| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Myelomeningocele, Hemivertebrae, Unilateral vertebral ... |
OMIM:613686 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Hypoplastic ... |
OMIM:618845 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of ... |
ORPHA:1354 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... |
ORPHA:1209 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
| 16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... |
ORPHA:261243 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Camptodac... |
ORPHA:2311 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Abnormal hip b... |
ORPHA:294975 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Clinodactyly of the 5th finger, Pectus excavatum, Prominent sternum, Spondylolisthesis... |
OMIM:617877 |
| Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectus carina... |
ORPHA:64755 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Clinodactyly of the 5th finger, Secundum atrial septal defect, Toe clinodactyly, Pectus excavatum... |
OMIM:619910 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Sco... |
ORPHA:1937 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
| Basal Cell Nevus Syndrome |
|
Bifid ribs, Sprengel anomaly, Short distal phalanx of the thumb, Abnormal sternum morphology, Kyp... |
OMIM:109400 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Hemivertebrae, Posterior ri... |
OMIM:608406 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
| Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... |
OMIM:612474 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... |
OMIM:220210 |
| Diabetic Embryopathy |
|
Vertebral segmentation defect, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Spi... |
ORPHA:1926 |
| Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Atrioventricular canal defect, Short humerus, Abnormality of the vertebral column,... |
OMIM:314390 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... |
ORPHA:392 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Rib fusion, Sprengel anomaly, Narrow chest, Vertebral segmentation defect, Hemiverteb... |
ORPHA:1394 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of the ulna, Truncus arteriosus |
OMIM:228940 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of... |
ORPHA:1913 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... |
ORPHA:1461 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Bicuspid aortic valve, Anomalous p... |
ORPHA:1120 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
| Thymic Aplasia With Fetal Death |
|
Stillbirth, Truncus arteriosus |
OMIM:274210 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Ventricular septal defect, Ge... |
OMIM:201000 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Cam... |
ORPHA:2635 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Short neck, Ventricular septal defect, Abnormal aortic morphology... |
ORPHA:2516 |
| Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Clinodactyly of the 5th finger, Atrial septal defect, Pectus excav... |
OMIM:179613 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... |
OMIM:618316 |
| Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Radial deviation of the 2... |
ORPHA:1388 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Atrioventricular can... |
ORPHA:251071 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defe... |
OMIM:306955 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bifid ribs, Rib fusion, Overlapping toe, Pectus excavatum, Atrial septal defect, Sprengel anomaly... |
OMIM:213980 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Pulmonary artery atresi... |
ORPHA:401935 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Phaver Syndrome |
|
Myelomeningocele, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Coarctation... |
ORPHA:2876 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Ventricular septal de... |
ORPHA:508498 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Thoracic hypoplasia, Abnormal h... |
ORPHA:1505 |
| Emanuel Syndrome |
|
Kyphoscoliosis, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Co... |
ORPHA:96170 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
| Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Block vertebrae, Scoliosis, Missing r... |
OMIM:304050 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
| Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
| Adams-Oliver Syndrome 6 |
|
Cutis marmorata, Brachydactyly, Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus... |
OMIM:616589 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Overlapping toe, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricu... |
OMIM:617478 |
| Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... |
ORPHA:1801 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... |
OMIM:616749 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Brachydactyly, Dextrotransposition of the great arteries, Scoliosis, Ventricular septal defect, S... |
OMIM:619995 |
| Emanuel Syndrome |
|
Kyphosis, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Congenital hip dislocat... |
OMIM:609029 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... |
ORPHA:93267 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1727 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Absent thumb, Short thumb, Ventricular septal defect, Sacral dimple, Patent d... |
OMIM:617516 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Vater/Vacterl Association |
|
Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Scoliosi... |
OMIM:192350 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Clinodactyly, Patent foramen ovale, Short neck |
OMIM:616789 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Atrial septal defect, Abnormal aortic valve morphology, Scoliosis, Abnormal vertebral... |
ORPHA:261197 |
| White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Abn... |
ORPHA:2475 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Cyanosis, Coarctation o... |
ORPHA:3426 |
| Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Short neck, Pectus carinatum, Ventricular septal defect, Sandal gap, Umbilical ... |
ORPHA:1507 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Coarctation of aorta, Abnormal vertebral morphology, Ethmoidal encephalo... |
ORPHA:280195 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Tapered finger, Short finger |
OMIM:302000 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Tetralogy of Fallot, Communicating hy... |
ORPHA:1780 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Situs inversus totalis, Hypertrophic ca... |
OMIM:615415 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal defect, Sprenge... |
OMIM:134780 |
| Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... |
ORPHA:168549 |
| Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... |
ORPHA:50 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Ververi-Brady Syndrome |
|
Metaphyseal irregularity, Clinodactyly of the 5th finger, Scoliosis, Transposition of the great a... |
OMIM:617982 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Prominent ste... |
OMIM:253010 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology, Tetralogy of Fallot |
ORPHA:276422 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology, Hydrocephalus |
OMIM:300864 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot |
OMIM:601348 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
| Noonan Syndrome 12 |
|
Spinal canal stenosis, Pectus excavatum, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septa... |
OMIM:618624 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Ventricular septal defe... |
OMIM:214300 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Camptod... |
ORPHA:2990 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
| Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... |
OMIM:602271 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Finger syndactyly, Split foot, Camptodactyly of finger, Co... |
ORPHA:2008 |
| Desbuquois Syndrome |
|
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Small hand, Cam... |
ORPHA:1425 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Pulmonic stenosis, Cyano... |
ORPHA:3304 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
| 1P36 Deletion Syndrome |
|
Bifid ribs, Abnormal cardiac septum morphology, Rib fusion, Clinodactyly of the 5th finger, Kypho... |
ORPHA:1606 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os... |
ORPHA:371428 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hydrocephalus, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the ve... |
ORPHA:2180 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Situs inversus t... |
ORPHA:244 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Spinal rigidity, Holoprosencephaly, Pul... |
OMIM:253800 |
| Neuralgic Amyotrophy |
|
Sprengel anomaly, Scapular winging, Acrocyanosis |
ORPHA:2901 |
| Rare Circulatory System Disease |
|
Abnormality of finger, Arterial calcification, Spinal rigidity, Abnormal metatarsal morphology, C... |
ORPHA:98028 |
| Pallister-Hall Syndrome |
|
Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Holoprosencephaly, Hemiverteb... |
OMIM:146510 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... |
ORPHA:66637 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Dextrocardia, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, 11 pairs of ribs, Ventricular septal defect, Aortic root aneurysm, Rib fusion, Cli... |
OMIM:607872 |
| Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, B... |
ORPHA:474 |
| Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Hemivertebrae, Ventricular septal defect, Patent ductus arterios... |
OMIM:206900 |
| Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Ventricular septal defect, Abno... |
ORPHA:1488 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sc... |
OMIM:608728 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Broad ... |
OMIM:271650 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
| Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... |
OMIM:269250 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Short neck, Pectus carinatum, Ventricular septal defect, Cervical ribs, Abnorma... |
OMIM:609654 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Atrial septal defect, Arachnodact... |
ORPHA:261330 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Platyspondyly, Synostosis of carpal bones, Upper limb undergrowth, Pectus carinatum, A... |
ORPHA:93351 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Jaundice, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rib fusion, Dislocated radial head, Kyphosis, Anterior clefting of vertebral bodies, Long clavicl... |
OMIM:265000 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Patent ductus arteriosus, Scoliosis |
OMIM:619717 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aorti... |
OMIM:619698 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... |
OMIM:268310 |
| Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Atrial septal defect, Congenital hip dislocation... |
ORPHA:2970 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Pectus excavatum, Atrial septal defect, Short phalanx of finger, Tapered finger, Long ... |
OMIM:613458 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Holt-Oram Syndrome |
|
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... |
OMIM:142900 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Absent proximal finger flexion creases, Aplasia/Hypoplasia of the fibula, Hypoplas... |
ORPHA:2839 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Sprengel anomaly, Kyphosis, Atrial septal defect, Pulmonic stenosi... |
OMIM:618223 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Hypoplastic ilia, Flared met... |
ORPHA:93359 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... |
ORPHA:64754 |
| Robinow Syndrome |
|
Tricuspid atresia, Pulmonary valve atresia, Rib fusion, Short distal phalanx of finger, Atrial se... |
ORPHA:97360 |
| Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Short umbilical cord, Short neck, Camptod... |
OMIM:256520 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... |
OMIM:151210 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Short neck, Platyspondyly, Scoliosis, Pectus carinatum, Hyperlor... |
ORPHA:582 |
| Diastrophic Dysplasia |
|
Kyphosis, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Camptodactyly of finger, ... |
ORPHA:628 |
| Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Platyspondyly, Abnormal femoral head morphology, Hypoplasia of th... |
ORPHA:239 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Pectus carinatum, Short lower limbs, Beaded... |
OMIM:259440 |
| Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Thoracic hypoplasia,... |
OMIM:228520 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, Abnormal pericardium morphology... |
ORPHA:1335 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Abnormal cardiac septum morphology, Cone-shaped epiphyses of the ... |
ORPHA:2484 |
| Cog1-Cdg |
|
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Coxa valga, Butterf... |
ORPHA:263508 |
| Mucolipidosis Iii Gamma |
|
Kyphosis, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wing, Abnormal rib ... |
OMIM:252605 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Left ventricular hypertrophy, Dextrotransp... |
OMIM:618619 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... |
OMIM:184252 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Hemivertebrae, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia of the di... |
OMIM:113000 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Sacral dimple, Atrial septal defect, Scoliosis |
OMIM:608227 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... |
ORPHA:2255 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... |
OMIM:265380 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Lateral clavicle hook, Short r... |
OMIM:615630 |
| Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... |
OMIM:187600 |
| Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Hyperphalangy of the 2nd finger, Ulnar deviatio... |
OMIM:616145 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal cardiac septum morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short nec... |
ORPHA:2522 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Kyphosis, Myelomeningocele, Clinodactyly of the 5th finger, Bell-shaped thorax... |
ORPHA:1393 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Vascular skin abnormality, Tapered finge... |
ORPHA:544488 |
| Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, Kyphosis, Kyphoscoliosis, Pectus excavatum, Atrial septal defect, ... |
OMIM:249420 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Rib fusion, Kyphosis, Atrial septal defect, Split hand, Arach... |
ORPHA:280 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Hydrocephalus, Atrial septal defect, Aortic valve ste... |
ORPHA:7 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Ventricular septal defect, Epiphyseal stippling of toe phalanges, Cervical ver... |
ORPHA:79345 |
| Kbg Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Cutaneous syndacty... |
OMIM:148050 |
| 3M Syndrome |
|
Kyphosis, Enlarged thorax, Clinodactyly of the 5th finger, Increased vertebral height, Thin ribs,... |
ORPHA:2616 |
| Cyanosis And Hepatic Disease |
|
Cyanosis, Clubbing |
OMIM:219400 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal cupping, Thin ribs, Platysp... |
OMIM:300863 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Cherry red s... |
OMIM:230500 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Varicose veins |
ORPHA:97330 |
| Chime Syndrome |
|
Pulmonary valve atresia, Aplasia/Hypoplasia of the phalanges of the toes, Erythema, Tetralogy of ... |
ORPHA:3474 |
| Baller-Gerold Syndrome |
|
Rib fusion, Carpal synostosis, Hydrocephalus, Hypoplasia of the radius, Carpal bone aplasia, Shor... |
OMIM:218600 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... |
OMIM:601186 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... |
OMIM:615633 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Atrial septal defect, Pectus excavatum, Butterfly vertebrae, Finger joint hyp... |
OMIM:618870 |
| Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Short foot, Umbilical hernia |
ORPHA:93298 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad hallux phalanx, Short neck... |
ORPHA:1517 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Ectrodactyly, Abnormality of finger, Atrial septal defect, Abnormality of the humeru... |
ORPHA:2538 |
| Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Thin ribs, Platy... |
OMIM:618395 |
| Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... |
ORPHA:2319 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:3320 |
| Mcdonough Syndrome |
|
Kyphoscoliosis, Pectus excavatum, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis,... |
OMIM:248950 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Thoracic scoliosis, Adducted thumb, Overlapping fingers, Short neck, Ventricular se... |
OMIM:617022 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Hemivertebrae, 11 pairs of ribs, Ventricular septal defect, Pat... |
ORPHA:77298 |
| 22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Hydrocephalus, Short neck, Ventricular septal defect, Umbilical hernia, Scolio... |
ORPHA:567 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Cyanosis, Abnormal coronary artery morp... |
ORPHA:980 |
| Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Carpal synostosis, Atrial septal defect, Muscular ventricular septal defect, Cone-sha... |
OMIM:157800 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Narrow chest, Short toe, Pectus excavatum, Camptodactyly of finge... |
ORPHA:1327 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Hydrocephalus, Thoracic scoliosis, Atrial septal defect, Postaxial polydactyly, Ventric... |
OMIM:603387 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:1918 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Abnormal rib morphology |
ORPHA:2772 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs, Intestinal lymphangiectasia |
OMIM:152800 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the c... |
ORPHA:163966 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Left ventricular hypertrophy, Sho... |
OMIM:611209 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Tetralogy of Fallot, Ventricular sep... |
ORPHA:1166 |
| Mosaic Trisomy 14 |
|
Abnormal rib morphology, Camptodactyly of finger, Narrow chest, Short neck |
ORPHA:1703 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Peripheral pulmonary artery stenos... |
ORPHA:52 |
| Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
| Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, E... |
ORPHA:2911 |
| Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septa... |
OMIM:614326 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Pectus excavatum, Cutis marmorat... |
ORPHA:3219 |
| Feingold Syndrome Type 2 |
|
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Toe syndac... |
ORPHA:391646 |
| Facial Dysmorphism With Multiple Malformations |
|
Hydrocephalus, Hemivertebrae, Tetralogy of Fallot, Ventricular septal defect, Transposition of th... |
OMIM:227255 |
| Cardiofaciocutaneous Syndrome 3 |
|
Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Short neck, Scoliosis, Ventricular sep... |
OMIM:615279 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Pectus excavatum, Short sternum, 2-3 finger syndactyly, Pectus carinatum, Ventricu... |
OMIM:312870 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Death in childhood, Atrial septal defect |
OMIM:253300 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... |
OMIM:617895 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... |
ORPHA:3082 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Death in... |
OMIM:613759 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coxa vara, Prominent sternum, Flared iliac wing, Thin ribs, Metaphyseal widening, Short neck, Ant... |
OMIM:300232 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Holoprosencephaly, Scoliosis, Anterior encephalocele, Ventricular septal defect, Foo... |
OMIM:601357 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition of the great ... |
OMIM:313850 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, V... |
ORPHA:477817 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Coat hanger sign of ribs, Ventricular septal defect, Umbilical hernia,... |
ORPHA:254534 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Abn... |
OMIM:249670 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
| Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Atrial septal defect, Short ribs, Hypoplastic ilia, F... |
ORPHA:2347 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Atrial septal defect, Short ribs, Ventricular septal defect, Postaxi... |
ORPHA:2519 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Short neck, Abnormal form of the vertebral bodies |
ORPHA:2234 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... |
ORPHA:957 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Butterfly vertebrae, Pulmonic stenosis, Overlapping fingers, Pulmo... |
OMIM:301056 |
| Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Atrial septal defect, Short... |
OMIM:245190 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Scoliosis, Ovoid thoracolumbar vertebrae, Umbilical hernia, Asymmetric septal hyp... |
OMIM:252900 |
| Restrictive Dermopathy |
|
Atrial septal defect, Thin ribs, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Camptodacty... |
ORPHA:1662 |
| Wolf-Hirschhorn Syndrome |
|
Hydrocephalus, Radioulnar synostosis, Ventricular septal defect, Sacral dimple, Rib fusion, Scoli... |
OMIM:194190 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
| Achondrogenesis Type 1A |
|
Narrow chest, Multiple rib fractures, Short neck, Short thorax, Short foot, Umbilical hernia, Sho... |
ORPHA:93299 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
| Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Abnormally ossified vertebrae, Short neck, Pectus carinatum, ... |
ORPHA:175 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Abnormal rib mo... |
ORPHA:3035 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Kyphoscoliosis, Polydactyly, Camptodactyly |
OMIM:614815 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... |
ORPHA:1486 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Communicating hydrocephalus, Abnormal... |
ORPHA:2050 |
| Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Butterfly vertebrae, Alobar holoprosencephaly, Hypoplastic left he... |
OMIM:301043 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Abnormality of the vertebral ... |
OMIM:276950 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
| Zttk Syndrome |
|
Rib fusion, Kyphosis, Atrial septal defect, Small hand, Hemivertebrae, Scoliosis, Ventricular sep... |
OMIM:617140 |
| Trisomy 13 |
|
Narrow chest, Ectrodactyly, Kyphosis, Atrial septal defect, Scoliosis, Ventricular septal defect,... |
ORPHA:3378 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Scoliosis, Thoracic kyphoscoliosis |
ORPHA:98913 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Atlantoaxial ... |
OMIM:190685 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Hypopl... |
OMIM:156810 |
| Tarp Syndrome |
|
Hypoplasia of proximal radius, Pectus excavatum, Short sternum, Atrial septal defect, Postaxial p... |
ORPHA:2886 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Tetralogy of Fallot |
OMIM:250620 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... |
OMIM:610319 |
| Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology, Bowing... |
ORPHA:2097 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Holoprosencephaly, He... |
OMIM:264480 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect, Scoliosis |
ORPHA:357225 |
| Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... |
ORPHA:2021 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Kyphosis, Short neck, Genu valgum, Broad ribs, Ovoid vertebral bodies, Abno... |
ORPHA:583 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Bowing of the long bones, Encephalocele, Carpa... |
ORPHA:90652 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... |
ORPHA:2759 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Cervical ribs, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Pectus excavatum, Atrial septal defect, Arachnodactyly, Scoliosis, Pectus carinatum, Camptodactyl... |
OMIM:301039 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Communicating hydrocephalus, Tetralogy of Fallot, Abnormal tho... |
ORPHA:2184 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Ven... |
ORPHA:1908 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Short femur, Short ribs, Adducted thumb, Flared metaphysis, Multiple ... |
OMIM:616897 |
| Achondrogenesis, Type Ia |
|
Narrow chest, Bowing of the legs, Short clavicles, Stillbirth, Short ribs, Hypoplasia of the radi... |
OMIM:200600 |
| Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Kyphoscoliosis, Atrial septal defect, Adducted thumb, Arachnodactyly, Shor... |
OMIM:121050 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Scoliosis, Cam... |
OMIM:300963 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ve... |
OMIM:271640 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Short neck, Anencephaly, Ventricular septal defect, Short long bone, Short ribs, B... |
OMIM:269860 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Clinodactyly of the 5th finger, Broad 2nd toe, Tetralogy of... |
OMIM:280000 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Atrial septal defect, Thin ribs, Long clavicles, Pulmonic stenosis, Long fingers,... |
OMIM:608149 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Toe syndactyly |
ORPHA:251076 |
| Noonan Syndrome 8 |
|
Abnormal sternum morphology, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertroph... |
OMIM:615355 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... |
OMIM:250220 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Slender finger, Pect... |
ORPHA:329224 |
| Meckel Syndrome 14 |
|
Postaxial polydactyly, Holoprosencephaly, Single ventricle, Cyanosis, Short neck, Syndactyly, Pos... |
OMIM:619879 |
| Limb Body Wall Complex |
|
Hydrocephalus, Aplasia of the proximal phalanges of the hand, Anencephaly, Ventricular septal def... |
ORPHA:2369 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Mucopolysaccharidosis, Type Vi |
|
Hydrocephalus, Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodi... |
OMIM:253200 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Drumstick terminal phalanges, Hydrocephalus, Cutis marmorata, Death in childhood, Short neck, Bra... |
OMIM:612938 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Encephalocele, Scoliosis |
ORPHA:398156 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Vacterl/Vater Association |
|
Vertebral segmentation defect, Abnormal cardiac septum morphology, Preaxial hand polydactyly, Ane... |
ORPHA:887 |
| Hurler Syndrome |
|
Spinal canal stenosis, Hydrocephalus, Abnormal clavicle morphology, Camptodactyly of finger, Shor... |
ORPHA:93473 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect |
OMIM:614886 |
| Caudal Duplication |
|
Vertebral segmentation defect, Myelomeningocele, Bifid sacrum, Abnormal sacrum morphology, Spina ... |
ORPHA:1756 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Short neck... |
OMIM:612582 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Lateral clavicle hook, Short ribs, Postaxial polydactyly, Femoral... |
OMIM:615503 |
| Mmep Syndrome |
|
Ventricular septal defect, Triphalangeal thumb, Split foot |
ORPHA:3434 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Cyanosis, Spina bifida, Cervical myelopathy |
OMIM:207950 |
| 8Q24.3 Microdeletion Syndrome |
|
Pectus excavatum, Atrioventricular canal defect, Congenital hip dislocation, Finger clinodactyly,... |
ORPHA:508488 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ectrodactyly, Hydrocephalus, Split foot, 2-3 finger syndactyly, Spina bifida oc... |
ORPHA:2437 |
| Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Ectodermal dysplasia, Atrial septal defect, Short ribs, Cone-shap... |
OMIM:225500 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Spina bifida, Camptodactyly |
OMIM:211960 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Urticaria, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Ventricu... |
OMIM:154400 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Short sternum, Abnormal heart morphology |
OMIM:184800 |
| Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Hemivertebrae, Ventricular septal defect, Umbilical hernia, Polyda... |
ORPHA:672 |
| Cleidocranial Dysplasia |
|
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... |
ORPHA:1452 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
| Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Bell-shaped thorax, Thoracic hypopl... |
OMIM:166210 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| King-Denborough Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Short neck, Scoliosis, Ventricular septal defect, Thoracic ... |
OMIM:619542 |
| Tetrasomy 5P |
|
Overlapping toe, Hydrocephalus, Pectus excavatum, Clinodactyly of the 5th finger, Cyanosis, Short... |
ORPHA:3309 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Cholesterol Pneumonia |
|
Cyanosis, Death in infancy |
OMIM:215030 |
| Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Sandal gap, Umbilical... |
OMIM:619636 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Toe clinodactyly, Patent ductus arteriosus, Toe syndactyly |
ORPHA:261120 |
| Campomelia, Cumming Type |
|
Prematurely aged appearance, Abnormally ossified vertebrae, Brachydactyly, Abnormal thorax morpho... |
ORPHA:1318 |
| Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
| Craniofaciofrontodigital Syndrome |
|
Pectus excavatum, Hypoplastic vertebral bodies, Palmoplantar cutis laxa, Short neck, Hypoplastic ... |
OMIM:114620 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Squared-off platys... |
ORPHA:93352 |
| Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Hydrocephalus, Short neck, Scoliosis, Abnormal form of the vertebr... |
ORPHA:1834 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Postaxial hand poly... |
ORPHA:83473 |
| Mosaic Trisomy 9 |
|
Supernumerary ribs, Atrial septal defect, Hemivertebrae, Camptodactyly of finger, Short neck, Fin... |
ORPHA:99776 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Carpenter Syndrome 2 |
|
Pectus excavatum, Short neck, Pectus carinatum, Umbilical hernia, Clinodactyly of the 5th finger,... |
OMIM:614976 |
| Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Thin ribs, Split f... |
ORPHA:958 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap |
ORPHA:2515 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Thickened ribs, Ovoid thoracolumbar vertebrae, Cardiomegaly |
OMIM:252920 |
| Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Branchial anomaly |
ORPHA:1296 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis |
OMIM:122860 |
| Trisomy 1Q |
|
Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Abnormal rib m... |
ORPHA:261344 |
| Larsen Syndrome |
|
Cervical kyphosis, Beaking of vertebral bodies, Short metatarsal, Accessory carpal bones, Atrial ... |
OMIM:150250 |
| Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Abnormal h... |
ORPHA:93323 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
| Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Slender long bone, Prominent calca... |
OMIM:612921 |
| Roifman Syndrome |
|
Irregular vertebral endplates, Short toe, Clinodactyly of the 5th finger, Biconvex vertebral bodi... |
OMIM:616651 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Cyanosis |
OMIM:263000 |
| 3P25.3 Microdeletion Syndrome |
|
Overlapping toe, Atrial septal defect, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger synda... |
ORPHA:435638 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... |
ORPHA:93317 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cyanosis, Pulmonary artery hypoplasia, Anomalous origin of left co... |
ORPHA:2326 |
| Codas Syndrome |
|
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Scoliosis, Abnormal form of t... |
ORPHA:1458 |
| Nail-Patella Syndrome |
|
Hypoplasia of first ribs, Clinodactyly of the 5th finger, Disproportionate prominence of the femo... |
OMIM:161200 |
| Multiple Pterygium Syndrome, X-Linked |
|
Hypoplastic heart, Thin ribs, Abnormal cervical curvature, Vertebral fusion, Short finger |
OMIM:312150 |
| Aphalangy With Hemivertebrae |
|
Aplasia of the phalanges of the toes, Hemivertebrae, Ventricular septal defect, Aphalangy of hand... |
OMIM:207620 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Tapered finger,... |
OMIM:617159 |
| Diamond-Blackfan Anemia 7 |
|
Sprengel anomaly, Secundum atrial septal defect, Scoliosis, Tetralogy of Fallot, Ventricular sept... |
OMIM:612562 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Brachydactyly, Coarctation of aorta, Tetra... |
ORPHA:2209 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... |
ORPHA:439 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Asymm... |
OMIM:252930 |
| Dextrocardia |
|
Hydrocephalus, Congenital malformation of the great arteries, Congenital hip dislocation, Situs i... |
ORPHA:1666 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Short long bone, Multiple rib fractures, Bruising susceptibility, Platyspondyly, An... |
OMIM:616229 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Sprengel anomaly, Abnormality of the vertebral column |
OMIM:601076 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Cutis marmorata, Syndactyly, Polydactyly, Ventricular septal defect |
OMIM:602501 |
| Dysosteosclerosis |
|
Narrow chest, Irregular vertebral endplates, Abnormal metaphyseal trabeculation, Short sternum, H... |
OMIM:224300 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Hypoplastic left heart, Situs inversus totalis, Abnormal rib morpho... |
ORPHA:991 |
| Restrictive Dermopathy 2 |
|
Short clavicles, Overtubulated long bones, Cyanosis |
OMIM:619793 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Postaxial hand polyd... |
OMIM:308205 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Short neck, Ventricular septal defect, Thoracic kyphosis, Abnormal intervertebral ... |
ORPHA:85194 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, Radioulnar synostos... |
ORPHA:3258 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Overlapping toe, Atrial septal defect, Down-sloping shoulders, Short neck, Scoliosis, Tapered fin... |
OMIM:617452 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... |
ORPHA:363705 |
| Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Vertebral clefting, Hemivertebrae,... |
OMIM:614701 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Hydrocephalus, Femoral bowing, Short 1st metacarpal, 11 pairs... |
OMIM:114290 |
| Lateral Meningocele Syndrome |
|
Kyphosis, Pectus excavatum, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlo... |
ORPHA:2789 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
| Weill-Marchesani Syndrome 1 |
|
Broad metacarpals, Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic s... |
OMIM:277600 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Thoracic hypopl... |
OMIM:618019 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Hypoplastic heart, Thin ribs, Abnormal cervical curvature, Vertebral fusion, Short finger |
OMIM:253290 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pectus excavatum, Atrial septal defect, Arachnodactyly, Cutis marmorata, Finger clinodactyly, Coa... |
OMIM:617602 |
| Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Short clavicles, Telangiectasia of the skin, Short ribs, Spli... |
ORPHA:2092 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Hydrocephalus, Pectus excavatum, Thin ribs, Platyspondyly, Narrow iliac wing |
OMIM:616294 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Abnormal sternum ... |
ORPHA:2847 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Clinodactyly |
OMIM:618506 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Clinodactyly of the 5th finger, Atrial septal defect, 2-3 toe syndactyly, Pectus excava... |
OMIM:617061 |
| Galloway-Mowat Syndrome 7 |
|
Kyphoscoliosis, Pectus excavatum, Arachnodactyly, Partial duplication of thumb phalanx, Ventricul... |
OMIM:618348 |
| Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent ductus a... |
OMIM:601005 |
| Acalvaria |
|
Postaxial hand polydactyly, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Atrial septal defect, Lateral clavicle hook, Short ribs, Platyspondyly, Brachydacty... |
OMIM:263520 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Atrioventri... |
OMIM:605275 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Short 5th finger, Scoliosis, Ventricular septal defect, Patent ductus arte... |
ORPHA:500159 |
| Hypophosphatasia |
|
Abnormal rib morphology, Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones |
ORPHA:436 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
| Noonan Syndrome 4 |
|
Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Bruising susceptibility, Pul... |
OMIM:610733 |
| Charge Syndrome |
|
Hemivertebrae, Down-sloping shoulders, Ventricular septal defect, Hypoplasia of the ulna, Umbilic... |
OMIM:214800 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Urticaria, Slender finger, Muscular ventricular septal defec... |
OMIM:619503 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Hydrocephalus, Pectus excavatum, Minimal subcutaneous fat, Thin ribs, Ara... |
OMIM:182212 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Postaxial hand polyd... |
OMIM:611134 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Vertebral compression fracture, Bowing of ... |
OMIM:617952 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Tibial bowing, Thin ribs, Biconcave vertebral bodies, Scoliosis, Slender long bone, Pro... |
OMIM:259420 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Cyanosis, Chylopericardium |
ORPHA:2414 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
| Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
| Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus, Short palm |
ORPHA:79094 |
| Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Shallow aceta... |
OMIM:252600 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cyanosis, Dextrocardia, Hypoxemia, Patellar hypoplasia, Abnormal p... |
ORPHA:2257 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Absent thumb, Short neck, Coarctation of aorta, Ventricular septal defect, Bilater... |
OMIM:300514 |
| Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Arachnodactyly, Cor p... |
OMIM:305620 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tricuspid stenosis, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis,... |
OMIM:143095 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... |
ORPHA:3068 |
| Recombinant 8 Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Abnormal sternum morpholo... |
ORPHA:96167 |
| Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Femoral bowing, Thin ribs, Short ribs |
OMIM:618188 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Split hand, Brachydactyly, Finger syndactyly, Abnormal rib morphology |
ORPHA:2145 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Pectus excavatum, Aortic tortuosity, Pulmonary artery aneurysm, Pectu... |
OMIM:619472 |
| Waardenburg Syndrome Type 1 |
|
Sprengel anomaly, Scoliosis, Meningocele, Premature graying of hair, Spina bifida |
ORPHA:894 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Left ventricular hype... |
OMIM:616564 |
| Pelger-Huet Anomaly |
|
Kyphosis, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Ventricular septal defect, U... |
OMIM:169400 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Coarctation of aorta, Bell-shaped thorax, Horizontal ribs, Patent ductus ar... |
OMIM:614857 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... |
OMIM:617925 |
| Asbestos Intoxication |
|
Myocardial fibrosis, Oxygen desaturation on exertion, Cor pulmonale, Cyanosis, Hypoxemia, Clubbin... |
ORPHA:2302 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Atrial septal defect, Abnormal common carotid a... |
ORPHA:500150 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Metaphyseal dysplasia, Atrial septal defect, Jaundice |
ORPHA:1667 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis, Abnormal thorax morphology |
ORPHA:70587 |
| Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... |
ORPHA:335 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Pectus excavatum, Atrial septal defect, Abnormal rib cage mo... |
OMIM:270450 |
| Renpenning Syndrome |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphology, Abno... |
ORPHA:3242 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Holoprosencephaly, 3-4 finger cutaneous syndacty... |
OMIM:612530 |
| Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Pectus excavatum, Short neck, Scoliosis, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:52055 |
| Congenital Myasthenic Syndrome |
|
Kyphoscoliosis, Spinal rigidity, Cyanosis, Congenital hip dislocation, Pectus carinatum, Neuropat... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Kyphoscoliosis, Spinal rigidity, Cyanosis, Congenital hip dislocation, Pectus carinatum, Neuropat... |
ORPHA:98914 |
| Mosaic Trisomy 16 |
|
Atrial septal defect, Single coronary artery origin, Syndactyly, Coarctation of aorta, Short femo... |
ORPHA:1708 |
| Waardenburg Syndrome Type 3 |
|
Abnormality of finger, Atrial septal defect, Camptodactyly of finger, Synostosis of carpal bones,... |
ORPHA:896 |
| Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Hydrocephalus, Pectus excavatum, Femoral bowing, Biconcave verte... |
ORPHA:666 |
| Opsismodysplasia |
|
Short palm, Narrow chest, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Sh... |
OMIM:258480 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Short ribs, Postaxial p... |
OMIM:613091 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Kyphoscoliosis, Short ribs |
ORPHA:1145 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Hypoplastic vertebral bodies, Platyspondyly, Ventricular septal de... |
ORPHA:1782 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Duane-Radial Ray Syndrome |
|
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus... |
OMIM:607323 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
| C Syndrome |
|
Dislocated radial head, Scoliosis, Fused sternal ossification centers, Ulnar deviation of finger,... |
OMIM:211750 |
| Mosaic Trisomy 20 |
|
Narrow chest, Abnormal mitral valve morphology, Spinal canal stenosis, Vertebral segmentation def... |
ORPHA:1724 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Overlapping... |
ORPHA:163956 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect,... |
OMIM:618974 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Fryns Microphthalmia Syndrome |
|
Abnormality of the vertebral column, Neural tube defect |
OMIM:600776 |
| Fucosidosis |
|
Kyphosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae, Acrocyanosis, Cardiome... |
ORPHA:349 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Abnormal morphology of the radius, Atrial septal defect |
ORPHA:3469 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect |
OMIM:614262 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Trip... |
OMIM:612561 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Scoliosis, Ventricular septal defect, Patent ductus arteriosus, Umbilical ... |
OMIM:617751 |
| Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Multiple rib fractures, Femoral re... |
OMIM:610682 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Metaphyseal sclerosis, Myocardial necrosis... |
OMIM:260400 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:616277 |
| Weill-Marchesani Syndrome 2 |
|
Broad metacarpals, Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic s... |
OMIM:608328 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:619189 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Myelomeningocele, Supernumerary vertebrae, Supernumerary ribs, Premature grayin... |
OMIM:193500 |
| Steinfeld Syndrome |
|
Holoprosencephaly, Hypoplasia of the radius, Abnormality of the vertebral column, Hypoplasia of t... |
OMIM:184705 |
| Digeorge Syndrome |
|
Intervertebral disc degeneration, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Pate... |
OMIM:188400 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, |
