hydrocephalus, Aortic aneurysm... |
OMIM:182212 |
| Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... |
OMIM:305620 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Waardenburg Syndrome Type 1 |
|
Scoliosis, Spina bifida, Meningocele, Premature graying of hair, Sprengel anomaly |
ORPHA:894 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Short ribs, Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Kyphoscoli... |
ORPHA:1145 |
| Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Pulmonary artery atresia, Hypoplasia of right ventricle, Double inlet left ventr... |
OMIM:212093 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Hypoxemia, Patellar hypoplasia, Abnormal pulmonary a... |
ORPHA:2257 |
| Otopalatodigital Syndrome, Type Ii |
|
Spondylolysis, Short thumb, Atrial septal defect, Short metatarsal, Rocker bottom foot, Toe synda... |
OMIM:304120 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hypoxemia, Right atrial en... |
ORPHA:555874 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
| Acalvaria |
|
Postaxial hand polydactyly, Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Thin ribs, Kyphosis, Slender long bone, Protrusio acetabuli, Biconcave vertebral bodie... |
OMIM:259420 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal hip bone morphology, Abnormal rib morphology, Pectus carinatum, Hyperlordosis, Clinodact... |
ORPHA:3068 |
| Charge Syndrome |
|
Secundum atrial septal defect, Scoliosis, Right aortic arch, Tetralogy of Fallot, Ventricular sep... |
OMIM:214800 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Ventricular septal defect, Fl... |
OMIM:143095 |
| Galloway-Mowat Syndrome 7 |
|
Pectus excavatum, Hallux valgus, Ventricular septal defect, Partial duplication of thumb phalanx,... |
OMIM:618348 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Scoliosis, Ventricular septal defect, Umbilical hernia, Abnormal heart morphology, Bicuspid aorti... |
ORPHA:500159 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pectus excavatum, Scoliosis, Atrial septal defect, Ventricular septal defect, Kyphosis, Scapular ... |
OMIM:617061 |
| Grange Syndrome |
|
Ventricular septal defect, Syndactyly, Short palm, Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Jaundice, Metaphyseal dysplasia, Atrial septal defect |
ORPHA:1667 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Coarctation of aorta, Atrial septal defect, Bell-shaped thorax, Patent ductus ar... |
OMIM:614857 |
| Noonan Syndrome 4 |
|
Pectus excavatum, Scoliosis, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, ... |
OMIM:610733 |
| Ivic Syndrome |
|
Short 1st metacarpal, Scoliosis, Absent thumb, Short thumb, Tetralogy of Fallot, Preaxial polydac... |
OMIM:147750 |
| Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Left ventricular hypertrophy, Right ventricular hypertrophy, Clubbing of... |
ORPHA:335 |
| Noonan Syndrome 2 |
|
Pectus excavatum, Coarctation of aorta, Palmoplantar cutis laxa, Pulmonic stenosis, Ventricular s... |
OMIM:605275 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Short neck, Short ribs, Hydrocephalus, Preaxial polydactyly, Postaxial poly... |
OMIM:616546 |
| Asbestos Intoxication |
|
Hypoxemia, Clubbing of fingers, Cor pulmonale, Myocardial fibrosis, Cyanosis, Oxygen desaturation... |
ORPHA:2302 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Finger syndactyly, Split hand, Brachydactyly |
ORPHA:2145 |
| Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Ventricular septal defect, Short neck, Hydrocephalus, Death in infancy, Pat... |
OMIM:300514 |
| Viss Syndrome |
|
Scoliosis, Hip dislocation, Hip dysplasia, Left aortic arch with retroesophageal right subclavian... |
OMIM:619472 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Horizontal ribs, Lateral clavicle hook, Long thorax, Tetralogy of Fallot, Short neck, Short ribs,... |
OMIM:617925 |
| Hadziselimovic Syndrome |
|
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, V... |
OMIM:612946 |
| Renpenning Syndrome |
|
Pectus excavatum, Abnormal rib morphology, Sprengel anomaly, Abnormal thumb morphology, Clinodact... |
ORPHA:3242 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pectus excavatum, Scoliosis, Coarctation of aorta, Camptodactyly, Aortic root aneurysm, Atrial se... |
OMIM:617602 |
| Mucolipidosis Iii Alpha/Beta |
|
Scoliosis, Short ribs, Broad ribs, Short long bone, Shallow acetabular fossae, Carpal bone hypopl... |
OMIM:252600 |
| Recombinant 8 Syndrome |
|
Pectus excavatum, Scoliosis, Camptodactyly of finger, Patellar aplasia, Atrial septal defect, Tet... |
ORPHA:96167 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal common carotid artery morphology, Lumbar hyperlordosis, Atrial septal defect, Ischemic s... |
ORPHA:500150 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Abnormal thorax morphology, Hypoxemia |
ORPHA:70587 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Atrial septal defect, Ventricular sep... |
OMIM:263520 |
| Pelger-Huet Anomaly |
|
Polydactyly, Ventricular septal defect, Umbilical hernia, Short 4th metacarpal, Kyphosis, Short 3... |
OMIM:169400 |
| Cole-Carpenter Syndrome 2 |
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Pectus excavatum, Hydrocephalus, Thin ribs, Kyphosis, Platyspondyly, Narrow iliac wing |
OMIM:616294 |
| Mosaic Trisomy 16 |
|
Coarctation of aorta, Short thumb, Atrial septal defect, Ventricular septal defect, Syndactyly, S... |
ORPHA:1708 |
| Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Spinal rigidity, Pectus carinatum, Cyanosis, Neuropathic spinal arthr... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Spinal rigidity, Pectus carinatum, Cyanosis, Neuropathic spinal arthr... |
ORPHA:98914 |
| Opsismodysplasia |
|
Scoliosis, Short neck, Metaphyseal cupping, Flat acetabular roof, Hypoplastic vertebral bodies, S... |
OMIM:258480 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Scoliosis, Coarctation of aorta, Hip dysplasia, Atrial septal defect, Ventricular septal defect, ... |
OMIM:618494 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Horizontal ribs, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Flat ace... |
OMIM:616300 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Atrial septal defect, Abnormal finger morphology, Synostosis of carpal b... |
ORPHA:896 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Pectus excavatum, Scoliosis, Ventricular septal defect, Short neck, Patent ductus arteriosus |
ORPHA:52055 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Thoracic hypoplasia, Horizontal ribs, Scoliosis, Lateral clavicle hook, Absent... |
OMIM:613091 |
| Noonan Syndrome 10 |
|
Pectus excavatum, Scoliosis, Coarctation of aorta, Palmoplantar cutis laxa, Pulmonic stenosis, Ve... |
OMIM:616564 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Osteogenesis Imperfecta |
|
Scoliosis, Abnormal long bone morphology, Thin ribs, Diaphyseal thickening, Multiple rib fracture... |
ORPHA:666 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Posterior rib cupping, Cone-shaped... |
OMIM:300106 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:216694 |
| Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Cutaneous finge... |
OMIM:186500 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pectus excavatum, Scoliosis, Ventricular septal defect, Holoprosencephaly, 3-4 finger cutaneous s... |
OMIM:612530 |
| Kury-Isidor Syndrome |
|
Scoliosis, Hip dysplasia, Ventricular septal defect, Short neck, Proximal placement of thumb, Fin... |
OMIM:619762 |
| Duane-Radial Ray Syndrome |
|
Short humerus, Scoliosis, Absent radius, Short thumb, Atrial septal defect, Ventricular septal de... |
OMIM:607323 |
| Acrofacial Dysostosis 1, Nager Type |
|
Scoliosis, Hip dislocation, Ventricular septal defect, Tetralogy of Fallot, Urticaria, Toe syndac... |
OMIM:154400 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Short neck |
ORPHA:284417 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Hyperlordosis, Bicuspid aortic valve, Small hand, Short foot, Brachyda... |
OMIM:617450 |
| Hyperparathyroidism, Transient Neonatal |
|
Metaphyseal spurs, Stroke, Communicating hydrocephalus, Short ribs, Umbilical hernia, Thin ribs, ... |
OMIM:618188 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patellar hypoplasia, Patent foramen ovale, Paten... |
OMIM:619189 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Neonatal death, Ventricular septal defect |
OMIM:615524 |
| Mosaic Trisomy 20 |
|
Dysplastic tricuspid valve, Down-sloping shoulders, Clinodactyly, Scoliosis, Vertebral fusion, Ve... |
ORPHA:1724 |
| Fryns Microphthalmia Syndrome |
|
Abnormality of the vertebral column, Neural tube defect |
OMIM:600776 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Myelomeningocele, Spina bifida, Premature graying of hair, Supernumerary... |
OMIM:193500 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Camptodactyly, Pulmonic stenosis, Ventricular septal defect, Overlapping toe, Atrial septal defec... |
OMIM:614262 |
| Shwachman-Diamond Syndrome 1 |
|
Enlargement of the costochondral junction, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, O... |
OMIM:260400 |
| Fucosidosis |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Cardiomegaly, Vascular skin abnormality, Acrocyan... |
ORPHA:349 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Long clavicles, Short tibia, Abnormal... |
ORPHA:96334 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Camptodactyly, Atrial septal ... |
OMIM:300963 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Thoracic hypoplasia, Aplasia/Hypoplasia involving bones of the thorax, Early ossification of capi... |
ORPHA:397715 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... |
OMIM:618974 |
| Steinfeld Syndrome |
|
Phocomelia, Abnormality of the vertebral column, Missing ribs, Holoprosencephaly, Aplasia/Hypopla... |
OMIM:184705 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| Diamond-Blackfan Anemia 6 |
|
Short thumb, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventricular hy... |
OMIM:612561 |
| Digeorge Syndrome |
|
Scoliosis, Ventricular septal defect, Tetralogy of Fallot, Right aortic arch with mirror image br... |
OMIM:188400 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short distal phalanx of finger, Abnormal diaphysis morphology, Triangular shaped distal phalanges... |
ORPHA:73230 |
| Holoprosencephaly 14 |
|
Hydrocephalus, Ventricular septal defect, Aqueductal stenosis, Alobar holoprosencephaly, Holopros... |
OMIM:619895 |
| C Syndrome |
|
Postaxial foot polydactyly, Scoliosis, Hip dislocation, Ulnar deviation of finger, Ventricular se... |
OMIM:211750 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Tetralogy of Fallot, Ventricular septal defect, Overlapping toe, Abnormal vena cava morphology, P... |
ORPHA:163956 |
