| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
| Fibromuscular Dysplasia, Arterial |
|
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... |
OMIM:135580 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... |
OMIM:132900 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve, Chronic pulmonary obstruction, Ascending aortic dissection, Scoliosis, Art... |
OMIM:619825 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Asthma, Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Thoracolu... |
OMIM:130090 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Genu recurvatum, Hyperextensibility of the finger joints, Pulmonic stenosis, Scoliosis,... |
OMIM:609008 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Craniosynostosis, Dolichocephaly, Coarctation of aorta, Tetralogy of Fallot... |
ORPHA:261243 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Secundum atrial septal defect, Scoliosis, Cerebral cavernous malformation, Transpo... |
OMIM:619910 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Scoliosis, Aortic aneurysm |
OMIM:604308 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Ventricular septal defect, Aortic root aneurysm, Scaphocephaly, Patellar ... |
OMIM:121050 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, ... |
OMIM:616166 |
| Igg4-Related Aortitis |
|
Asthma, Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch... |
ORPHA:449400 |
| Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Diffuse alveolar hemorrha... |
ORPHA:199241 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Spondylolisthesis, Bruising susceptibility, Dolichocephaly, Aortic tortuos... |
OMIM:614816 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Mitral regurgitation, Scoliosis, Abdominal aortic aneurysm, Aortic arch an... |
OMIM:617168 |
| Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Telangiectasia, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palp... |
ORPHA:2038 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Vascular dilatation, Craniosynostosis |
OMIM:225755 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Scoliosis, Camptodactyly, Ventricular septal defect, ... |
OMIM:301039 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Bruising susceptibility, G... |
OMIM:618000 |
| Meester-Loeys Syndrome |
|
Joint dislocation, Flexion contracture, Mitral regurgitation, Pulmonary artery aneurysm, Cervical... |
OMIM:300989 |
| Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
| Periventricular Nodular Heterotopia |
|
Joint hypermobility, Abnormal bleeding, Shoulder dislocation, Scoliosis, Aortic regurgitation, Pa... |
ORPHA:98892 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Central hypoventilation, Mitral valve prolapse, Aortic ... |
ORPHA:171881 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic kyphoscoliosis, Aortic dissection, Hip subluxation, Arterial rupture, Patell... |
ORPHA:1900 |
| Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Stroke, Heart murmur, Cough, Dilatation of the sinus of Valsalva, Aortic ... |
ORPHA:1054 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Abnormal carotid artery morphology, Craniosynos... |
ORPHA:3342 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Coronal craniosynostosis, Ventricular septal defect, Frontal bossing, Sagit... |
OMIM:145420 |
| Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Loeys-Dietz Syndrome |
|
Joint dislocation, Bruising susceptibility, Craniosynostosis, Abnormal bleeding, Camptodactyly of... |
ORPHA:60030 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... |
ORPHA:99094 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... |
ORPHA:860 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Stroke, Craniosynostosis, Osteopenia, Repeated... |
ORPHA:536467 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Bruising susceptibility, Hyperextensibility of the finger joints, Hyperextensi... |
OMIM:130000 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Joint dislocation, Genu recurvatum, Atrial septal defect, Bruising susceptibility... |
ORPHA:230851 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Craniosynostosis 1 |
|
Oxycephaly, Aortic valve stenosis, Craniosynostosis, Dolichocephaly, Systolic heart murmur, Promi... |
OMIM:123100 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Atrial septal defect, Craniosynostosis, Pulmonary artery aneurysm, Ascendi... |
OMIM:609192 |
| Boudin-Mortier Syndrome |
|
Mitral valve prolapse, Joint laxity, Aortic root aneurysm |
OMIM:619543 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Bruising susceptibility, Craniosynostosis, Hyperextensibility of the finger joints, Mit... |
OMIM:616914 |
| Loeys-Dietz Syndrome 2 |
|
Craniosynostosis, Pulmonary artery aneurysm, Aortic root aneurysm, Spontaneous pneumothorax, Spon... |
OMIM:610168 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Craniosynostosis, Aortic tortuosity, Subarachnoid hemorrhage, Dilatat... |
OMIM:613795 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Marfanoid Hypermobility Syndrome |
|
Joint hypermobility, Mitral regurgitation, Scoliosis, Aortic regurgitation, Aortic aneurysm |
OMIM:154750 |
| Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Atrial septal defect, Tricuspid regurgitation, Mitral regurgitation, Patent ductu... |
ORPHA:404443 |
| Craniorhiny |
|
Turricephaly, Oxycephaly, Craniosynostosis |
OMIM:123050 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Phalangeal dislocation, Aortic root aneurysm, Carotid artery stenosis, Sacral dimple,... |
ORPHA:536532 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Loeys-Dietz Syndrome 6 |
|
Carotid artery dilatation, Thoracic aortic aneurysm, Intervertebral disc degeneration, Scoliosis,... |
OMIM:619656 |
| Giant Cell Arteritis |
|
Joint stiffness, Double outlet right ventricle with subpulmonary ventricular septal defect withou... |
ORPHA:397 |
| Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Atrioventricular canal defect, Unbalanced atriove... |
OMIM:618300 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Abnormal pattern of respiration, V... |
ORPHA:3287 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Craniosynostosis, Dolichocephaly, Short neck, Frontal bossing, Patent ductus arteriosus, Sacral d... |
ORPHA:1516 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Finger joint hypermobility, Hemothorax, Foot acroosteolysis, Repeated pneumothoraces, Hypermobili... |
OMIM:130050 |
| Aneurysm-Osteoarthritis Syndrome |
|
Dilatation of the sinus of Valsalva, Aortic dissection, Knee osteoarthritis, Abnormal heart morph... |
ORPHA:284984 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... |
ORPHA:99050 |
| Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Craniosynostosis, Osteopenia, Short neck, Platyspondyly, Radioulnar synostosis, Genu valgum, Aort... |
OMIM:245600 |
| Loeys-Dietz Syndrome 5 |
|
Kyphoscoliosis, Atrial septal defect, Spondylolisthesis, Bruising susceptibility, Dolichocephaly,... |
OMIM:615582 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Camptodactyly, Aortic dissection, Vascular dilatation, Varicose veins, A... |
OMIM:618343 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Sagittal craniosynostosis, Abnormal heart morphology |
OMIM:218450 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Hemothorax, Persistent bleeding after trauma, Bruising susceptibility |
OMIM:262850 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
| Aurocephalosyndactyly |
|
Craniosynostosis |
OMIM:109050 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... |
OMIM:175050 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Scoliosis, Mitral valve prolapse, Joint laxity, Aortic root aneurysm, Hypertension |
ORPHA:449291 |
| X Small Rings |
|
Mitral stenosis, Bicuspid aortic valve, Reduced bone mineral density, Short neck, Osteoporosis, V... |
ORPHA:96201 |
| Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Summitt Syndrome |
|
Oxycephaly, Craniosynostosis |
OMIM:272350 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of the vertebral ... |
ORPHA:1354 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemor... |
ORPHA:363618 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Foam cells, Hypoplastic... |
OMIM:230650 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Tachypnea, Aorti... |
OMIM:613834 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis |
ORPHA:1527 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation, Craniosynost... |
OMIM:617506 |
| Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Atrial septal defect, Mitral regurgitation, Ventricular septal defe... |
OMIM:603387 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Brachycephaly, Thickened calvaria, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... |
OMIM:617577 |
| Craniosynostosis 3 |
|
Right unicoronal synostosis, Sagittal craniosynostosis, Left unicoronal synostosis, Bicoronal syn... |
OMIM:615314 |
| Marfan Syndrome |
|
Osteopenia, Aortic tortuosity, Spontaneous pneumothorax, Arthralgia/arthritis, Spondylolisthesis,... |
ORPHA:558 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Frontal bossing, Patent ductus arteriosus, Transposi... |
OMIM:612474 |
| Immunodeficiency 23 |
|
Asthma, Vasculitis in the skin, Scoliosis, Allergic rhinitis, Aortic root aneurysm, Joint hypermo... |
OMIM:615816 |
| Temtamy Syndrome |
|
Dolichocephaly, Joint hyperflexibility, Genu varum, Aortic aneurysm |
ORPHA:1777 |
| Koolen-De Vries Syndrome |
|
Kyphosis, Bicuspid aortic valve, Atrial septal defect, Spondylolisthesis, Pulmonic stenosis, Prom... |
OMIM:610443 |
| Neonatal Marfan Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Flexion... |
ORPHA:284979 |
| Lowry-Maclean Syndrome |
|
Abnormal heart morphology, Craniosynostosis |
OMIM:600252 |
| Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
| Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
| Phaver Syndrome |
|
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Coarctation of aorta, Abnormal for... |
ORPHA:2876 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Ventricular septal defect, Polyhydramnios, Pulmonary hypoplasia, Aor... |
OMIM:620025 |
| Osteogenesis Imperfecta, Type I |
|
Recurrent fractures, Bruising susceptibility, Biconcave flattened vertebrae, Osteopenia, Aortic a... |
OMIM:166200 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Distal foot symphalangism, Craniosynostosis |
OMIM:185700 |
| Opitz Gbbb Syndrome |
|
Vertebral segmentation defect, Atrial septal defect, Tracheomalacia, Craniosynostosis, Prominent ... |
ORPHA:2745 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Scaphocephaly, Ventricular septal defect, Trigonocephaly, Craniosynostosis |
OMIM:616901 |
| Marfan Syndrome |
|
Tricuspid valve prolapse, Mitral annular calcification, Aortic dissection, Aortic root aneurysm, ... |
OMIM:154700 |
| Alkaptonuria |
|
Kyphosis, Aortic valve calcification, Intervertebral disc degeneration, Mitral valve calcificatio... |
OMIM:203500 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, Sagittal craniosynostosis |
OMIM:185900 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dolichocephaly, Frontal bossing, Orbital craniosynostosis |
ORPHA:1538 |
| Congenital Contractural Arachnodactyly |
|
Joint stiffness, Flexion contracture, Camptodactyly of finger, Scoliosis, Congenital kyphoscolios... |
ORPHA:115 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Joint contracture of the hand, Craniosynostosis, Scoliosis, Thoracolumbar scoliosis, Arthropathy,... |
OMIM:618523 |
| Carpenter Syndrome |
|
Kyphoscoliosis, Craniosynostosis, Cloverleaf skull, Genu valgum, Patent ductus arteriosus, Turric... |
ORPHA:65759 |
| Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
| Fragile X Syndrome |
|
Sinusitis, Frontal bossing, Mitral valve prolapse, Joint laxity, Ascending tubular aorta aneurysm |
ORPHA:908 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Bilateral lung agenesis, Coarctati... |
OMIM:601612 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
| Osteogenesis Imperfecta |
|
Osteopenia, Biconcave vertebral bodies, Genu valgum, Aortic dissection, Pulmonary hypoplasia, Aor... |
ORPHA:666 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
| Cocaine Intoxication |
|
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... |
ORPHA:90068 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Premature posterior fontanelle closure, Ventricular septal defect, Small anterior fontanelle, Sag... |
OMIM:314320 |
| Craniosynostosis, Adelaide Type |
|
Carpal bone malsegmentation, Craniosynostosis |
OMIM:600593 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... |
OMIM:620067 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Joint stiffness, Respiratory insufficiency, Tetralogy of Fallot, V... |
ORPHA:1166 |
| Enlarged Parietal Foramina |
|
Parietal foramina, Abnormal cerebral vein morphology, Venous malformation, Craniosynostosis |
ORPHA:60015 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Craniosynostosis |
OMIM:218530 |
| Multiple Osteochondromas |
|
Hemothorax, Talipes valgus, Arthritis, Abnormal bone structure, Limitation of knee mobility, Genu... |
ORPHA:321 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Dolichocephaly, Scoliosis, Abnormal form ... |
ORPHA:40 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stroke, Medial calcification of medium-sized arteries, Aortic dissection, V... |
ORPHA:51608 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Premature posterior fontanelle closure, Metopic suture patent to nasal root, Ventricular septal d... |
ORPHA:3369 |
| Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
| Adducted Thumbs Syndrome |
|
Respiratory insufficiency, Arthrogryposis multiplex congenita, Craniosynostosis |
OMIM:201550 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Scoliosis, Spina bifida occulta, Flat occiput, Bicoronal synostosis, Delayed closure of the anter... |
OMIM:618736 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:241310 |
| Distal Tetrasomy 15Q |
|
Kyphosis, Atrial septal defect, Flexion contracture, Craniosynostosis, Scoliosis, Camptodactyly, ... |
ORPHA:314588 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Abnormal systemic arterial morphology, Mitral valve prolapse, Dilatation of the cerebral artery, ... |
ORPHA:730 |
| Rin2 Syndrome |
|
Joint hypermobility, Bruising susceptibility, Upper eyelid edema, Scoliosis, Increased susceptibi... |
ORPHA:217335 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta, Genu varum |
ORPHA:1110 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Hypophosphatasia, Childhood |
|
Dolichocephaly, Frontal bossing, Craniosynostosis |
OMIM:241510 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Short neck, Flat occiput, Patent ductus arteriosus, Abnormal aortic morph... |
ORPHA:2001 |
| Trigonocephaly 1 |
|
Lumbar hemivertebrae, Trigonocephaly, Craniosynostosis |
OMIM:190440 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... |
ORPHA:980 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Craniosynostosis, Dolichocephaly, Delayed cranial suture closure, ... |
OMIM:175700 |
| Hypophosphatasia, Infantile |
|
Apnea, Widely patent fontanelles and sutures, Craniosynostosis, Vertebral clefting, Decreased cal... |
OMIM:241500 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Craniosynostosis, Osteopenia, Scoliosis, Frontal bossing, Recurrent pneumoni... |
OMIM:147060 |
| Sandhoff Disease |
|
Kyphosis, Recurrent respiratory infections, Cherry red spot of the macula, Congestive heart failure |
ORPHA:796 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Flexion contracture, Ankle clonus, Talipes valgus, Aortic root aneurysm |
OMIM:618891 |
| Zimmermann-Laband Syndrome 1 |
|
Dolichocephaly, Hyperextensibility of the finger joints, Scoliosis, Spina bifida occulta, Aortic ... |
OMIM:135500 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis |
OMIM:218650 |
| Craniosynostosis 6 |
|
Plagiocephaly, Craniosynostosis, Delayed cranial suture closure, Scoliosis, Spina bifida occulta,... |
OMIM:616602 |
| Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum |
OMIM:168400 |
| Weill-Marchesani Syndrome 2 |
|
Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic ste... |
OMIM:608328 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... |
OMIM:601927 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Craniosynostosis, Radioulnar synostosis, Patent ductus arteriosus, Large fontanell... |
ORPHA:171839 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1727 |
| Classical Ehlers-Danlos Syndrome |
|
Tricuspid valve prolapse, Osteopenia, Orthostatic hypotension, Phalangeal dislocation, Arterial r... |
ORPHA:287 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Craniosynostosis, Scoliosis, Genu varum, Copper beaten skull, Joint laxity,... |
OMIM:619451 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
| Holt-Oram Syndrome |
|
Joint stiffness, Kyphosis, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic l... |
ORPHA:392 |
| Craniosynostosis 2 |
|
Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis, Unicoronal synostosi... |
OMIM:604757 |
| Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
| Phace Syndrome |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Coarctation of aorta, Tet... |
ORPHA:42775 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cervical C2/C3 vertebral fusion, Asthma, Plagiocephaly, Sleep apnea, Tracheomalacia, Aspiration p... |
ORPHA:444077 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... |
OMIM:619472 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... |
OMIM:239850 |
| Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Joint stiffness, Short neck, Abnormal lung lobation, Ventricular septal defect, Abnormal aortic m... |
ORPHA:2516 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis, Dilated car... |
OMIM:300718 |
| Temtamy Syndrome |
|
Hip dislocation, Aortic regurgitation, Frontal bossing, Aortic aneurysm |
OMIM:218340 |
| Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Respiratory insufficiency due to muscle weakness |
OMIM:617087 |
| Methimazole Embryofetopathy |
|
Calvarial skull defect, Coarctation of aorta, Ventricular septal defect, Polyhydramnios, Abnormal... |
ORPHA:1923 |
| Lowry-Maclean Syndrome |
|
Widely patent coronal suture, Craniosynostosis, Atrioventricular canal defect, Osteopenia, Osteop... |
ORPHA:2409 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... |
ORPHA:95430 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
| Au-Kline Syndrome |
|
Dolichocephaly, Scoliosis, Sacral dimple, Craniosynostosis |
OMIM:616580 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent fractures, Osteomyelitis, Craniosynostosis, Osteopenia, Scoliosis, Cough, Vascular dila... |
ORPHA:2314 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Craniosynostosis |
OMIM:608432 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Scoliosis, Joint hypermobility |
OMIM:618906 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
| Carpenter Syndrome 1 |
|
Short neck, Ventricular septal defect, Genu valgum, Sagittal craniosynostosis, Lateral displaceme... |
OMIM:201000 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
| Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Craniosynostosis, Joint hypermobility |
OMIM:616721 |
| Cockayne Syndrome Type 3 |
|
Kyphosis, Stroke, Subdural hemorrhage, Premature coronary artery atherosclerosis, Flexion contrac... |
ORPHA:90324 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... |
ORPHA:3384 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Right ventricular hypertrophy, Short ... |
ORPHA:280633 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Osteopenia, Mitral regurgitation, Pulmonary insufficiency, Osteopo... |
ORPHA:2326 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Coronal craniosynostosis, Osteopenia, Oligohydramnios, Platyspondyly, Wormian bones, Fr... |
OMIM:616294 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Summitt Syndrome |
|
Plagiocephaly, Craniosynostosis, Prominent metopic ridge, Camptodactyly of finger, Genu valgum |
ORPHA:3210 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Midface retrusion, Craniosynostosis |
OMIM:612247 |
| Rare Circulatory System Disease |
|
Intermittent claudication, Arterial calcification, Abnormal vascular morphology, Spinal rigidity,... |
ORPHA:98028 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sleep apnea, Atrial septal defect, Craniosynostosis, Dolichocephaly, Coarctation of aorta, Abnorm... |
OMIM:614114 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Wide anterior fontanel, Genu recurvatum, Joint contracture of the hand, C... |
OMIM:182212 |
| Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, Camptodactyly of finger, Prominent metopic ridge, Prominent occiput, Vent... |
OMIM:616920 |
| Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Ab... |
ORPHA:101028 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Craniosynostosis, Midface retrusion, Polyhydramnios, Patent ductus arterios... |
ORPHA:1790 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Vascular tortuosity, Joint laxity, Emphysema, Ascending tubular aorta aneurysm, Oligohydramnios, ... |
OMIM:219100 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Frontal bossing, Atrial septal defect, Coarctation of aorta |
OMIM:614300 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Brachycephaly, Craniosynostosis |
OMIM:614416 |
| Alg3-Cdg |
|
Osteopenia, Coarctation of the descending aortic arch, Pulmonary hypoplasia, Arthrogryposis multi... |
ORPHA:79321 |
| 20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Atrial septal defect, Oligohydramnios, Hematochezia, Sacra... |
ORPHA:261311 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Kyphosis, Apnea, Hyperextensibility of the finger joints, Congen... |
OMIM:619797 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Craniosynostosis, Oligohydramnios, Aplasia/Hypoplasia of the lungs, Turricephaly |
ORPHA:2145 |
| Fg Syndrome Type 1 |
|
Plagiocephaly, Widely patent fontanelles and sutures, Atrial septal defect, Generalized joint lax... |
ORPHA:93932 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Ventricular septal defect, Osteolysis, Pterygium, Osteolysis involving tarsal bones, ... |
ORPHA:371428 |
| Diabetic Embryopathy |
|
Vertebral segmentation defect, Tetralogy of Fallot, Ventricular septal defect, Frontal bossing, A... |
ORPHA:1926 |
| Non-Specific Syndromic Intellectual Disability |
|
Kyphosis, Scoliosis, Pulmonary artery dilatation, Aortic root aneurysm, Joint hypermobility |
ORPHA:528084 |
| Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized osteopor... |
OMIM:277950 |
| Cole-Carpenter Syndrome 1 |
|
Recurrent fractures, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Scoliosis, F... |
OMIM:112240 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Unilambdoid synostosis, Scoliosis, Ulnar deviation of the wrist, Brachycephaly, Mi... |
OMIM:618577 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis |
OMIM:601370 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Peripheral pulmonary artery stenosis, Spina bifida occulta, Bicuspid aortic valve, Craniosynostosis |
OMIM:300707 |
| Epidermal Nevus Syndrome |
|
Spinal canal stenosis, Osteopenia, Thoracolumbar scoliosis, Aortic aneurysm |
ORPHA:35125 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis, Osteoporosis, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Joint subluxation, Bruising susceptibility, Osteopenia, Scoliosis, Congenital bilateral... |
OMIM:130060 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Parietal bossing, Pu... |
OMIM:619343 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... |
ORPHA:2306 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Craniosynostosis, Heart murmur, Ventricular septal defect, Frontal bossing, Abnormal vena cava mo... |
ORPHA:166035 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Carpal synostosis, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vertebral segmentation defect, Plagiocephaly, Bicuspid aortic valve, Atrial septal defect, Cranio... |
ORPHA:453499 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
| Thanatophoric Dysplasia |
|
Joint stiffness, Kyphosis, Atrial septal defect, Increased nuchal translucency, Respiratory insuf... |
ORPHA:2655 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Abnormal left ventricular function, Butterfly vertebrae, Craniosyn... |
OMIM:301056 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Atrial septal defect, Craniosynostosis, Ventricular septal defect, Patent ductus a... |
ORPHA:457193 |
| Frontoocular Syndrome |
|
Coronal craniosynostosis, Pulmonic stenosis, Trigonocephaly, Atrial septal defect |
OMIM:605321 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Arrhythmia, Camptodactyly |
OMIM:618453 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Kyphosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Sc... |
OMIM:177850 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Heart murmur, Basilar artery calcification, Transient ischemic attack, Resp... |
ORPHA:365 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... |
OMIM:313420 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Flexion contracture, Congenital hip dislocation, Scoliosis, Respiratory failure, Arthro... |
OMIM:618291 |
| Crouzon Syndrome |
|
Respiratory insufficiency, Frontal bossing, Multiple suture craniosynostosis, Abnormal sacrum mor... |
ORPHA:207 |
| Cranioectodermal Dysplasia |
|
Craniosynostosis, Dolichocephaly, Osteoporosis, Prominent occiput, Frontal bossing, Joint hyperfl... |
ORPHA:1515 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Increased bone mineral density, Osteopetrosis, Delayed cranial suture clos... |
ORPHA:2780 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea, Dolichocephaly, Sagittal craniosynostosis, Plantar flexion contractures, Cont... |
ORPHA:2872 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
| Slc35A2-Cdg |
|
Craniosynostosis, Osteopenia, Camptodactyly of finger, Scoliosis, Tetralogy of Fallot, Hip sublux... |
ORPHA:356961 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Stroke, Finger joint hypermobility, Anomalous branches of internal carotid ... |
ORPHA:363705 |
| Craniofrontonasal Dysplasia |
|
Plagiocephaly, Craniosynostosis, Camptodactyly of finger, Scoliosis, Frontal bossing, Brachycepha... |
ORPHA:1520 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Myocardial infarction, Genu valgum, Aortic dissection, Gastrointestinal a... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Short neck, Myocardial infarction, Genu valgum, Aortic dissection, Gastrointestinal a... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Short neck, Myocardial infarction, Genu valgum, Aortic dissection, Gastrointestinal a... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Short neck, Myocardial infarction, Genu valgum, Aortic dissection, Gastrointestinal a... |
ORPHA:881 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Larsen Syndrome |
|
Beaking of vertebral bodies, Accessory carpal bones, Knee dislocation, Atrial septal defect, Trac... |
OMIM:150250 |
| Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Respiratory insufficiency, Emphysema, Large fontanelles |
ORPHA:436 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Craniosynostosis, Osteopenia, Mitral regurgitation, ... |
ORPHA:457395 |
| Macs Syndrome |
|
Joint hypermobility, Bruising susceptibility, Palpebral edema, Scoliosis, Osteoporosis, Joint lax... |
OMIM:613075 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Craniosynostosis, Dolichocephaly, Short neck, Limited elbow extension, Fron... |
OMIM:609625 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... |
OMIM:265380 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Craniosynostosis, Coronal crani... |
OMIM:101200 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
| Cdags Syndrome |
|
Kyphosis, Parietal foramina, Coronal craniosynostosis, Delayed cranial suture closure, Frontal bo... |
OMIM:603116 |
| Grange Syndrome |
|
Recurrent fractures, Bicuspid aortic valve, Coronary artery stenosis, Renovascular hypertension, ... |
OMIM:602531 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Genu valgum, Patellar dislocation |
OMIM:614078 |
| Noonan Syndrome 3 |
|
Tricuspid valve prolapse, Atrial septal defect, Bruising susceptibility, Dolichocephaly, Pulmonic... |
OMIM:609942 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Knee flexion cont... |
OMIM:600175 |
| 3Mc Syndrome 1 |
|
Wide anterior fontanel, Atrial septal defect, Coronal craniosynostosis, Conjunctival telangiectas... |
OMIM:257920 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, Growth delay, Ascites |
ORPHA:2414 |
| Jackson-Weiss Syndrome |
|
Calcaneonavicular fusion, Midface retrusion, Craniosynostosis |
OMIM:123150 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Limitation of joint mobility, Atrial septal defect, Increased nuchal translucency, Resp... |
ORPHA:93274 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... |
ORPHA:1041 |
| Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
| Metaphyseal Acroscyphodysplasia |
|
Craniosynostosis, Platyspondyly, Biconcave vertebral bodies, Genu varum, Scoliosis, Frontal bossi... |
OMIM:250215 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:380 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Wide anterior fontanel, Bicuspid aortic valve, Atrial septal defect, Camptodactyly of finger, Sco... |
OMIM:607872 |
| Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Aortic valve stenosis, Recurrent upper respiratory tract infections, Platyspondyly, Sco... |
OMIM:253010 |
| Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Congenital hip dislocation, Pulmonary artery aneurysm, Osteolysis, Ao... |
ORPHA:286 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Kyphoscoliosis, Secundum atrial septal defect, Joint hypermobilit... |
ORPHA:1600 |
| Flynn-Aird Syndrome |
|
Kyphosis, Joint stiffness, Bone cyst, Scoliosis, Atherosclerosis |
ORPHA:2047 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial s... |
ORPHA:1120 |
| 9Q21.13 Microdeletion Syndrome |
|
Abnormal heart morphology, Scoliosis, Vertebral segmentation defect, Craniosynostosis |
ORPHA:531151 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Stroke, Hypertension, Coronary artery stenosis |
OMIM:615812 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Plagiocephaly, Atrial septal defect, Anterior plagiocephaly... |
OMIM:614749 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Brachycephaly, Craniosynostosis |
ORPHA:314575 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Joint contracture of the hand, Thyroid lymphangiectasia, Coronal craniosyno... |
OMIM:235510 |
| De Barsy Syndrome |
|
Prominent veins on trunk, Kyphoscoliosis, Recurrent sinopulmonary infections, Generalized joint l... |
ORPHA:2962 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... |
ORPHA:2041 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... |
OMIM:306955 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Congenital bilateral hip dislocation, Recurrent respiratory infections |
ORPHA:85288 |
| Hartsfield Syndrome |
|
Respiratory insufficiency, Craniosynostosis |
ORPHA:2117 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Mitral regurgitation, Scoliosis, Talipes valgus, V... |
OMIM:615879 |
| Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Craniosynostosis, Scoliosis, Frontal bossing, Turricephaly |
OMIM:613174 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Scoliosis, Abnormal form of the vertebral bodies, Craniosynostosis |
ORPHA:2645 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Trigonocephaly, Arthrogryposis multiplex congenita, Craniosynostosis |
OMIM:618265 |
| 19P13.12 Microdeletion Syndrome |
|
Kyphosis, Atrial septal defect, Craniosynostosis, Mitral regurgitation, Short neck, Scoliosis, Ar... |
ORPHA:254346 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Kyphosis, Dolichocephaly, Scoliosis, Aplasia/Hypoplasia of the lungs, Recurrent ... |
ORPHA:1548 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Secundum atrial septal defect, Camptodactyly of finger, Scoliosis, Bicoronal synostosis... |
OMIM:619951 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Craniosynostosis |
ORPHA:1528 |
| Gm1-Gangliosidosis, Type I |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Cherry red ... |
OMIM:230500 |
| Macrocephaly-Developmental Delay Syndrome |
|
Craniosynostosis, Palpebral edema, Frontal bossing, Recurrent pneumonia, Scaphocephaly |
ORPHA:397612 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Osteopenia, Platyspondyly, Radioulnar synostosis, Sagittal craniosyn... |
ORPHA:536471 |
| Gomez-Lopez-Hernandez Syndrome |
|
Wide anterior fontanel, Craniosynostosis, Wormian bones, Skull asymmetry, Brachycephaly, Midface ... |
OMIM:601853 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Multiple pterygia, Dolichocephaly, Aortic aneurysm, Camptodactyly ... |
ORPHA:2990 |
| Cranioectodermal Dysplasia 3 |
|
Peripheral pulmonary artery stenosis, Dolichocephaly, Frontal bossing, Sagittal craniosynostosis,... |
OMIM:614099 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Asthma, Atrial septal defect, Aortic valve stenosis, Dysplastic p... |
OMIM:601808 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Wide anterior fontanel, Kyphosis, Decreased calvarial ossification, Biconcav... |
OMIM:259420 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Antenatal intracerebral hemorrhage, Kyphoscoliosis, Knee dislocation, Subd... |
ORPHA:536545 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta, Sacral dimple, Atrial septal defect |
OMIM:615502 |
| Craniosynostosis 4 |
|
Pansynostosis, Coronal craniosynostosis, Metopic synostosis, Sagittal craniosynostosis, Bicoronal... |
OMIM:600775 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Short neck, Coarctation of aorta, Ventricular septal defect, Prolonged prothro... |
OMIM:616559 |
| Crouzon Syndrome |
|
Sleep apnea, Coronal craniosynostosis, Frontal bossing, Sagittal craniosynostosis, Abnormality of... |
OMIM:123500 |
| Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Distal joint laxity |
OMIM:616471 |
| Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Flexion contracture, Hyperextensibility of the finger joints, Ventricular s... |
OMIM:309520 |
| Pycnodysostosis |
|
Kyphosis, Spondylolisthesis, Increased bone mineral density, Coronal craniosynostosis, Delayed cr... |
ORPHA:763 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Atlantoaxial dislocation, Subcutaneous hemorrhage, Generalized joint laxity, Cran... |
ORPHA:2953 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Partial fusion of tarsals, Genu valgu... |
OMIM:305620 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... |
OMIM:178600 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Dolichocephaly, Intracrania... |
ORPHA:109 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Ascites, Pericardial effusion, Edema |
OMIM:608776 |
| Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Scoliosis, Coarctation of aorta, Fron... |
OMIM:301022 |
| Muenke Syndrome |
|
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion, Capitate-hamate fusion |
OMIM:602849 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Craniosynostosis, Osteopenia, Platyspondyly, Short neck, Thoracolumbar scoliosis, Skull asymmetry |
OMIM:616723 |
| Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Craniosynostosis, Decreased movement range in interphalangeal j... |
ORPHA:576 |
| Marshall-Smith Syndrome |
|
Bruising susceptibility, Reduced bone mineral density, Craniosynostosis, Scoliosis, Increased sus... |
ORPHA:561 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Thoracic aortic aneurysm, Elevated pulmonary artery pressure, Respiratory failure requiring assis... |
OMIM:619351 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, ... |
ORPHA:2114 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis |
OMIM:218670 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Short neck, Coarctation of aorta, Camptodactyly, Ventricular septal defect, De... |
OMIM:616145 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Craniosynostosis, Abnormal aortic valve morphology, Midface retrusion, Scol... |
ORPHA:261197 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Polyhydramnios, Arthrogryposis multiple... |
OMIM:618393 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... |
ORPHA:275766 |
| Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus |
OMIM:147770 |
| Marshall-Smith Syndrome |
|
Apnea, Airway obstruction, Craniosynostosis, Ventricular septal defect, Midface retrusion, Decrea... |
OMIM:602535 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Respiratory insufficiency, Platyspondyly, Scolios... |
ORPHA:2771 |
| Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Genu recurvatum, Osteopenia, Delayed cranial suture closure... |
ORPHA:90348 |
| Aymé-Gripp Syndrome |
|
Plagiocephaly, Craniosynostosis, Delayed cranial suture closure, Prominent metopic ridge, Scolios... |
ORPHA:1272 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Respiratory insufficiency, Hydrops fetali... |
ORPHA:90308 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Brachycephaly, Patent ductus arteriosus |
ORPHA:2095 |
| Shashi-Pena Syndrome |
|
Kyphosis, Atrial septal defect, Osteoporosis, Scoliosis |
OMIM:617190 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Mitral regurgitation, Congenital h... |
OMIM:300280 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... |
ORPHA:99125 |
| Aortic Arch Interruption |
|
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... |
ORPHA:2299 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Atrial septal defect, Flexion contracture, Coronal craniosynostosis, Camp... |
OMIM:207410 |
| Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Bone cyst, Aortic valve stenosis, Coarctation of aorta, Pulmonary arter... |
ORPHA:2396 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Fryns Syndrome |
|
Abnormal cardiac septum morphology, Short neck, Tetralogy of Fallot, Polyhydramnios, Abnormal aor... |
ORPHA:2059 |
| Transaldolase Deficiency |
|
Asthma, Wide anterior fontanel, Atrial septal defect, Short neck, Coarctation of aorta, Ventricul... |
OMIM:606003 |
| Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Sagittal craniosynostosis, Pate... |
OMIM:618027 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Respira... |
OMIM:601186 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
| Myofibrillar Myopathy 11 |
|
Coarctation of aorta, Reduced forced vital capacity |
OMIM:619178 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis |
OMIM:218550 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... |
OMIM:259440 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Vertebral segmentation defect, Bicuspid aortic valve, Atrial septal de... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Vertebral segmentation defect, Bicuspid aortic valve, Atrial septal de... |
ORPHA:352665 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Short ... |
ORPHA:251071 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Coarctation of aorta |
ORPHA:280195 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Distal Monosomy 10Q |
|
Lumbar hyperlordosis, Atrial septal defect, Craniosynostosis, Prominent metopic ridge, Spina bifi... |
ORPHA:96148 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
| Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Coarse metaphyseal trabecularization, Camptodactyly of finger, Scolios... |
ORPHA:2635 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Pedal edema, Arterial stenosis,... |
ORPHA:228116 |
| Larsen Syndrome |
|
Laryngotracheomalacia, Large joint dislocations, Vertebral segmentation defect, Accessory carpal ... |
ORPHA:503 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Tracheomalacia, Dolichocephaly, Craniosynostosis, Ao... |
ORPHA:96121 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Reduced vital capacity, Flexion contracture, Dolichocephaly, Respiratory insufficiency,... |
ORPHA:178148 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Flexion contracture, Craniosynostosis |
OMIM:619076 |
| Acrocraniofacial Dysostosis |
|
Abnormality of the vertebral column, Oxycephaly, Craniosynostosis |
OMIM:201050 |
| Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Craniosynostosis, Shallow acetabular fossae, Scoliosis, Carpal bone hypop... |
OMIM:252600 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Recurrent fractures, Apnea, Bruising susceptibility, Reduced... |
ORPHA:667 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Knee flexion contracture, Restrictive ventil... |
OMIM:615290 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Short neck, Knee flexion contracture, Limb joint contracture, Ankle flexion con... |
ORPHA:284417 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Plagiocephaly, Prominent metopic ridge, Scoliosis, Joint hypermobility, Hypoplastic aortic arch |
ORPHA:457284 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Oligohydramnios, Joint hypermobility, Craniosynostosis |
OMIM:619056 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Craniosynostosis |
OMIM:614732 |
| Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Wide anterior fontanel, Kyphosis, Atrial septal defect, Respiratory insufficienc... |
ORPHA:1860 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:300434 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Atrial septal defect, Craniosynostosis, Delayed cranial sutu... |
OMIM:620005 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Patent ductus arteriosus, Flexion contracture |
OMIM:618658 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sleep apnea, Atrial septal defect, Aortic valve stenosis, Camptodactyly, Sagittal craniosynostosi... |
ORPHA:459061 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bun... |
OMIM:115197 |
| Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Short neck, Ventricular septal defect, Dextrocardia, Flat occ... |
OMIM:614294 |
| Meier-Gorlin Syndrome 7 |
|
Wide anterior fontanel, Atrial septal defect, Craniosynostosis, Aplasia/Hypoplasia of the patella... |
OMIM:617063 |
| Mucolipidosis Ii Alpha/Beta |
|
Craniosynostosis, Osteopenia, Heart murmur, Hip subluxation, Ovoid vertebral bodies, Cardiomegaly... |
OMIM:252500 |
| Autosomal Recessive Omodysplasia |
|
Craniosynostosis, Frontal bossing, Pterygium, Increased nuchal translucency, Elbow dislocation |
ORPHA:93329 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Osteomyelitis, Increased bone mineral density, Craniosyn... |
OMIM:259700 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Frontal bossing, Scoliosis |
ORPHA:276630 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Hypoplastic left heart, Anomalous origin of left pulmonary artery from asce... |
ORPHA:141127 |
| Antley-Bixler Syndrome |
|
Recurrent fractures, Joint stiffness, Elbow ankylosis, Craniosynostosis, Delayed cranial suture c... |
ORPHA:83 |
| Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Craniosynostosis, Abnormal nasal mucus secretion, Chronic s... |
ORPHA:137914 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Hip dislocation, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Camptodactyly of fing... |
ORPHA:2311 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Brachycephaly, Calvarial skull defect, Coronal craniosynostosis, Frontal bossing, Oligohydramnios |
ORPHA:228390 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Short neck, Scoliosis, Ventricular septal defect, Mitral valve prolapse, Ascendi... |
ORPHA:444072 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Hypoplastic vertebral bodies, Plagiocephaly, Brachycephaly, Craniosynostosis |
ORPHA:2163 |
| Muenke Syndrome |
|
Carpal synostosis, Plagiocephaly, Coronal craniosynostosis, Tarsal synostosis, Brachycephaly |
ORPHA:53271 |
| Parenti-Mignot Neurodevelopmental Syndrome |
|
Frontal bossing, Craniosynostosis |
OMIM:619873 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
| Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Wormian bones, Tetralogy of Fallot, Coarctation of aorta, Ventricular septa... |
OMIM:617159 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones |
OMIM:618392 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Joint hypermobility, Pulmonary insufficiency, Pulmonary artery aneurysm, Arterial tortuosity, Pul... |
OMIM:614437 |
| 3C Syndrome |
|
Abnormality of the fontanelles or cranial sutures, Abnormal mitral valve morphology, Kyphosis, At... |
ORPHA:7 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Thickened calvaria, Scheuermann-like vertebr... |
OMIM:301900 |
| Bruck Syndrome 1 |
|
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli, Joint lax... |
OMIM:259450 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Central sleep apnea, Craniosynostosis, Restrictive cardiomyopathy, Osteopen... |
ORPHA:369837 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Craniosynostosis, Cervical instab... |
ORPHA:508533 |
| Metatropic Dysplasia |
|
Enlarged joints, Kyphosis, Kyphoscoliosis, Relatively short spine, Flexion contracture, Respirato... |
OMIM:156530 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Atrial septal defect, Craniosynostosis, Osteopenia, Pulmonary hemorrhage, Mitral regurgitation, C... |
ORPHA:363611 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Ventricular septal defect, Metopic synostosis, Patent ductus arteriosus, Co... |
OMIM:620024 |
| Hennekam Syndrome |
|
Arteriovenous malformation, Chylothorax, Craniosynostosis, Pulmonary lymphangiectasia, Camptodact... |
ORPHA:2136 |
| Distal Monosomy 15Q |
|
Mitral stenosis, Double outlet right ventricle with doubly committed ventricular septal defect an... |
ORPHA:1596 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Sleep apnea, Platyspondyly, Central apnea... |
OMIM:616482 |
| Fontaine Progeroid Syndrome |
|
Craniosynostosis, Platyspondyly, Pulmonary hypoplasia, Midface retrusion, Abnormal heart morpholo... |
OMIM:612289 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Pedal edema, Reduced... |
ORPHA:75565 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Plagiocephaly, Midface retrusion, Scoliosis |
OMIM:617768 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Stroke... |
ORPHA:75249 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Short neck, Pulmonary hypoplasia, Humeroradial synostosis, Oligohydramnios |
OMIM:251230 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tracheomalacia, Tachycardia, Tetr... |
OMIM:618280 |
| Shprintzen-Goldberg Syndrome |
|
Joint stiffness, Apnea, Craniosynostosis, Dolichocephaly, Osteopenia, Camptodactyly of finger, Mi... |
ORPHA:2462 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericard... |
OMIM:618775 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... |
OMIM:616564 |
| 3Q29 Microduplication Syndrome |
|
Craniosynostosis, Camptodactyly of toe, Short neck, Ventricular septal defect, Large fontanelles,... |
ORPHA:251038 |
| Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Sagittal craniosynostosis, Recurrent pneumonia, Joint hypermobility, Decreased n... |
OMIM:614378 |
| Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Double aortic arch, Tetralogy of Fallot, Pulmonary arter... |
OMIM:192430 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Increased laxity of fingers, Flexion contracture, Short neck, Scoliosi... |
ORPHA:75840 |
| Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Aortic valve stenosis, Flexion contracture, Pulmonary artery stenos... |
OMIM:208050 |
| Myofibrillar Myopathy 10 |
|
Kyphosis, Flexion contracture of finger, Left ventricular hypertrophy, Prolonged QTc interval, In... |
OMIM:619040 |
| Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Craniosynostosis, Neonatal asphyxia, Palpitations, Small anterior fontanelle, ... |
ORPHA:525731 |
| Pelizaeus-Merzbacher Disease |
|
Kyphosis, Joint stiffness, Arteriovenous malformation, Respiratory insufficiency, Scoliosis, Recu... |
ORPHA:702 |
| 22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Short neck, Ventricular septal defect, Gastrointestinal hemorrhage, Patellar d... |
ORPHA:567 |
| 1Q21.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Scoliosis, Frontal bossing, Patent ductus arteriosus, Interru... |
ORPHA:250989 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Brachycephaly, Beaking of vertebral bodies, Atrial septal defect, Craniosynostosis, Hyperextensib... |
OMIM:213980 |
| Congenital Enterovirus Infection |
|
Hydrops fetalis, Myocarditis, Polyhydramnios, Pericardial effusion, Pleural effusion, Fetal ascit... |
ORPHA:292 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Recurrent fractures, Hypophosphatemic rickets, Kyphoscoliosis, Osteopenia, Coarctation of aorta, ... |
OMIM:163200 |
| Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Wide anterior fontanel, Pulmonic stenosis, Short neck, Abnormal form of the vertebral b... |
ORPHA:3098 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:618237 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... |
ORPHA:3426 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion |
ORPHA:36412 |
| Kaposiform Lymphangiomatosis |
|
Bruising susceptibility, Abnormal bleeding, Fractures of the long bones, Epidural hemorrhage, Abn... |
ORPHA:464329 |
| Lateral Meningocele Syndrome |
|
Kyphosis, Sclerosis of skull base, Bicuspid aortic valve, Dolichocephaly, Short neck, Biconcave v... |
OMIM:130720 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Airway obstruction, Platyspondyly, Genu valgum, Abnormality of the curvature of the vertebral col... |
ORPHA:93360 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cubitus valgus, Joint hyperflexibility |
ORPHA:1875 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Short neck, Limitation of joint mobility, Craniosynostosis |
ORPHA:178303 |
| Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Pericardial effusion, Edema |
OMIM:617822 |
| Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Tracheomalacia, Craniosynostosis, Abnormality of the vertebral column, Scoliosis, Respiratory fai... |
ORPHA:412069 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Coronal craniosynostosis |
ORPHA:163976 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Joint stiffness, Atrial septal defect, Scoliosis, Arrhythmia, Tracheobronchomalacia, Patent foram... |
OMIM:619184 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Joint subluxation, Bruising susceptibility, Hyperextensibility of the finger joints, Sc... |
OMIM:617821 |
| Alport Syndrome |
|
Renal glomerular foam cells, Cough, Recurrent bronchitis, Aortic aneurysm, Dyspnea, Hypertension,... |
ORPHA:63 |
| 3Mc Syndrome |
|
Limited pronation/supination of forearm, Craniosynostosis, Scoliosis, Spina bifida occulta, Radio... |
ORPHA:293843 |
| Kawasaki Disease |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:2331 |
| Mucolipidosis Iii Gamma |
|
Joint stiffness, Kyphosis, Aortic valve stenosis, Short neck, Scoliosis, Hyperlordosis, Genu valg... |
OMIM:252605 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Increased nuchal translucency, Atrioventricular canal defe... |
OMIM:605275 |
| Saethre-Chotzen Syndrome |
|
Sleep apnea, Plagiocephaly, Craniosynostosis, Proximal radio-ulnar synostosis, Delayed cranial su... |
ORPHA:794 |
| Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Large elbow, Anterior beaking of lumbar vertebrae, Short neck, Platyspondyly, Osteoporo... |
OMIM:253000 |
| Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia, Craniosynostosis |
ORPHA:2203 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Short neck, Scoliosis, Arthrogryposis multiplex congenita, Respiratory failure, Respira... |
OMIM:611890 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Renal artery atherosclerosis, Abnormal cardiomyocyte morphology, Palpitations, A... |
ORPHA:565612 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Turricephaly, Craniosynostosis |
ORPHA:1496 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Coronal craniosynostosis |
ORPHA:163971 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Kyphosis, Bicuspid aortic valve, Joint dislocation, Atrial septal defect, Spondylolisthesis, Trac... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Kyphosis, Bicuspid aortic valve, Joint dislocation, Atrial septal defect, Spondylolisthesis, Trac... |
ORPHA:363958 |
| Aicardi-Goutieres Syndrome 9 |
|
Left ventricular hypertrophy, Edema, Pericarditis, Ascites, Intrauterine growth retardation, Peri... |
OMIM:619487 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hyperextensibility of the finger joints, Intracranial hemorrhage, Respirato... |
ORPHA:163979 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Coarctation of aorta, Tachypnea, Patent ductus arteriosus, Pulmonary arteri... |
OMIM:614857 |
| O'Donnell-Luria-Rodan Syndrome |
|
Dolichocephaly, Kyphosis |
OMIM:618512 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis |
OMIM:616943 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Kyphosis, Kyphoscoliosis, Joint contracture of the hand, Flexion con... |
ORPHA:536516 |
| Cranioectodermal Dysplasia 2 |
|
Plagiocephaly, Atrial septal defect, Craniosynostosis, Dolichocephaly, Left ventricular hypertrop... |
OMIM:613610 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
