| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short thorax, Situs inversus totalis, Rib fusion, Hemivertebrae, Vertebral fusion, Dextrocardia, ... |
OMIM:613686 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... |
OMIM:609813 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odon... |
OMIM:277300 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Short thorax, Death in infanc... |
OMIM:618845 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the ribs, Atrial septal defect, Narrow chest, Abnormal mitral valve morphology, Ab... |
ORPHA:1354 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... |
ORPHA:1209 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting |
OMIM:608681 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly, Hemivertebrae, Dextrocardia, ... |
OMIM:173800 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... |
ORPHA:1797 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Pectus excavatum, Coarctation ... |
ORPHA:261243 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Congenital malformation of the great arteries, Stillbirth, A... |
ORPHA:294975 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Prominent sternum, Pectus excavatum, Short 5th metacarpal, Spondylolisthesis, Sandal gap, Pulmoni... |
OMIM:617877 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Camptodactyly of finger, Anomalous pulmonary venous return, Short thorax, Abnormal for... |
ORPHA:2311 |
| Eng-Strom Syndrome |
|
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Pectus excavatum, Abnormal cardiac... |
ORPHA:1937 |
| Spondylocostal Dysostosis 5 |
|
Scoliosis, Posterior rib fusion, Low back pain, Supernumerary ribs, Pectus carinatum, Hemivertebr... |
OMIM:122600 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the ribs, C... |
ORPHA:3268 |
| Becker Nevus Syndrome |
|
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fus... |
ORPHA:64755 |
| Basal Cell Nevus Syndrome |
|
Scoliosis, Cardiac fibroma, Cardiac rhabdomyoma, Spina bifida, Short 4th metacarpal, Polydactyly,... |
OMIM:109400 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Sprengel... |
ORPHA:2345 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Posterior rib fusion, Preaxial hand polydactyly, Ventricular septal defect,... |
OMIM:608406 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Broad thumb, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of ... |
OMIM:612474 |
| Ritscher-Schinzel Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Hemivertebrae, Pulmonic stenosis, Aortic valve s... |
OMIM:220210 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormality of the ribs |
ORPHA:100073 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morphology, Short humer... |
OMIM:314390 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Tetralogy of Fallot, Ve... |
ORPHA:1926 |
| Femoral-Facial Syndrome |
|
Scoliosis, Hip dysplasia, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot pol... |
ORPHA:1988 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Cerebrofaciothoracic Dysplasia |
|
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... |
ORPHA:1394 |
| Holt-Oram Syndrome |
|
Scoliosis, Broad thumb, Split hand, Patent ductus arteriosus, Abnormality of the metacarpal bones... |
ORPHA:392 |
| Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal thorax morphology, Pulmonic... |
ORPHA:1461 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Truncus arteriosus, Ventricular septal defect, Hypoplasia of the ulna, Neonatal death, Syndactyly |
OMIM:228940 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... |
OMIM:231060 |
| Fetal Trimethadione Syndrome |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Transposition of... |
ORPHA:1913 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... |
OMIM:609052 |
| Thymic Aplasia With Fetal Death |
|
Truncus arteriosus, Stillbirth |
OMIM:274210 |
| Metatropic Dysplasia |
|
Scoliosis, Abnormality of the ribs, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narr... |
ORPHA:2635 |
| Carpenter Syndrome 1 |
|
Scoliosis, Flared iliac wing, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spina... |
OMIM:201000 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Short distal phalanx o... |
ORPHA:2516 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormality of the ribs, Anomalous pulmonary venous return, Atrial septal defect, Spina bifida, P... |
ORPHA:1120 |
| 8P23.1 Microdeletion Syndrome |
|
Broad thumb, Enlarged thorax, Abnormal aortic morphology, Broad hallux phalanx, Patent ductus art... |
ORPHA:251071 |
| Catel-Manzke Syndrome |
|
Scoliosis, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormality ... |
ORPHA:1388 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Recombinant Chromosome 8 Syndrome |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Camptodactyly, Pectus excavatum, Pate... |
OMIM:179613 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... |
OMIM:613854 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Sprengel Deformity |
|
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... |
OMIM:184400 |
| Kbg Syndrome |
|
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Clinodactyly, Syndac... |
OMIM:148050 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short iliac bones, Pectus carinatum, Kyphosis, Flattened proximal radial epiphyses, Ba... |
OMIM:271530 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Scoliosis, Atrial septal defect, Postaxial hand polydactyly, Overlapping toe, Narrow chest, Beaki... |
OMIM:213980 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormality of the ribs |
ORPHA:2435 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Scoliosis, Overlapping fingers, Atrial septal defect, Cutaneous syndactyly, Overlapping toe, Vent... |
OMIM:618316 |
| Phaver Syndrome |
|
Triphalangeal thumb, Abnormality of the ribs, Camptodactyly of finger, Broad thumb, Radioulnar sy... |
ORPHA:2876 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... |
ORPHA:1505 |
| Microphthalmia, Syndromic 3 |
|
Vertebral hypoplasia, Ventricular septal defect, Patent ductus arteriosus, Rib fusion, Hemiverteb... |
OMIM:206900 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abno... |
ORPHA:401935 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... |
OMIM:617912 |
| Emanuel Syndrome |
|
Scoliosis, Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular sept... |
ORPHA:96170 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Short neck, Thoracic scoliosis, Preaxial ... |
ORPHA:508498 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormalit... |
ORPHA:2790 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... |
ORPHA:1801 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Platyspondyly, Abnormality of the ribs, Narrow chest, Ventricular s... |
ORPHA:93267 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... |
OMIM:616749 |
| Aicardi Syndrome |
|
Scoliosis, Spina bifida, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Proximal placeme... |
OMIM:304050 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Platyspondyly, Genu valgum, Pectus carinatum, Thoracic kyphosis, Irregular vertebral e... |
OMIM:609223 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... |
OMIM:102510 |
| Emanuel Syndrome |
|
Scoliosis, Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular sept... |
OMIM:609029 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cuti... |
OMIM:615297 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| 22Q11.2 Duplication Syndrome |
|
Scoliosis, Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Tetralogy ... |
ORPHA:1727 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Scoliosis, Hyperlordosis, Genu valgum, Metaphyseal irregularity, Ovoid vertebral bodies, Kyphosis... |
ORPHA:93315 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Syndactyly, Cutis marmorata, Br... |
OMIM:616589 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... |
ORPHA:3426 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Broad toe, Beaking of vertebral bodi... |
OMIM:609616 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Clinodactyly, Short neck, Transposition of the great arteries |
OMIM:616789 |
| Transposition Of The Great Arteries, Dextro-Looped 1 |
|
Transposition of the great arteries |
OMIM:608808 |
| White Forelock With Malformations |
|
Atrial septal defect, Finger syndactyly, Sprengel anomaly, Spina bifida occulta, Abnormality of t... |
ORPHA:2475 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Short finger, Death in childhood, Tapered finger |
OMIM:302000 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Hemivertebrae, Cervical C2/C3 vertebral fusion, Tetralogy of Fallot, S... |
ORPHA:1780 |
| Vater/Vacterl Association |
|
Scoliosis, Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Abnormal vertebral morp... |
OMIM:192350 |
| Cardiospondylocarpofacial Syndrome |
|
Scoliosis, Tarsal synostosis, Cone-shaped epiphysis, Rib fusion, Carpal synostosis, Pseudoepiphys... |
OMIM:157800 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... |
ORPHA:3384 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Scoliosis, Atrial septal defect, Hand polydactyly, Abnormal vertebral morphology, Abnormal heart ... |
ORPHA:261197 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Clinoda... |
OMIM:618164 |
| Femoral-Facial Syndrome |
|
Scoliosis, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Preaxial hand polydactyly, T... |
OMIM:134780 |
| Scimitar Syndrome |
|
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... |
ORPHA:185 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Truncus arteriosus, Stillbirth, Pulmonic stenosis, Aortic valve stenosis,... |
OMIM:615415 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... |
ORPHA:174 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Sprengel anomaly, Scapular winging |
ORPHA:2901 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Thoracic hypoplasia, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac win... |
OMIM:608728 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... |
OMIM:306955 |
| Ververi-Brady Syndrome |
|
Scoliosis, Clinodactyly of the 5th finger, Transposition of the great arteries, Metaphyseal irreg... |
OMIM:617982 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the ribs, Tetralogy of Fallot, Abnormal clavicle morphology |
ORPHA:276422 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... |
OMIM:607778 |
| Thoracolaryngopelvic Dysplasia |
|
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Hypopl... |
OMIM:187760 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... |
OMIM:208530 |
| Aicardi Syndrome |
|
Scoliosis, Hip dysplasia, Rib fusion, Small hand, Block vertebrae, Supernumerary ribs, Missing ri... |
ORPHA:50 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Ventricular septal defect, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short ne... |
OMIM:214300 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Desbuquois Syndrome |
|
Scoliosis, Abnormal femoral neck/head morphology, Camptodactyly of finger, Radioulnar synostosis,... |
ORPHA:1425 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Scoliosis, Camptodactyly of finger, Finger syndactyly, Abnormal sternum morphology, Pectus excava... |
ORPHA:2990 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... |
OMIM:600001 |
| Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Wide-cupped costochondra... |
OMIM:187601 |
| Diaphanospondylodysostosis |
|
Short thorax, Short neck, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnorma... |
ORPHA:66637 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Sandal gap, Ab... |
ORPHA:2180 |
| Autosomal Recessive Robinow Syndrome |
|
Scoliosis, Broad thumb, Split hand, Broad hallux phalanx, Death in infancy, Sandal gap, Short dis... |
ORPHA:1507 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... |
OMIM:617478 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... |
ORPHA:99050 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Ventricular septal defect, Abnormal form of the vertebral bodies, Osteolysi... |
ORPHA:371428 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... |
ORPHA:2008 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... |
OMIM:271520 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Pectus excavatum, Spinal canal stenosis, 11 pairs of ribs, Tetralogy o... |
OMIM:618624 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Wide-cupped costochondral junctions, Sh... |
OMIM:187600 |
| Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Stillbirth, Metaphysea... |
OMIM:269250 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| 1P36 Deletion Syndrome |
|
Scoliosis, Hip dysplasia, Camptodactyly of finger, Bifid ribs, Abnormal heart valve morphology, K... |
ORPHA:1606 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Pulmonic... |
ORPHA:3304 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... |
ORPHA:474 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Sacr... |
OMIM:617516 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect |
OMIM:270100 |
| Rare Circulatory System Disease |
|
Arterial tortuosity, Abnormal metatarsal morphology, Abnormality of finger, Thoracic kyphosis, Ar... |
ORPHA:98028 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral fusion, Dextrocardia, Supernumerary ribs, Vertebral segmentation defect |
OMIM:221950 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Delayed pubic bone ossification, Anterior r... |
OMIM:184250 |
| Cooper-Jabs Syndrome |
|
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Abnormal hip bon... |
ORPHA:1488 |
| Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Short 4th metacarpal, Oligodactyly, Postaxial hand polydactyl... |
OMIM:146510 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Primary Ciliary Dyskinesia |
|
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... |
ORPHA:244 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-shaped humerus, ... |
ORPHA:1836 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Pectus carinatum, Pectus excavatum, Cervical ribs, Abnormality of the ... |
OMIM:609654 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplas... |
OMIM:602271 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Abnormality of the ribs, Genu valgum, Short metatarsal, Upper limb undergrowth, Hy... |
ORPHA:93351 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Pectus ... |
OMIM:271650 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Epiphyseal stippling, Death in infancy, Ventricular septal defect |
OMIM:614876 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Scoliosis, Atrial septal defect, Myocardial fibrosis, Holoprosencephaly, Pulmonic stenosis, Spina... |
OMIM:253800 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Short neck,... |
OMIM:268310 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Camptodactyly, Pectus e... |
OMIM:613458 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Rocker bottom foot, Dislocated radial head, Anterior clefting of vertebral bodies, Cam... |
OMIM:265000 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... |
OMIM:608940 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Ab... |
OMIM:142900 |
| Mucopolysaccharidosis, Type Vi |
|
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... |
OMIM:253200 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Spina bifida, Short umbilical cord, Toe syndactyly, Stillbirth, Ventricular s... |
OMIM:256520 |
| Nevus Comedonicus Syndrome |
|
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... |
ORPHA:64754 |
| Robinow Syndrome |
|
Pulmonary valve atresia, Scoliosis, Tricuspid atresia, Atrial septal defect, Ventricular septal d... |
ORPHA:97360 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Platyspondyly, Hip dysplasia, Dislocated radial head, Abnormal vertebral morphology, A... |
ORPHA:93359 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplas... |
OMIM:113000 |
| Craniodiaphyseal Dysplasia |
|
Abnormality of the ribs, Diaphyseal thickening |
ORPHA:1513 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Pectus carinatum, Coarctation of aorta, Camptodactyly, Ulnar deviation... |
OMIM:616145 |
| Prune Belly Syndrome |
|
Scoliosis, Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Pectus ex... |
ORPHA:2970 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Platyspondyly, Pectus carinatum, Kyphosis, Beaded ribs, Pectus excavatum, Short lower ... |
OMIM:259440 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... |
OMIM:617205 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... |
ORPHA:2255 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubi... |
OMIM:151210 |
| Fibrochondrogenesis 1 |
|
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen ovale, Short neck... |
OMIM:228520 |
| Mucopolysaccharidosis Type 4 |
|
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Short thorax, Abnormality of epiphysis morp... |
ORPHA:582 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Scoliosis, Atrial septal defect, Kyphosis, Sprengel anomaly, Patent ductus arteriosus, Hemiverteb... |
OMIM:618223 |
| Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Short thorax, Pectus ca... |
ORPHA:239 |
| Chromosome 1P36 Deletion Syndrome |
|
Scoliosis, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Aortic root aneurysm, Pa... |
OMIM:607872 |
| Frank-Ter Haar Syndrome |
|
Hip dysplasia, Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Kyphosis... |
OMIM:249420 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ischia, Acetabular dysplasia, Fifth finger distal phalanx clinodactyly, Hydrocephalus... |
ORPHA:2839 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Scoliosis, Atrial septal defect, Sacral dimple, Ventricular septal defect |
OMIM:608227 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Hyperlordosis, Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly,... |
ORPHA:261330 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... |
OMIM:615779 |
| Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Proximal placemen... |
OMIM:618619 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Lateral clavicle hook, Postaxial hand polydactyly, Ventricular septal defect, Thorac... |
OMIM:615630 |
| 3C Syndrome |
|
Scoliosis, Atrial septal defect, Hand polydactyly, Ventricular septal defect, Abnormal tricuspid ... |
ORPHA:7 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Prominent sternum, Constricted iliac wing, ... |
OMIM:253010 |
| Diastrophic Dwarfism |
|
Scoliosis, Hip dysplasia, Camptodactyly of finger, Abnormal clavicle morphology, Hypoplastic cerv... |
ORPHA:628 |
| Melnick-Needles Syndrome |
|
Scoliosis, Abnormality of the ribs, Short thorax, Anisospondyly, Narrow chest, Bowing of the long... |
ORPHA:2484 |
| Isolated Hemihyperplasia |
|
Scoliosis, Myelomeningocele, Asymmetry of the thorax |
ORPHA:2128 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormal hip bone morpho... |
ORPHA:2522 |
| Septopreoptic Holoprosencephaly |
|
Abnormality of the ribs, Abnormal vertebral morphology, Coarctation of aorta |
ORPHA:280195 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the ribs, Abnormal cardiac septum morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Chime Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Abnormality of epiphysis morphology, Short pa... |
ORPHA:3474 |
| Pontine Tegmental Cap Dysplasia |
|
Scoliosis, Rib fusion, Hemivertebrae |
OMIM:614688 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplastic iliac wing, Metaphyseal cupping, T... |
OMIM:300863 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Atrial septal dilatation, Posterior rib gap, Rib fusion, Short ... |
ORPHA:263508 |
| Mucolipidosis Iii Gamma |
|
Scoliosis, Hyperlordosis, Genu valgum, Flared iliac wing, Pectus carinatum, Kyphosis, Abnormal ri... |
OMIM:252605 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Scoliosis, Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Shor... |
OMIM:312870 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Scoliosis, Posterior scalloping of vertebral bodies, Congenital hip dislocation, Metaphyseal irre... |
OMIM:603546 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Short distal phalanx of toe, Patent ductus arteriosus, Short distal phalanx... |
ORPHA:79345 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Ventricular septal defect, Posterior rib gap, Kyphosis, Death in infancy, Bell-shap... |
ORPHA:1393 |
| Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodacty... |
OMIM:223800 |
| Achondrogenesis Type 1B |
|
Short thorax, Narrow chest, Umbilical hernia, Short foot, Abnormality of the ribs, Short neck |
ORPHA:93298 |
| Thoracic Outlet Syndrome |
|
Abnormality of the ribs, Varicose veins |
ORPHA:97330 |
| Cyanosis And Hepatic Disease |
|
Clubbing, Cyanosis |
OMIM:219400 |
| Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck |
ORPHA:94095 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Mcdonough Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pectus carinatum, Pectus excavatum, Radial devia... |
OMIM:248950 |
| Baller-Gerold Syndrome |
|
Scoliosis, Hypoplasia of the radius, Abnormal vertebral morphology, Abnormal heart morphology, Ap... |
OMIM:218600 |
| Gm1-Gangliosidosis, Type I |
|
Scoliosis, Thickened ribs, Cherry red spot of the macula, Abnormal heart valve morphology, Beakin... |
OMIM:230500 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Aplasia/Hypoplasia of... |
ORPHA:3320 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... |
OMIM:601186 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... |
OMIM:177170 |
| Wolf-Hirschhorn Syndrome |
|
Scoliosis, Short hallux, Hypoplastic pubic rami, Atrial septal defect, Preaxial hand polydactyly,... |
ORPHA:280 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Broad ribs, Narrow chest, Ventricular septal defect, Adducted thumb, Cardiom... |
OMIM:617022 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Ventricular septal defect, Holoprosencephaly, Patent ductus arteri... |
ORPHA:77298 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Kyphosis, Postaxial polydactyly, ... |
OMIM:603387 |
| Achondrogenesis, Type Ii |
|
Stillbirth, Broad long bones, Horizontal ribs, Absent vertebral body mineralization, Hypoplastic ... |
OMIM:200610 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell-shaped thorax, ... |
OMIM:615633 |
| Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Prominent sternum, Constricted iliac wing, ... |
OMIM:253000 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Platyspondyly, Pectus carinatum, Carpal bone hypoplasia, Severe carpal... |
OMIM:184252 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Platyspondyly, Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasi... |
OMIM:618395 |
| Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... |
OMIM:605376 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Death in infancy... |
ORPHA:163966 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Aplasia/Hypoplasia of the radius, Anencephaly, Hypoplast... |
ORPHA:2476 |
| Juberg-Hayward Syndrome |
|
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Abnormal vertebral mo... |
ORPHA:2319 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Short hallux, Platyspondyly, Broad ribs, Narrow chest, Finger syndactyly, Abnormal heart valve mo... |
ORPHA:1517 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormal hip bone morphology, Tetralogy of... |
ORPHA:1166 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Prominent floating ribs, Stillbirth |
OMIM:152800 |
| Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... |
ORPHA:3097 |
| Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Irregular iliac cr... |
ORPHA:168549 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Ventricular septal defect, Thoraci... |
OMIM:617895 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormality of the ribs, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Spina bifida, Scapular winging, Toe syndactyly, Narrow chest, Abnormal f... |
ORPHA:1327 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scoliosis, Hyperlordosis, Genu valgum, Atrial septal defect, Scapular winging, Finger joint hyper... |
OMIM:618870 |
| Partial Atrioventricular Septal Defect |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... |
ORPHA:1330 |
| Cardiofaciocutaneous Syndrome 3 |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Pectus excavatum, Pulmonic stenosis, ... |
OMIM:615279 |
| 22Q11.2 Deletion Syndrome |
|
Scoliosis, Patent ductus arteriosus, Abnormal thorax morphology, Short neck, Hydrocephalus, Trunc... |
ORPHA:567 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of the ribs, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
| Mosaic Trisomy 14 |
|
Abnormality of the ribs, Camptodactyly of finger, Short neck, Narrow chest |
ORPHA:1703 |
| Fountain Syndrome |
|
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Kyphosis, Pectus excavatum, Eryth... |
ORPHA:3219 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology, Thoracic hypoplasia, Large placenta, Umbili... |
ORPHA:254534 |
| Feingold Syndrome 2 |
|
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... |
OMIM:614326 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger |
OMIM:187500 |
| Alagille Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal form of the vertebral bodies, Periphera... |
ORPHA:52 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... |
ORPHA:99125 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydac... |
ORPHA:391646 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Abnormal tricuspid valve morphology, Meningocele, Dextrocardia, Missing ... |
ORPHA:1759 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... |
OMIM:613759 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Scoliosis, Camptodactyly, Small hand, Left ventricular hypertrophy, Short foot, Abnormality of th... |
OMIM:611209 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Smith-Mccort Dysplasia 1 |
|
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... |
OMIM:607326 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Patent ductus arteriosus, Pulm... |
OMIM:249670 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Platyspondyly, Prominent sternum, Flared iliac wing, Thoracic kyphosis, Sho... |
OMIM:300232 |
| Pentalogy Of Cantrell |
|
Scoliosis, Atrial septal defect, Abnormality of tibia morphology, Ventricular septal defect, Spli... |
ORPHA:1335 |
| Facial Dysmorphism With Multiple Malformations |
|
Ventricular septal defect, Hemivertebrae, Tetralogy of Fallot, Hydrocephalus, Transposition of th... |
OMIM:227255 |
| Ulnar Hemimelia |
|
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd fing... |
ORPHA:93320 |
| Carpenter Syndrome 2 |
|
Atrial septal defect, Situs inversus totalis, Broad thumb, Pectus carinatum, Camptodactyly, Preax... |
OMIM:614976 |
| Restrictive Dermopathy |
|
Camptodactyly of finger, Atrial septal defect, Short umbilical cord, Thoracic kyphoscoliosis, Apl... |
ORPHA:1662 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, 2-3... |
ORPHA:477817 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Platyspondyly, Atrial septal defect, Coronal cleft vertebrae, Abnormality o... |
ORPHA:2347 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Later... |
OMIM:274000 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnormality of epiphys... |
ORPHA:3082 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
| Achondrogenesis, Type Ia |
|
Hypoplasia of the radius, Unossified vertebral bodies, Stillbirth, Barrel-shaped chest, Hypoplast... |
OMIM:200600 |
| Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Ventricular septal defect, Patent ductus arteriosus, Alobar holopros... |
OMIM:301043 |
| Poland Syndrome |
|
Scoliosis, Absent hand, Split hand, Abnormal sternum morphology, Hemivertebrae, Unilateral brachy... |
ORPHA:2911 |
| Hypertelorism And Tetralogy Of Fallot |
|
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... |
OMIM:239711 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Platyspondyly, Flared iliac wing, Ulnar bowing, Irregular sclerotic endplates, Met... |
OMIM:602111 |
| Achondrogenesis Type 1A |
|
Short thorax, Narrow chest, Umbilical hernia, Multiple rib fractures, Short foot, Short neck, Sho... |
ORPHA:93299 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... |
ORPHA:957 |
| Kniest-Like Dysplasia, Lethal |
|
Platyspondyly, Atrial septal defect, Broad ribs, Coronal cleft vertebrae, Metaphyseal irregularit... |
OMIM:245190 |
| Joubert Syndrome 18 |
|
Polydactyly, Kyphoscoliosis, Camptodactyly, Ventricular septal defect |
OMIM:614815 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Scoliosis, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow iliac wing, Meta... |
OMIM:250420 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Rocker bottom foot, Postaxial hand polydactyly, Ventricular septal defect, P... |
OMIM:301056 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Atrial septal defect, Broad ribs, Ventricular septal defect, Abnormal... |
ORPHA:2519 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Platyspondyly, Shield chest, Barrel-shaped chest, Kyphosis, Irregular epiphyses, Hypop... |
OMIM:313400 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hemivertebrae, Abnormality of the ribs, Short neck, Abnormal form of the vertebral bodies |
ORPHA:2234 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Vascular skin abnormality, Rib fusion, Sacral dimple, Clinodactyly of the 5th finger... |
ORPHA:544488 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Absent hand, Atrial septal defect, Truncus arteriosus, Abnormality of finger, Arrhi... |
ORPHA:2538 |
| 3M Syndrome |
|
Scoliosis, Hyperlordosis, Increased vertebral height, Rocker bottom foot, Short thorax, Congenita... |
ORPHA:2616 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormality of the ribs, Hydrocephalus |
OMIM:300864 |
| Wolf-Hirschhorn Syndrome |
|
Scoliosis, Split hand, Metatarsus adductus, Short thumb, Hydrocephalus, Hip dysplasia, Short hall... |
OMIM:194190 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormality of the ribs, Slender long bone, Abnormality of pelvic girdle bone morphology |
ORPHA:1506 |
| Cartilage-Hair Hypoplasia |
|
Scoliosis, Narrow chest, Spinal dysraphism, Abnormality of the metaphysis, Abnormality of the rib... |
ORPHA:175 |
| Craniofaciofrontodigital Syndrome |
|
Abnormal thumb morphology, Narrow chest, Umbilical hernia, Abnormal hip bone morphology, Abnormal... |
ORPHA:363705 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Misalignment of the pulmonary veins, Posterior rib fusion, Patent ductus arteriosus, Pulmonary ar... |
OMIM:265380 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal form of the vertebral bodies, Slender long bone, Abnormal hip bone morphology, Abnormali... |
ORPHA:1486 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Bowing of the long bones, Aqueductal stenosis, Tibial bowing, Abnormally ossified ... |
ORPHA:3035 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Scoliosis, Abnormality of limb bone morphology, Sprengel anomaly, Cervical C2/C3 vertebral fusion... |
OMIM:118100 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Cole-Carpenter Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Bowing of the long bones, Crumpled lo... |
ORPHA:2050 |
| Campomelic Dysplasia |
|
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Abnormal heart morphology, Th... |
OMIM:114290 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Scoliosis, Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Trisomy 13 |
|
Scoliosis, Atrial septal defect, Postaxial hand polydactyly, Narrow chest, Ventricular septal def... |
ORPHA:3378 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Scoliosis, Cyanosis, Thoracic kyphoscoliosis |
ORPHA:98913 |
| Zttk Syndrome |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, R... |
OMIM:617140 |
| Osteogenesis Imperfecta, Type Xv |
|
Scoliosis, Platyspondyly, Thin ribs |
OMIM:615220 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Tetralogy of Fallot, Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:250620 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly |
OMIM:601357 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... |
ORPHA:2021 |
| Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Nestor-Guillermo Progeria Syndrome |
|
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Atherosclerosis, Progressive c... |
OMIM:614008 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect |
OMIM:614886 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Short femur, Ventricular septal defect, Thoracic hypoplasia, Beaded ribs, Adducted... |
OMIM:616897 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Scoliosis, Short neck, Broad ribs, Biconcave vertebral bodies, Short ribs, Short humerus, Short c... |
OMIM:610319 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Hydrocephalus, Transposition of the great ... |
OMIM:313850 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Abnormal sternum morpho... |
OMIM:615355 |
| Becker Nevus Syndrome |
|
Scoliosis, Cervical ribs, Pectus excavatum, Hemivertebrae |
OMIM:604919 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Pectus carinatum, Camptodactyly, Pect... |
OMIM:301039 |
| Ritscher-Schinzel Syndrome 2 |
|
Scoliosis, Atrial septal defect, Overlapping toe, Ventricular septal defect, Camptodactyly, Paten... |
OMIM:300963 |
| Mucopolysaccharidosis Type 6 |
|
Genu valgum, Broad ribs, Abnormal heart valve morphology, Ovoid vertebral bodies, Kyphosis, Abnor... |
ORPHA:583 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... |
OMIM:614980 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Bowing of the long bones, Abnor... |
ORPHA:2097 |
| Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Narrow ches... |
ORPHA:90652 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Toe syndactyly, Ventricular septal defect |
ORPHA:251076 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Hemivertebrae, Clinodactyly of the 5th finger, Abnormality... |
ORPHA:2759 |
| Tarp Syndrome |
|
Scoliosis, Rocker bottom foot, Atrial septal defect, Hand polydactyly, Finger syndactyly, Pectus ... |
ORPHA:2886 |
| Vacterl Association With Hydrocephalus |
|
Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal heart morphology, Abn... |
OMIM:276950 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Patent ductus arteriosus, Abnormal thorax morphology, Tetralog... |
ORPHA:2184 |
| Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bell-shaped thorax, Th... |
OMIM:608149 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Large iliac wing, Hip subluxation, Flared iliac wing, Ovoid vertebral bodies, Fragile skin, Metat... |
OMIM:271640 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Camptodactyly, Peripheral pulmonary artery stenosis, Broad 2nd toe, Co... |
OMIM:280000 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Narrow chest, Iliac crest s... |
OMIM:250220 |
| Multiple Synostoses Syndrome 1 |
|
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... |
OMIM:186500 |
| Contractural Arachnodactyly, Congenital |
|
Scoliosis, Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defec... |
OMIM:121050 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae |
OMIM:602196 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Cervical ribs, Situs inversus totalis, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Ventricular septal defect |
ORPHA:3434 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Ventricular septal defect, Preaxial polydactyly, Postaxial p... |
OMIM:615503 |
| Frontometaphyseal Dysplasia 1 |
|
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... |
OMIM:305620 |
| Acrofacial Dysostosis 1, Nager Type |
|
Scoliosis, Patent ductus arteriosus, Absent radius, Triphalangeal thumb, Hypoplasia of first ribs... |
OMIM:154400 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, C... |
OMIM:264480 |
| Lambert Syndrome |
|
Jaundice, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Right aortic arch, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
| 8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Narrow chest, Branchial cyst, Patent ductus arteriosus, Long toe, Spi... |
ORPHA:508488 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Caudal Duplication |
|
Spina bifida, Vertebral segmentation defect, Myelomeningocele, Bifid sacrum, Abnormal sacrum morp... |
ORPHA:1756 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Scoliosis, Atrial septal defect, Broad thumb, Ventricular septal defect, Pectus excavatum, Patent... |
ORPHA:329224 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Holoprosencephaly, Spinal d... |
ORPHA:1908 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Patent ductus arteriosus, Toe clinodactyly, Ventricular septal defect |
ORPHA:261120 |
| Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Aphalangy of the hands, Hemivertebrae, Aplasia of the phalanges of the... |
OMIM:207620 |
| Ellis-Van Creveld Syndrome |
|
Genu valgum, Atrial septal defect, Postaxial hand polydactyly, Narrow chest, Ectodermal dysplasia... |
OMIM:225500 |
| Opsismodysplasia |
|
Scoliosis, Anterior rib cupping, Squared iliac bones, Narrow chest, Metaphyseal cupping, Hypoplas... |
OMIM:258480 |
| Microgastria-Limb Reduction Defects Association |
|
Hypoplasia of the radius, Secundum atrial septal defect, Arrhinencephaly, Hypoplasia of the ulna,... |
OMIM:156810 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... |
OMIM:184253 |
| Campomelia, Cumming Type |
|
Prematurely aged appearance, Bowing of the long bones, Death in infancy, Abnormal thorax morpholo... |
ORPHA:1318 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Premature sternal synostosis, Abnormal heart morphology |
OMIM:184800 |
| Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, 3-4 finger syndactyly, Radial deviati... |
ORPHA:2437 |
| Cholesterol Pneumonia |
|
Cyanosis, Death in infancy |
OMIM:215030 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal vertebral morphology, Metaphyseal irregularity,... |
ORPHA:93352 |
| Larsen Syndrome |
|
Scoliosis, Multiple carpal ossification centers, Atrial septal defect, Hypoplastic cervical verte... |
OMIM:150250 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Spina bifida, Camptodactyly |
OMIM:211960 |
| Craniofaciofrontodigital Syndrome |
|
Broad ribs, Abnormal heart morphology, Palmoplantar cutis laxa, Hypoplastic pelvis, Pectus excava... |
OMIM:114620 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Ventricular septal defect |
ORPHA:2515 |
| Cleidocranial Dysplasia |
|
Scoliosis, Genu valgum, Abnormal thumb morphology, Narrow chest, Abnormality of epiphysis morphol... |
ORPHA:1452 |
| Mosaic Trisomy 9 |
|
Scoliosis, Rocker bottom foot, Spina bifida, Atrial septal defect, Camptodactyly of finger, Ventr... |
ORPHA:99776 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Abnormality of the ribs |
ORPHA:195 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Ventricular septal defect, Irregular ver... |
OMIM:616651 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Patent ductus arteriosus, Horizontal ribs, Anencephaly, Bowing of the legs, Patent ... |
OMIM:269860 |
| Axial Mesodermal Dysplasia Spectrum |
|
Scoliosis, Abnormal form of the vertebral bodies, Missing ribs, Abnormality of the ribs, Abnormal... |
ORPHA:1834 |
| Fibular Hemimelia |
|
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... |
ORPHA:93323 |
| Hurler Syndrome |
|
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Abnormal vertebral morphology, ... |
ORPHA:93473 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Postaxial hand polydactyly, Hydrocephalus, Ventricular septal... |
ORPHA:83473 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormality of the ribs, Brachydactyly, Abnormality of epiphysis morphology |
ORPHA:2643 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Ventricular septal defect, Thoracic kyphosis, Abnormality of the intervertebral di... |
ORPHA:85194 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal hypertrophy, Ventricular septal defect |
OMIM:614947 |
| Codas Syndrome |
|
Scoliosis, Congenital hip dislocation, Coronal cleft vertebrae, Abnormal form of the vertebral bo... |
ORPHA:1458 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Metaphyseal chondrodysplasia, Narrow chest, Short palm, Cone-shaped epiphysis, Sho... |
ORPHA:93317 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| 3P25.3 Microdeletion Syndrome |
|
Scoliosis, 2-3 finger syndactyly, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular... |
ORPHA:435638 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae |
OMIM:252900 |
| Acro-Renal-Mandibular Syndrome |
|
Scoliosis, Abnormal clavicle morphology, Hypoplasia of the radius, Rudimentary fibula, Finger syn... |
ORPHA:958 |
| Limb Body Wall Complex |
|
Short umbilical cord, Abnormal thorax morphology, Anencephaly, Aplasia/Hypoplasia involving bones... |
ORPHA:2369 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Cyanosis |
OMIM:263000 |
| Megabladder, Congenital |
|
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... |
OMIM:618719 |
| Trisomy 1Q |
|
Camptodactyly of finger, Short thorax, Preaxial hand polydactyly, Toe syndactyly, Ventricular sep... |
ORPHA:261344 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Polydactyly, Syndactyly, Cutis marmorata, Hydrocephalus |
OMIM:602501 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Hyperlordosis, Ventricular septal defect, Abnormal form of the vertebral bodies, Kypho... |
ORPHA:2789 |
| Multiple Pterygium Syndrome, X-Linked |
|
Short finger, Vertebral fusion, Abnormal cervical curvature, Hypoplastic heart, Thin ribs |
OMIM:312150 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... |
ORPHA:2326 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Broad long bones, Beaded ribs, Tibial bowing, Crumpled long bones, Abnormality of ... |
OMIM:166210 |
| Three M Syndrome 2 |
|
Hyperlordosis, Prominent calcaneus, Short thorax, Scapular winging, Pectus carinatum, Lumbar hype... |
OMIM:612921 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Cardiomegaly |
OMIM:252920 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis |
OMIM:122860 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Clinodactyly, Double outlet right ventricle... |
ORPHA:2209 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hip dysplasia, Rocker bottom foot, Atrial septal defect, Broad toe, Ventricular septal defect, Te... |
OMIM:612582 |
| Tetrasomy 5P |
|
Short hallux, Short neck, Overlapping toe, Pectus excavatum, Cyanosis, Clinodactyly of the 5th fi... |
ORPHA:3309 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect |
OMIM:613751 |
| Digeorge Syndrome |
|
Scoliosis, Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic ... |
OMIM:188400 |
| Diamond-Blackfan Anemia 7 |
|
Scoliosis, Ventricular septal defect, Secundum atrial septal defect, Sprengel anomaly, Patent duc... |
OMIM:612562 |
| Dextrocardia |
|
Situs inversus totalis, Congenital hip dislocation, Congenital malformation of the great arteries... |
ORPHA:1666 |
| Craniorachischisis |
|
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Bifid sternum, Myelomeningocele |
ORPHA:63260 |
| Weill-Marchesani Syndrome 1 |
|
Scoliosis, Broad ribs, Ventricular septal defect, Broad metatarsal, Patent ductus arteriosus, Lum... |
OMIM:277600 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cutis marmorata, Short nec... |
OMIM:612938 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Progeroid facial appearance, Joint contracture of the 5th finger, Cutaneous finger syndactyly, Pr... |
OMIM:602249 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cyanosis |
OMIM:207950 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Finger clinodactyly, Camptodactyly, P... |
OMIM:617602 |
| Nail-Patella Syndrome |
|
Scoliosis, Spina bifida, Hypoplastic radial head, Pectus excavatum, Back pain, Iliac horns, Lumba... |
OMIM:161200 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Short finger, Vertebral fusion, Abnormal cervical curvature, Hypoplastic heart, Thin ribs |
OMIM:253290 |
| Dysosteosclerosis |
|
Platyspondyly, Broad ribs, Narrow chest, Progressive bowing of long bones, Short diaphyses, Short... |
OMIM:224300 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... |
OMIM:300106 |
| Pallister-Hall Syndrome |
|
Broad thumb, Patent ductus arteriosus, Supernumerary metacarpal bones, 3-4 finger cutaneous synda... |
ORPHA:672 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column |
OMIM:601076 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Abnormality of finger, Synostosis of... |
ORPHA:896 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
| Cenani-Lenz Syndrome |
|
Scoliosis, Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Abnorma... |
ORPHA:3258 |
| Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Pectus excavatum, Partial duplication of thumb phalanx, Clinodactyly, ... |
OMIM:618348 |
| Fryns Microphthalmia Syndrome |
|
Abnormality of the vertebral column, Neural tube defect |
OMIM:600776 |
| Charge Syndrome |
|
Scoliosis, Atrial septal defect, Hand polydactyly, Ventricular septal defect, Arrhinencephaly, Ho... |
OMIM:214800 |
| Coffin-Siris Syndrome 10 |
|
Clinodactyly, Ventricular septal defect |
OMIM:618506 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Scoliosis, Postaxial hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral mo... |
OMIM:308205 |
| Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Kyphosis, Pectus excavatum, Narrow iliac wing, Thin ribs, Hydrocephalus |
OMIM:616294 |
| Filippi Syndrome |
|
Cutaneous syndactyly, Finger clinodactyly, 2-4 toe syndactyly, Ventricular septal defect |
OMIM:272440 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Scoliosis, Ventricular hypertrophy, Short phalanx of finger, Shield chest, Short distal phalanx o... |
OMIM:143095 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Broad thumb, Ventricular septal defect, 2-3 toe syndactyly, Sandal gap, Coa... |
OMIM:600987 |
| Leopard Syndrome 3 |
|
Shield chest, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Tetralogy of Fa... |
OMIM:613707 |
| Noonan Syndrome 4 |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Abnormal sternum morphology, Pectus e... |
OMIM:610733 |
| Noonan Syndrome 2 |
|
Atrial septal defect, Shield chest, Abnormal coronary artery origin, Ventricular septal defect, P... |
OMIM:605275 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Kyphoscoliosis |
OMIM:252930 |
| Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Anencephaly, Aplasia/Hypoplasia of the radius, Abno... |
ORPHA:887 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Biconcave vertebral bodies, Kyphosis, Pectus excavatum, Patent ductus arteriosus, Umbi... |
OMIM:130720 |
| Pericardial And Diaphragmatic Defect |
|
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Ab... |
ORPHA:2847 |
| Focal Dermal Hypoplasia |
|
Scoliosis, Camptodactyly of finger, Spina bifida, Hand polydactyly, Toe syndactyly, Ventricular s... |
ORPHA:2092 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Spina bifida, Situs inversus totalis, Abnormal aortic morphology, D... |
ORPHA:991 |
| Timothy Syndrome |
|
Cutaneous syndactyly, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cardiomega... |
OMIM:601005 |
| Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Ventricular septal defect, Death in infancy, Patent ductus arterio... |
OMIM:300514 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Postaxial hand polydactyly, Hydrocephalus |
ORPHA:945 |
| Recombinant 8 Syndrome |
|
Scoliosis, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormal ste... |
ORPHA:96167 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Pulmonary artery atresi... |
OMIM:612946 |
| Pelger-Huet Anomaly |
|
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Po... |
OMIM:169400 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Kyphosis, Anterior beaking of lumbar vertebrae, Cardiome... |
ORPHA:349 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Scoliosis, Platyspondyly, Hyperlordosis, Bowing of the long bones, Metaphyseal cupping, Abnormali... |
ORPHA:85167 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Noonan Syndrome 10 |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pectus carin... |
OMIM:616564 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Bowing of the long bones, Umbilical hernia, Thin ribs, Femoral bowing... |
OMIM:617952 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Postaxial polysyndactyly of foot, Atrial septal defect, Postaxial hand polydactyly... |
OMIM:263520 |
| Orofaciodigital Syndrome Xvii |
|
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... |
OMIM:617926 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Scoliosis, Genu valgum, Minimal subcutaneous fat, C1-C2 vertebral abnormality, Aortic aneurysm, D... |
OMIM:182212 |
| Hypophosphatasia |
|
Abnormality of the metaphysis, Abnormality of the ribs, Bowing of the long bones, Narrow chest |
ORPHA:436 |
| Grange Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Arterial stenosis, Short palm |
ORPHA:79094 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Lateral clavicle hook, Narrow chest, Complete atrioventricular canal defect, Preaxial polydactyly... |
OMIM:617925 |
| Ivic Syndrome |
|
Scoliosis, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar synostosis, ... |
OMIM:147750 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Protrusio acetabuli, Biconcave vertebral bodies, Kyphosis, Tibial bowing, Thin ribs, S... |
OMIM:259420 |
| Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Pectus excavatum, Sandal gap, Radial deviation o... |
OMIM:270450 |
| Waardenburg Syndrome Type 1 |
|
Scoliosis, Spina bifida, Premature graying of hair, Sprengel anomaly, Meningocele |
ORPHA:894 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Pectus carinatum, Abnormal hip bone morphology, Abnormality of the ribs, Clinodact... |
ORPHA:3068 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the ribs, Split hand, Brachydactyly, Finger syndactyly |
ORPHA:2145 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis |
OMIM:601322 |
| Mucolipidosis Iii Alpha/Beta |
|
Scoliosis, Irregular carpal bones, Broad ribs, Split hand, Carpal bone hypoplasia, Short ribs, Sh... |
OMIM:252600 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Scoliosis, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Umbili... |
ORPHA:500159 |
| C Syndrome |
|
Scoliosis, Dislocated radial head, Fused sternal ossification centers, Postaxial hand polydactyly... |
OMIM:211750 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Narrow chest, Femoral bowing, Short ribs |
OMIM:618188 |
| Mosaic Trisomy 16 |
|
Atrial septal defect, Short forearm, Ventricular septal defect, Abnormal heart morphology, Large ... |
ORPHA:1708 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Scoliosis, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular septal defect, Down-sl... |
OMIM:617452 |
| Dysosteosclerosis |
|
Platyspondyly, Ventricular septal defect, Irregular vertebral endplates, Coarse metaphyseal trabe... |
ORPHA:1782 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Short metacarpal, Patell... |
OMIM:617604 |
| Stuve-Wiedemann Syndrome |
|
Scoliosis, Contracture of the proximal interphalangeal joint of the 5th finger, Short phalanx of ... |
OMIM:601559 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Scoliosis, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxial polydactyly, Horizo... |
OMIM:613091 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Camptodactyly, Pulmonic stenosis |
OMIM:614262 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Short ribs, Kyphoscoliosis |
ORPHA:1145 |
| Mosaic Trisomy 20 |
|
Scoliosis, Narrow chest, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricula... |
ORPHA:1724 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Pericardial effusion, Camptodactyly, ... |
OMIM:235510 |
| Renpenning Syndrome |
|
Abnormal thumb morphology, Sprengel anomaly, Pectus excavatum, Abnormality of the ribs, Clinodact... |
ORPHA:3242 |
| Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Pectus carinatum, Spinal rigidity, Spinal deformities, Kyphoscoliosis... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Pectus carinatum, Spinal rigidity, Spinal deformities, Kyphoscoliosis... |
ORPHA:98914 |
| Osteogenesis Imperfecta, Type Xvi |
|
Beaded ribs, Vertebral compression fracture |
OMIM:616229 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Double outlet right ventricle, Metaphyseal dysplasia, Atrial septal defect |
ORPHA:1667 |
| Asbestos Intoxication |
|
Clubbing of fingers, Myocardial fibrosis, Oxygen desaturation on exertion, Cor pulmonale, Hypoxem... |
ORPHA:2302 |
| Steinfeld Syndrome |
|
Hypoplasia of the radius, Abnormality of the vertebral column, Abnormal vertebral morphology, Abn... |
OMIM:184705 |
| Osteogenesis Imperfecta |
|
Scoliosis, Abnormality of long bone morphology, Abnormality of tibia morphology, Narrow chest, Ab... |
ORPHA:666 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Left Ventricular Noncompaction 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... |
OMIM:604169 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:612561 |
| Weill-Marchesani Syndrome 2 |
|
Scoliosis, Short metatarsal, Broad ribs, Ventricular septal defect, Broad metatarsal, Short finge... |
OMIM:608328 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... |
OMIM:618974 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis, Abnormal thorax morphology |
ORPHA:70587 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Foot polydactyly, Missing ri... |
ORPHA:3186 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Supernumerary vertebrae, Myelomeningocele, Premature graying of hair, Sprengel anom... |
OMIM:193500 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Cyanosis, Chylopericardium |
ORPHA:2414 |
| Cerebrocostomandibular Syndrome |
|
Scoliosis, Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Thoracic ... |
OMIM:117650 |
| Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... |
OMIM:260400 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Scoliosis, Atrial septal defect, Ventricular septal defect, Spina bifida... |
OMIM:301030 |
| Mucopolysaccharidosis, Type Iiid |
|
Thickened ribs, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Short neck |
OMIM:252940 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
| Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Slender finger, Ventricular septal defect |
OMIM:147800 |
| Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Right ventricular hypertrophy, Left ventricular hypertrophy, Subcutaneous he... |
ORPHA:335 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmonary artery... |
ORPHA:163956 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary artery morphology, Dextrocardia, Pat... |
ORPHA:2257 |
| Oculoauriculofrontonasal Syndrome |
|
Scoliosis, Ventricular septal defect |
ORPHA:398156 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Hypoplastic sacrum, Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Absence of th... |
OMIM:617660 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Humeroradial synostosis, Narrow chest, Forearm undergrowth, Absent radius, Abnormal... |
OMIM:251230 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... |
OMIM:271665 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Misalignment of the pulmonary veins, Death in infancy, Neonatal death, Clubbing, Cyanosis |
OMIM:265120 |
| Osteogenesis Imperfecta, Type Vii |
|
Scoliosis, Hypoplastic pulmonary veins, Protrusio acetabuli, Narrow chest, Absent pulmonary arter... |
OMIM:610682 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Scoliosis, Macrodactyly, Spinal dysraphism, Sandal gap, Venous malformation |
OMIM:612918 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Clinodactyly, Cutis marmorata, Tetralogy of Fallot |
OMIM:613398 |
| Occipital Horn Syndrome |
|
Carotid artery tortuosity, Platyspondyly, Genu valgum, Broad ribs, Narrow chest, Pectus carinatum... |
OMIM:304150 |
| Loeys-Dietz Syndrome 5 |
|
Atrial septal defect, Scapular winging, Congenital finger flexion contractures, Ventricular septa... |
OMIM:615582 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect |
OMIM:616901 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Vertebral segmentation defect, Deviation of finger |
ORPHA:1104 |
| Holzgreve Syndrome |
|
Hand polydactyly, Abnormality of the metacarpal bones, Abnormally ossified vertebrae, Abnormality... |
ORPHA:2167 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Atrial septal defect, Patent ductus arteriosus after birth at term, Abnormal heart morphology, Ri... |
ORPHA:500150 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly, Spinal dysrap... |
ORPHA:96334 |
| Oculocerebrocutaneous Syndrome |
|
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Short distal phalanx of finger, ... |
ORPHA:1647 |
| Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Ventricular septal defect, Flat acetabular roof, Short clavicles, Coarctati... |
OMIM:617159 |
