| Fibromuscular Dysplasia, Arterial |
|
Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu... |
OMIM:135580 |
| Aorto-Ventricular Tunnel |
|
Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype... |
ORPHA:3400 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:613780 |
| Familial Aortic Dissection |
|
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... |
ORPHA:229 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... |
OMIM:615436 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending t... |
OMIM:132900 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... |
OMIM:611788 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... |
OMIM:618496 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... |
ORPHA:231160 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Aortic root aneurysm, Ascending tubular aorta aneurysm, Scoliosis, Spontane... |
OMIM:619825 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Cirrhosis, Tu... |
OMIM:619902 |
| Mass Syndrome |
|
Scoliosis, Ascending aortic dissection, Mitral valve prolapse, Aortic aneurysm |
OMIM:604308 |
| Moyamoya Disease 5 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm |
OMIM:614042 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... |
OMIM:617610 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... |
OMIM:615382 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, Thora... |
OMIM:616166 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... |
ORPHA:91387 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... |
OMIM:617168 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Bronchiectasis, Bruising susceptibility, Descending aortic dissection, Ascending aortic dissection |
OMIM:620080 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Scoliosis, Kyphosis, Pulmonic... |
OMIM:609008 |
| Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... |
ORPHA:449400 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... |
ORPHA:79 |
| Distal Duplication 14Q |
|
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:1705 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... |
OMIM:606217 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... |
ORPHA:1455 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... |
OMIM:614823 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Pedal e... |
ORPHA:199241 |
| Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Ascending tubular aorta aneurysm, Arterial tortuosity |
OMIM:132800 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Pulmonary Arteriovenous Malformation |
|
Ischemic stroke, Abnormal bleeding, Myocardial infarction, Bacterial endocarditis, Pleural empyem... |
ORPHA:2038 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus |
ORPHA:228190 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Transposition of the great arteries, Aortic root aneurysm, Scoliosis, Secundum atrial septal defe... |
OMIM:619910 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... |
OMIM:615779 |
| Aneurysm Of Sinus Of Valsalva |
|
Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Stroke, Dilatation of the... |
ORPHA:1054 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism, Peripheral arterial stenosis |
OMIM:134400 |
| Cap Myopathy |
|
Aortic root aneurysm, Sinus tachycardia, Reduced systolic function, Mitral valve prolapse, Thorac... |
ORPHA:171881 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... |
OMIM:614980 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... |
OMIM:618780 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus |
OMIM:604381 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Scoliosis, Atrial septal defect, Ventricular septal defect, Mitral regurgit... |
OMIM:301039 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... |
ORPHA:99094 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... |
ORPHA:860 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Aortic root aneurysm, Scoliosis, Mitral valve prolapse |
OMIM:129600 |
| Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Emphysema, Arterial tortuosity, Spondylolisthesis, Aortic root aneurysm, Ascending ... |
OMIM:614816 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Myocardial sarc... |
OMIM:612422 |
| Aorta Coarctation |
|
Congestive heart failure, Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardio... |
ORPHA:1457 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Aortic valve calcificat... |
ORPHA:402075 |
| Aa Amyloidosis |
|
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... |
ORPHA:85445 |
| Periventricular Nodular Heterotopia |
|
Abnormal bleeding, Aortic regurgitation, Aortic aneurysm, Abnormal heart valve morphology, Scolio... |
ORPHA:98892 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Coarctation of aorta, Patent foramen ovale |
OMIM:611363 |
| Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... |
ORPHA:2248 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Aortic dissection, E... |
OMIM:175050 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... |
ORPHA:99050 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... |
ORPHA:1209 |
| Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... |
OMIM:615415 |
| Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... |
ORPHA:3092 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... |
OMIM:604387 |
| Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Supraventricular tachycardia with an accessory connection mediated pathway, Aorti... |
ORPHA:404443 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... |
OMIM:613854 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Aortic root aneurysm, Facet joint arthrosis, Short neck, Mitral ... |
OMIM:618000 |
| Contractural Arachnodactyly, Congenital |
|
Kyphoscoliosis, Congenital kyphoscoliosis, Aortic root aneurysm, Scoliosis, Mitral valve prolapse... |
OMIM:121050 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnormal mi... |
ORPHA:1354 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... |
OMIM:231060 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Repeated pneumothoraces, Aortic root aneurysm, Scoliosis, Kyphosis, Coarctation of aorta, Atrial ... |
OMIM:617602 |
| Giant Cell Arteritis |
|
Recurrent pharyngitis, Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmo... |
ORPHA:397 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... |
OMIM:187300 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Pulmonary insufficiency, Aortic regurgitation, Aortic root aneurysm, Abnormal hea... |
ORPHA:230851 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Recurrent lower respiratory tract infections, Aortic root aneurysm, Recurrent sinusitis, Mitral v... |
OMIM:130000 |
| Arterial Tortuosity Syndrome |
|
Abnormal carotid artery morphology, Myocarditis, Congestive heart failure, Vascular dilatation, A... |
ORPHA:3342 |
| Arterial Tortuosity Syndrome |
|
Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Scoliosis, Hypertension, Ventricular... |
OMIM:208050 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... |
OMIM:618300 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... |
OMIM:208540 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax |
OMIM:262850 |
| Smooth Muscle Dysfunction Syndrome |
|
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... |
OMIM:613834 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... |
OMIM:614779 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Coarctation of aorta, Bilateral lung agenesis, Patent ductus ... |
OMIM:601612 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Emphysema, Coronary artery atherosclerosis, Aortic root aneurysm, Hyper... |
ORPHA:363618 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Abnormal bleeding, Vascular dilatation, Aortic aneurysm, Thoracic kypho... |
ORPHA:1900 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Hemothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumo... |
OMIM:130050 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... |
OMIM:613751 |
| Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Cervical spine... |
OMIM:300989 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal aortic valve morphology, Vascular dilatation, Vasculiti... |
ORPHA:3287 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... |
OMIM:263200 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... |
OMIM:617205 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Tr... |
OMIM:620067 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Scoliosis, Hypertension, Mitral valve prolapse |
ORPHA:449291 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
| Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Spondylolisth... |
OMIM:610168 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Polyhydramnios, Aortic root aneurysm, Aortopulmonary window, Pulmonary arterial hypertension, Pul... |
OMIM:620025 |
| Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Congenital Aortic Valve Stenosis |
|
Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c... |
ORPHA:3093 |
| Loeys-Dietz Syndrome |
|
Abnormal bleeding, Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Scoliosis, Cardiac ... |
ORPHA:60030 |
| Aneurysm-Osteoarthritis Syndrome |
|
Dilatation of the cerebral artery, Vascular dilatation, Patent ductus arteriosus, Arterial tortuo... |
ORPHA:284984 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventr... |
OMIM:616652 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Loeys-Dietz Syndrome 3 |
|
Arterial tortuosity, Spondylolisthesis, Ventricular hypertrophy, Tortuous cerebral arteries, Aort... |
OMIM:613795 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Beaking of vertebral bodies, Atelectasis, Congenital kyphoscoliosis, Repeated pne... |
ORPHA:536467 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... |
OMIM:602088 |
| Immunodeficiency 23 |
|
Aortic root aneurysm, Scoliosis, Vasculitis in the skin, Bronchiectasis, Recurrent respiratory in... |
OMIM:615816 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Aortic dissection, Pulmonic stenosis, Bruising susceptibility, Varicose veins |
OMIM:618343 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphoscoliosis, Sacral dimple, Aortic root aneurysm, Prominent veins on trunk, Kyphosis, Pericard... |
ORPHA:536532 |
| Loeys-Dietz Syndrome 5 |
|
Kyphoscoliosis, Spondylolisthesis, Aortic root aneurysm, Patent foramen ovale, Cervical spine ins... |
OMIM:615582 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Hypertension, Kyphosis, Mitral valve prolapse, Bruising susceptibility, Oli... |
OMIM:616914 |
| Marfan Syndrome |
|
Spondylolisthesis, Aortic tortuosity, Kyphosis, Arterial dissection, Mitral valve prolapse, Aorti... |
ORPHA:558 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm, Cervical spine instability, Platyspondyly, Kyphoscoliosis |
OMIM:615349 |
| Sandhoff Disease |
|
Congestive heart failure, Recurrent respiratory infections, Cherry red spot of the macula, Kyphosis |
ORPHA:796 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... |
OMIM:616749 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... |
OMIM:601927 |
| Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Abnormal vertebral morphology, Preductal coarctation of the aort... |
OMIM:215045 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| X Small Rings |
|
Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve, Short neck, Ventricular septal defe... |
ORPHA:96201 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Spondylolisthesis, Aortic root aneurysm, Scoliosis, Kyphosis, Pulmonic stenosis, P... |
OMIM:610443 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... |
ORPHA:99827 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Right bundle... |
OMIM:617506 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
| Phaver Syndrome |
|
Butterfly vertebrae, Hypoplastic aortic arch, Abnormal form of the vertebral bodies, Pulmonary ar... |
ORPHA:2876 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Hypertension, Dehydration, Coarctation of aorta, Recurrent pneumonia, Recurrent b... |
OMIM:616069 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Cocaine Intoxication |
|
Pneumothorax, Ischemic stroke, Pulmonary edema, Prolonged QT interval, Supraventricular arrhythmi... |
ORPHA:90068 |
| Scimitar Syndrome |
|
Bronchogenic cyst, Pulmonary sequestration, Left-to-right shunt, Abnormal heart morphology, Inter... |
ORPHA:185 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... |
OMIM:619702 |
| Tetrasomy 15Q26 |
|
Kyphoscoliosis, Atrial septal defect, Hypoplastic aortic arch, Patent ductus arteriosus |
OMIM:614846 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Polyhydramnios, Abnormal tricuspid valve morphology, Abnormal aortic morphology,... |
ORPHA:3405 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of th... |
ORPHA:1166 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Vascular ring, Thoracic scoliosis, Atrial septal defect, Ventricular septal defect, Mit... |
OMIM:603387 |
| Marfan Syndrome |
|
Pneumothorax, Congestive heart failure, Tricuspid valve prolapse, Kyphoscoliosis, Emphysema, Aort... |
OMIM:154700 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... |
OMIM:620642 |
| Absence Of The Pulmonary Artery |
|
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... |
ORPHA:980 |
| 16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... |
ORPHA:261243 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Nephrosialidosis |
|
Pericardial effusion, Bone-marrow foam cells, Ascites |
OMIM:256150 |
| Renal Dysplasia |
|
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... |
ORPHA:93108 |
| Phace Syndrome |
|
Abnormal carotid artery morphology, Aortic root aneurysm, Coarctation of aorta, Abnormal heart mo... |
ORPHA:42775 |
| Neonatal Marfan Syndrome |
|
Tricuspid valve prolapse, Emphysema, Aortic root aneurysm, Abnormal cardiac ventricle morphology,... |
ORPHA:284979 |
| Conotruncal Heart Malformations |
|
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... |
OMIM:217095 |
| Partial Atrioventricular Septal Defect |
|
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... |
ORPHA:1330 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology |
ORPHA:1110 |
| Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
| Congenital Contractural Arachnodactyly |
|
Scoliosis, Congenital kyphoscoliosis, Mitral valve prolapse, Aortic aneurysm |
ORPHA:115 |
| Truncus Arteriosus |
|
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... |
ORPHA:3384 |
| Fragile X Syndrome |
|
Scoliosis, Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Platyspondyly, Cardiomegaly, Aortic root aneurysm, Patent foramen ovale, Scoliosis, Mitral valve ... |
OMIM:245600 |
| Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Foam cells, Scoliosis, Kyphosis, Cherry red spot of the mac... |
OMIM:230650 |
| Transaldolase Deficiency |
|
Hydrops fetalis, Coarctation of aorta, Edema, Atrial septal defect, Biventricular hypertrophy, Te... |
ORPHA:101028 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Pulmonary artery aneurysm, Emphysema, Arterial tortuosity, Bradycardia, ... |
OMIM:614437 |
| Rin2 Syndrome |
|
Bruising susceptibility, Scoliosis, Upper eyelid edema, Aortic aneurysm |
ORPHA:217335 |
| Generalized Arterial Calcification Of Infancy |
|
Calcification of the aorta, Hypertension, Ventricular hypertrophy, Ascites, Abnormal retinal arte... |
ORPHA:51608 |
| You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Coarctation of aorta, Vascular ring, Double aortic arch |
OMIM:616954 |
| Loeys-Dietz Syndrome 1 |
|
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... |
OMIM:609192 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... |
ORPHA:2306 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Aortic root aneurysm, Ventricular hypertrophy, Increased nuchal translucency, Pulmonic stenosis, ... |
OMIM:620654 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Short neck, Ventricular s... |
ORPHA:2516 |
| Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Patent foramen ovale, Vertebral segmentation defect, Coarctation of aorta, ... |
ORPHA:2745 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Scoliosis, Abnormal aortic morphol... |
ORPHA:392 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... |
OMIM:177850 |
| Loeys-Dietz Syndrome 6 |
|
Arterial tortuosity, Vertebral artery aneurysm, Intervertebral disk degeneration, Scoliosis, Vent... |
OMIM:619656 |
| Fliedner-Zweier Syndrome |
|
Hypoplastic aortic arch, Scoliosis, Kyphosis, Bicuspid aortic valve, Ventricular septal defect |
OMIM:620511 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... |
OMIM:620294 |
| 22Q11.2 Duplication Syndrome |
|
Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Tetralogy of Fallot, Ven... |
ORPHA:1727 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Systolic heart... |
OMIM:617478 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Coarctatio... |
OMIM:610338 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Short neck, Hypoplastic left heart, Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:2001 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, M... |
OMIM:608836 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Zimmermann-Laband Syndrome 1 |
|
Spina bifida occulta, Aortic root aneurysm, Scoliosis, Cardiomyopathy, Aortic arch aneurysm, Pate... |
OMIM:135500 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... |
OMIM:306955 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... |
OMIM:619657 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... |
OMIM:300845 |
| Cockayne Syndrome Type 3 |
|
Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke... |
ORPHA:90324 |
| Phace Association |
|
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... |
OMIM:606519 |
| Multiple Osteochondromas |
|
Pneumothorax, Pseudoaneurysm, Hemothorax, Neuropathic spinal arthropathy |
ORPHA:321 |
| Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly |
ORPHA:615 |
| Cardiomyopathy, Dilated, 1S |
|
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... |
OMIM:613426 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Atrial septal defect |
OMIM:618891 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Vertebral compression fracture, Aortic ane... |
ORPHA:666 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy |
OMIM:300718 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... |
OMIM:600649 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Elevated circulating hepa... |
OMIM:276700 |
| Alkaptonuria |
|
Intervertebral disk degeneration, Aortic aneurysm, Kyphosis, Mitral valve calcification, Aortic v... |
OMIM:203500 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Coarctation of aorta, Polyhydramnios, Abnormal aortic morphology |
ORPHA:1923 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Aortic root aneurysm, Patent foramen ovale, Pulmonary arterial hypertension, Increased nuchal tra... |
ORPHA:280633 |
| 20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac ventri... |
ORPHA:261311 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Viss Syndrome |
|
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... |
OMIM:619472 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... |
OMIM:314390 |
| Weill-Marchesani Syndrome 2 |
|
Congestive heart failure, Scoliosis, Pulmonic stenosis, Aortic valve stenosis, Ascending aortic d... |
OMIM:608328 |
| Nephronophthisis 13 |
|
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... |
OMIM:614377 |
| Noonan Syndrome 9 |
|
Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta, Short neck, Ventricular sept... |
OMIM:616559 |
| Au-Kline Syndrome |
|
Sacral dimple, Aortic root aneurysm, Hypertension, Vertebral segmentation defect, Thoracolumbar s... |
OMIM:616580 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Aortic aneurysm, Multiple muscular ventricular septal defects, Pericardial effusi... |
OMIM:620070 |
| Congenital Heart Block |
|
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... |
ORPHA:60041 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Osteogenesis Imperfecta, Type I |
|
Bruising susceptibility, Biconcave flattened vertebrae, Mitral valve prolapse, Aortic aneurysm |
OMIM:166200 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... |
ORPHA:2326 |
| Classical Ehlers-Danlos Syndrome |
|
Tricuspid valve prolapse, Blepharochalasis, Orthostatic hypotension, Aortic root aneurysm, Arteri... |
ORPHA:287 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Vertebra... |
ORPHA:1120 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy |
ORPHA:85447 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Transposition of the great arteries, Partial anomalous pulmonary venous re... |
OMIM:608978 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Partial anomalous pulmonary venous return, Atrioventricular canal defect, Double inlet left ventr... |
OMIM:270100 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... |
ORPHA:40 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:620135 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased... |
OMIM:232200 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomeruloscleros... |
OMIM:617303 |
| Distal Triplication 15Q |
|
Hypoplastic aortic arch, Scoliosis, Kyphosis, Abnormal heart morphology, Pulmonary hypoplasia, Pa... |
ORPHA:314588 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Aortic ... |
ORPHA:444077 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Partial anomalous pul... |
OMIM:618280 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased... |
OMIM:232220 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Aortic regurgitation, Ascending tubular aorta aneurysm, Oligohydramnios, Vascular tort... |
OMIM:219100 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
| Cardiac Valvular Dysplasia 1 |
|
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... |
OMIM:212093 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Aortic aneurysm, Patent foramen ovale, Abnormal heart morphology, Persiste... |
ORPHA:477817 |
| Alg3-Cdg |
|
Pulmonary hypoplasia, Cardiomyopathy, Coarctation of the descending aortic arch |
ORPHA:79321 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... |
OMIM:178600 |
| Diabetic Embryopathy |
|
Transposition of the great arteries, Abnormal sacrum morphology, Vertebral segmentation defect, A... |
ORPHA:1926 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Coarctation of aorta, Sacral dimple, Patent ductus arteriosus |
OMIM:615502 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... |
OMIM:130650 |
| Cardiac Diverticulum |
|
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Arrhyt... |
ORPHA:1686 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Scoliosis, Aortopulmonary collateral arteries |
ORPHA:293181 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula... |
ORPHA:216694 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormal cerebral vascular morphology, Purpura, Pulmonary embolism, Venous insufficiency |
ORPHA:745 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... |
OMIM:608022 |
| Temtamy Syndrome |
|
Aortic regurgitation, Aortic aneurysm |
OMIM:218340 |
| Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Spinal canal stenosis, Aortic aneurysm |
ORPHA:35125 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... |
ORPHA:2041 |
| Grange Syndrome |
|
Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension... |
OMIM:602531 |
| Right Atrial Isomerism |
|
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... |
OMIM:208530 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... |
ORPHA:731 |
| Congenital Tracheomalacia |
|
Pneumothorax, Partial anomalous pulmonary venous return, Emphysema, Cardiomegaly, Single ventricl... |
ORPHA:95430 |
| Septopreoptic Holoprosencephaly |
|
Coarctation of aorta, Abnormal vertebral morphology |
ORPHA:280195 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... |
OMIM:115197 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... |
ORPHA:261183 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Atrial septal defect, Facial edema, Chylothorax, Lymphedema, Pleural effusion, A... |
OMIM:617300 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Decreased carnitine level ... |
OMIM:212140 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cystic renal d... |
OMIM:200995 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary ... |
OMIM:265380 |
| Brachyolmia Type 1, Hobaek Type |
|
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... |
OMIM:271530 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Scoliosis, Hypertension, Lymphedema, Aortic arch aneurysm, Kyphosis, Arter... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Prolonged QT interval, Scoliosis, Hypertension, Lymphedema, Aortic arch aneurysm, Kyphosis, Arter... |
ORPHA:99228 |
| Monosomy X |
|
Prolonged QT interval, Scoliosis, Hypertension, Lymphedema, Aortic arch aneurysm, Kyphosis, Arter... |
ORPHA:99226 |
| Turner Syndrome |
|
Prolonged QT interval, Scoliosis, Hypertension, Lymphedema, Aortic arch aneurysm, Kyphosis, Arter... |
ORPHA:881 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Ventricular septal defect, Recurrent respiratory infections |
OMIM:620210 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Pulmonary hypoplasia, Patent ductus arte... |
OMIM:619351 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Arrhythmia |
OMIM:618453 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly |
ORPHA:858 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
| Klippel-Trénaunay Syndrome |
|
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... |
ORPHA:90308 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Venous insufficiency, Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Pu... |
ORPHA:743 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis |
OMIM:615812 |
| Fryns Syndrome |
|
Polyhydramnios, Abnormal aortic arch morphology, Abnormal aortic morphology, Pulmonary hypoplasia... |
ORPHA:2059 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:619064 |
| Macs Syndrome |
|
Palpebral edema, Dilation of Virchow-Robin spaces, Aortic aneurysm, Scoliosis, Bruising susceptib... |
OMIM:613075 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
| Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Bilateral lung agenesis, Hypoplastic left atrium, ... |
OMIM:601186 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Aortic valve stenosis, Lower eyel... |
ORPHA:363705 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Pulmonary arterial hypertension, Arterial stenosis, Pulmon... |
ORPHA:228116 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Aortic root aneurysm, Ascending tubular aorta aneurysm, Scoliosis, Arterial... |
ORPHA:285 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Patent ductus arteriosus |
OMIM:618658 |
| Lateral Meningocele Syndrome |
|
Aortic aneurysm, Scoliosis, Kyphosis, Biconcave vertebral bodies, Patent ductus arteriosus, Bicus... |
OMIM:130720 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f... |
OMIM:619343 |
| Vascular Ehlers-Danlos Syndrome |
|
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous... |
ORPHA:286 |
| Alagille Syndrome 2 |
|
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Pulmonic s... |
OMIM:610205 |
| Monosomy 18Q |
|
Kyphoscoliosis, Congestive heart failure, Aortic aneurysm, Pulmonary valve defects, Dysplastic pu... |
ORPHA:1600 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... |
ORPHA:2299 |
| Flynn-Aird Syndrome |
|
Scoliosis, Atherosclerosis, Kyphosis |
ORPHA:2047 |
| Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Peripheral edema, Pulmonary edema, Left atrial enlargement, Atrial fibrillation, Stroke, Supraven... |
ORPHA:75249 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Recurrent respiratory infections, Kyphosis |
ORPHA:85288 |
| Igg4-Related Kidney Disease |
|
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... |
ORPHA:449395 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ren... |
OMIM:255120 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... |
OMIM:192430 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Abnormal spleen morphology, Pericardial effusion, Hepatosplenomegaly, Splenomega... |
ORPHA:464329 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Polyhydramnios, Ventricular septal defect |
OMIM:616920 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Left ventricular outflow tract obstruction, Vasculitis, Scoliosis, Hyperlordosis, Tr... |
ORPHA:365 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr... |
OMIM:201475 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonar... |
OMIM:106700 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Pro... |
OMIM:256550 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... |
ORPHA:99125 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... |
OMIM:252920 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
| Otopalatodigital Syndrome, Type Ii |
|
Kyphoscoliosis, Spondylolysis, Dilatation of the sinus of Valsalva, Platyspondyly, Short neck, At... |
OMIM:304120 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... |
OMIM:235200 |
| Chromosome 18Q Deletion Syndrome |
|
Congestive heart failure, Atrial septal defect, Dysplastic pulmonary valve, Ascending tubular aor... |
OMIM:601808 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Elevated pulmonary artery pressure, Congestive heart failure, Abnormal jugular vein morphology, P... |
ORPHA:275766 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Prolonged QRS complex, Cardio... |
ORPHA:75565 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Thanatophoric Dysplasia |
|
Polyhydramnios, Abnormal sacroiliac joint morphology, Kyphosis, Increased nuchal translucency, Pu... |
ORPHA:2655 |
| Alg9-Cdg |
|
Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal left ventricul... |
ORPHA:79328 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Spinal rigidity, Kyphosis |
OMIM:618323 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Congestive heart failure, Hydrops fetalis, Abnormal heart valve morp... |
OMIM:230500 |
| Double Outlet Right Ventricle |
|
Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aort... |
ORPHA:3426 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Kyphoscoliosis, Right aortic arch, Scoliosis, Kyphosis, Abnormal heart morphology, Bicuspid aorti... |
OMIM:301111 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, Abnormal ... |
ORPHA:505248 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... |
ORPHA:284169 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery atherosclerosis, Angina pectoris, Renal artery atherosclerosis, Low-output conges... |
ORPHA:565612 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal lung lobation, Atrial septal defect, Aortic root aneurysm, Noncompaction cardiomyopathy,... |
OMIM:607872 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Scoliosis, Spinal rigidity, Hyperlordosis, Kyphosis |
OMIM:617404 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen... |
ORPHA:42 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Thanatophoric Dysplasia Type 2 |
|
Polyhydramnios, Kyphosis, Increased nuchal translucency, Patent ductus arteriosus, Platyspondyly,... |
ORPHA:93274 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Scoliosis, Lymphedema, Intracranial... |
ORPHA:109 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma |
OMIM:253250 |
| Meacham Syndrome |
|
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se... |
ORPHA:3097 |
| Congenital Tracheal Stenosis |
|
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Polyhydra... |
ORPHA:141127 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria |
ORPHA:251004 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... |
OMIM:300280 |
| De Barsy Syndrome |
|
Kyphoscoliosis, Hypoplastic aortic arch, Prominent veins on trunk, Recurrent sinopulmonary infect... |
ORPHA:2962 |
| Sickle Cell Disease |
|
Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly... |
OMIM:603903 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
| 8P23.1 Microdeletion Syndrome |
|
Transposition of the great arteries, Atrioventricular canal defect, Abnormal aortic morphology, H... |
ORPHA:251071 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Scoliosis, Pleural effusion, Ver... |
ORPHA:453499 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Platyspondyly, Lymphedema, Pericardial effusion, Ovoid vertebral bodies, C... |
OMIM:239850 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Coarctation of aorta, Pulmonary arterial hypertension, Patent ductus arteri... |
OMIM:614857 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Scoliosis, Kyphosis, Patent ductus arteriosus |
OMIM:619797 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Coronary artery fistula, Short neck, Ventricular septal defect, Abnormal cardiac se... |
OMIM:614294 |
| Alkaptonuria |
|
Intervertebral disk calcification, Aortic aneurysm, Abnormal heart valve morphology, Scoliosis, H... |
ORPHA:56 |
| Noonan Syndrome 10 |
|
Scoliosis, Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pulmonic... |
OMIM:616564 |
| Denys-Drash Syndrome |
|
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... |
OMIM:194080 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Scoliosis, Increased nuchal translucency, Coarctation of aorta, Abnormal he... |
OMIM:618494 |
| Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis |
OMIM:616471 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis |
OMIM:300434 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... |
ORPHA:228308 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:600175 |
| Distal Deletion 15Q |
|
Abnormal aortic arch morphology, Coarctation of aorta, Mitral stenosis, Double outlet right ventr... |
ORPHA:1596 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, Co... |
OMIM:600987 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Scoliosis, Kyphosis, Hypertrophic cardi... |
OMIM:618234 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Increased hepatic glycogen c... |
ORPHA:79259 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Congenital kyphoscoliosis, Dextrocardia, Aortic aneurysm, Scoliosis, Atlantoaxial... |
ORPHA:536545 |
| Larsen Syndrome |
|
Beaking of vertebral bodies, Spondylolysis, Spina bifida occulta, Aortic aneurysm, Scoliosis, Atr... |
OMIM:150250 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Pneumothorax, Congestive heart failure, Atrial septal defect, Kyphoscoliosis, Ascending tubular a... |
OMIM:617403 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time, Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
| Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Recurrent bronchitis, Hypertension, Abnormal aortic... |
ORPHA:63 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:616756 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Short neck, Atrial septal d... |
OMIM:606003 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Recurrent respiratory infections, Kyphosis, Aplasia/Hypoplasia of the lungs |
ORPHA:1548 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... |
OMIM:600001 |
| Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Pulmonary arterial... |
ORPHA:2396 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
| Cerebellar-Facial-Dental Syndrome |
|
Scoliosis, Ascending tubular aorta aneurysm, Mitral valve prolapse, Short neck, Ventricular septa... |
ORPHA:444072 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Abnormal aortic valve morphology, Spina bifida occulta, Aortic aneurysm, Scoliosis, Vertebral seg... |
ORPHA:2990 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ... |
OMIM:617713 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Hyperlordosis, Kyphosis, Aortic valve stenosis, Ovoid vertebral bodies, Hypoplasia of ... |
OMIM:253010 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Hypertrophic cardiomyopathy |
OMIM:618237 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... |
OMIM:614921 |
| Seckel Syndrome 10 |
|
Congestive heart failure, Hypertension, Ventricular hypertrophy, Abdominal aortic aneurysm |
OMIM:617253 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Polyhydramnios, Kyphosis |
OMIM:618393 |
| Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Kyphosis,... |
OMIM:153400 |
| 1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Scoliosis, Abnormal cardiac septum morphology, Patent ductus arteriosus |
ORPHA:250989 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect, Kyphosis, Patent ductus arteriosus |
OMIM:619909 |
| Pelizaeus-Merzbacher Disease |
|
Scoliosis, Recurrent respiratory infections, Arteriovenous malformation, Kyphosis |
ORPHA:702 |
| Fanconi Anemia, Complementation Group B |
|
Abnormal lung lobation, Abnormal vertebral morphology, Coarctation of aorta, Patent ductus arteri... |
OMIM:300514 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis |
ORPHA:99931 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Long-Olsen-Distelmaier Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva... |
OMIM:620609 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Polyhydramnios, Spina bifida occulta, Scoliosis, Kyphosis, Subdural hemorrhage |
OMIM:618291 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... |
ORPHA:116 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... |
OMIM:252500 |
| 3C Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal tricuspid valve morphology, Scolios... |
ORPHA:7 |
| H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Micropenis, Hepatosplenomegaly |
ORPHA:168569 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... |
ORPHA:2255 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... |
ORPHA:2311 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis |
OMIM:301900 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Aortic aneurysm, Truncus arteriosus, Hype... |
ORPHA:261330 |
| Perlman Syndrome |
|
Interrupted aortic arch, Polyhydramnios, Edema, Ascites |
OMIM:267000 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis |
ORPHA:276630 |
| Autosomal Dominant Cutis Laxa |
|
Congestive heart failure, Emphysema, Aortic regurgitation, Aortic aneurysm, Scoliosis, Bronchioli... |
ORPHA:90348 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis |
OMIM:303350 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep... |
ORPHA:391641 |
| Gaucher Disease, Type Ii |
|
Recurrent aspiration pneumonia, Bronchiolitis, Double aortic arch |
OMIM:230900 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Left ventri... |
ORPHA:57777 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:620024 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Abnormal form of the vertebral bodies, Hypertension, Coarctation of aorta,... |
ORPHA:371428 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
| Fucosidosis |
|
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Abnormal right ventricle morphology, Ventricular septal defect, Bifid ureter, Mi... |
ORPHA:500095 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... |
OMIM:620066 |
| Hydrops Fetalis |
|
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar... |
ORPHA:1041 |
| Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Abnormal sacroiliac joint morphology, Kyphosis, Increased nuchal translucency, Pa... |
ORPHA:1860 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement |
OMIM:614473 |
| Ogden Syndrome |
|
Left atrial enlargement, Bicuspid aortic valve, Enlarged kidney, Jaundice, Macrovesicular hepatic... |
OMIM:300855 |
| Tangier Disease |
|
Carotid artery stenosis, Coronary artery stenosis, Left ventricular hypertrophy, Accelerated athe... |
ORPHA:31150 |
| Cdkl5-Deficiency Disorder |
|
Scoliosis, Kyphosis |
ORPHA:505652 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Atrial septal defect, Gastrointestinal hemorrhage, Corneal neovasculariza... |
ORPHA:567 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Scoliosis, Hypoplastic aortic arch |
ORPHA:457284 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per... |
OMIM:618775 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Abnormal vertebral morphology, Congenital kyphoscoli... |
ORPHA:536471 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:615290 |
| Kawasaki Disease |
|
Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Recurrent phar... |
ORPHA:2331 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
C1-C2 vertebral abnormality, Scoliosis, Mitral valve prolapse, Aortic aneurysm |
OMIM:182212 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos... |
ORPHA:2635 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A... |
OMIM:600460 |
| Emanuel Syndrome |
|
Atrial septal defect, Sacral dimple, Scoliosis, Truncus arteriosus, Kyphosis, Pulmonic stenosis, ... |
OMIM:609029 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... |
ORPHA:85451 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus |
OMIM:612651 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Scoliosis, Atrial septal defect, Abnormal heart morphology, Kyphosis |
ORPHA:352490 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Interrupted aortic arch, Intracranial hemorrhage, Heart murmur, Atrial ... |
ORPHA:163979 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta... |
ORPHA:465508 |
| Mosaic Trisomy 16 |
|
Atrial septal defect, Abnormality of the cervical spine, Abnormal lung morphology, Coarctation of... |
ORPHA:1708 |
| Trisomy 13 |
|
Abnormal lung lobation, Hydrops fetalis, Scoliosis, Kyphosis, Patent ductus arteriosus, Atrial se... |
ORPHA:3378 |
| Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Emphysema, Abnormal heart valve morphology, Pleural effusion, Ascites, A... |
ORPHA:36412 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Thoracolumbar scoliosis, Kyphosis |
OMIM:313420 |
| Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, At... |
OMIM:617159 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
| Sialidosis Type 1 |
|
Scoliosis, Cherry red spot of the macula, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
| Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Fused cervical vertebrae, Hypoplastic aortic arch, Patent for... |
OMIM:157800 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2429 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Spina bifida occulta, Scoliosis, Hyperlordosis, Aortic valve stenosis, Coarctation of aorta |
ORPHA:2780 |
| Leprechaunism |
|
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal... |
ORPHA:508 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Scoliosis, Kyphosis |
OMIM:611890 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
OMIM:266500 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Bruising susceptibility, Scoliosis, Kyphosis |
OMIM:130060 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:300712 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Kyphosis, Arrhythmia, Dilated cardiomyopathy, Neuropathic spinal arthropathy |
OMIM:615084 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis |
OMIM:618773 |
| Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Abnormal heart valve morphology, Scoliosis... |
OMIM:253000 |
| Alg1-Cdg |
|
Scoliosis, Abnormal heart morphology, Cardiomyopathy, Kyphosis |
ORPHA:79327 |
| Shashi-Pena Syndrome |
|
Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis, Patent du... |
OMIM:617190 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval, Kyphosis, Left ventricular hypertrophy |
OMIM:619040 |
| Gm1 Gangliosidosis |
|
Congestive heart failure, Hydrops fetalis, Abnormal form of the vertebral bodies, Scoliosis, Hype... |
ORPHA:354 |
| Ck Syndrome |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:300831 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pulmonary embolism, Gastrointestinal hemorrhage, Arteriovenous malformation, Scoliosis, Hypertens... |
ORPHA:394 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Patent foramen ovale, Hypertrophic cardiomyopathy, Coarctation of aorta,... |
ORPHA:17 |
| Homozygous Familial Hypercholesterolemia |
|
Calcification of the aorta, Premature arteriosclerosis, Abnormal left ventricular function, Prema... |
ORPHA:391665 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect... |
OMIM:616897 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Kyphoscoliosis, Coarctation of aorta |
OMIM:163200 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis |
ORPHA:2598 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Scoliosis, Membranous subvalvular aortic stenosis, Kyphosis, Arrhythmia, Short neck, Subvalvular ... |
ORPHA:3191 |
| Sialidosis Type 2 |
|
Kyphosis, Hydrops fetalis, Ascites, Pedal edema |
ORPHA:87876 |
| Sandhoff Disease |
|
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... |
OMIM:268800 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:85317 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Aortic aneurysm, Hemivertebrae, Aortic valve stenosis, Patent ductus arteriosus, S... |
ORPHA:96121 |
| Timothy Syndrome |
|
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601005 |
| Aicardi-Goutières Syndrome |
|
Calcification of the aorta, Moyamoya phenomenon, Aortic aneurysm, Scoliosis, Hypertrophic cardiom... |
ORPHA:51 |
| Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis |
OMIM:617768 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Atrial septal defect, Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Aortic an... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Atrial septal defect, Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Aortic an... |
ORPHA:363958 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Kyphosis, Arrhythmia, Dilated cardiomyopathy, Neuropathic spinal arthropathy |
ORPHA:352447 |
| 8Q24.3 Microdeletion Syndrome |
|
Abnormal lung lobation, Gastrointestinal hemorrhage, Atrioventricular canal defect, Hypoplastic a... |
ORPHA:508488 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Pagod Syndrome |
|
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Pulmonary hypopl... |
ORPHA:991 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Scoliosis, Irregular vertebral endplates, Kyphosis |
OMIM:234250 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology... |
OMIM:615873 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:615761 |
| Metatropic Dysplasia |
|
Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Kyphosis, Aniso... |
OMIM:156530 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Kyphoscoliosis, Polyhydramnios, Abnormal aortic arch morphology, Scoliosis, Hemivertebrae, Hypert... |
ORPHA:96334 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Abnormal left ventricular function, V... |
OMIM:607155 |
| Maternal Phenylketonuria |
|
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... |
ORPHA:2209 |
| Myopathy, Centronuclear, 2 |
|
Scoliosis, Hyperlordosis, Oligohydramnios, Kyphosis |
OMIM:255200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... |
ORPHA:308552 |
| Feingold Syndrome 1 |
|
Polyhydramnios, Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Patent ductus art... |
OMIM:164280 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urin... |
ORPHA:391428 |
| Ullrich Congenital Muscular Dystrophy |
|
Scoliosis, Short neck, Spinal rigidity, Kyphosis |
ORPHA:75840 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Acute kidney injury, Proteinuria |
OMIM:618886 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Dextrocardia, Hemivertebrae, Coarctation of aorta, Atrial septal defect, Ventr... |
OMIM:264480 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept... |
OMIM:312870 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Pleural effusion, Abnormal lymphatic vessel morphology, Ascites, Gen... |
ORPHA:90362 |
| Blau Syndrome |
|
Large vessel vasculitis, Aortic aneurysm, Hypertension, Pulmonary arterial hypertension, Pericard... |
ORPHA:90340 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scoliosis, Kyphosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:617061 |
| Acrocardiofacial Syndrome |
|
Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def... |
ORPHA:2008 |
| Cardiomyopathy, Dilated, 1A |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... |
OMIM:115200 |
| Fontaine Progeroid Syndrome |
|
Pneumothorax, Platyspondyly, Aortic aneurysm, Scoliosis, Pulmonary arterial hypertension, Tricusp... |
OMIM:612289 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Scoliosis, Abnormality of the cervical spine, Kyphosis |
ORPHA:48431 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Aortic aneurysm, Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Lumbar hyperlordosis |
OMIM:620450 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:178148 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, Aortic regurgitation, Kyphosis |
ORPHA:2181 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Abnormality of the cervical spine, Pulmonic stenosis... |
ORPHA:353281 |
| Microphthalmia, Syndromic 2 |
|
Dextrocardia, Hypoplastic aortic arch, Scoliosis, Aortic valve stenosis, Pulmonic stenosis, Mitra... |
OMIM:300166 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... |
ORPHA:324410 |
| Weismann-Netter Syndrome |
|
Scoliosis, Horizontal sacrum, Kyphosis |
OMIM:112350 |
| Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3098 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Supraventricular arrhythmia, Hyperlordosis, Scoliosis, Kyphosis, Ventricular esc... |
ORPHA:98855 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Supraventricular arrhythmia, Hyperlordosis, Scoliosis, Hypertrophic cardiomyopat... |
ORPHA:98863 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| 2Q37 Microdeletion Syndrome |
|
Short neck, Abnormal aortic morphology |
ORPHA:1001 |
| 3M Syndrome |
|
Increased vertebral height, Scoliosis, Hyperlordosis, Kyphosis, Abnormal cerebral vascular morpho... |
ORPHA:2616 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Aortic aneurysm, Scoliosis, Vertebral segmentation defect, Increased nuchal translucency, Abnorma... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Aortic aneurysm, Scoliosis, Vertebral segmentation defect, Increased nuchal translucency, Abnorma... |
ORPHA:352665 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Scoliosis, Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Kyphosis |
OMIM:619951 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Scoliosis, Kyphosis |
OMIM:615834 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop... |
OMIM:618748 |
| Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Supraventricular arrhythmia, Hyperlordosis, Scoliosis, Hypertrophic cardiomyopat... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Supraventricular arrhythmia, Hyperlordosis, Scoliosis, Hypertrophic cardiomyopat... |
ORPHA:98853 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
| Williams Syndrome |
|
Abnormal carotid artery morphology, Abnormal form of the vertebral bodies, Hypertension, Hyperlor... |
ORPHA:904 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3454 |
| Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Internal hemorrhage, Respiratory tract infect... |
ORPHA:805 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
| Oculoectodermal Syndrome |
|
Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ... |
OMIM:600268 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Scoliosis, Kyphosis |
OMIM:618484 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Kyphoscoliosis, Polyhydramnios, Tricuspid regurgitation, Aortic rupture, Atlantoaxial instability... |
OMIM:614557 |
| Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis, Mitral valve prolapse |
ORPHA:137834 |
| Mgat2-Cdg |
|
Abnormal bleeding, Hydrops fetalis, Patent ductus arteriosus, Reflex asystolic syncope, Scoliosis... |
ORPHA:79329 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Scoliosis, Hemivertebrae, Kyphosis, Pulmonic stenosis, Patent ductus arteriosus, Double outlet ri... |
OMIM:618223 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hydrops fetalis, Ascites, Kyphosis, Pericardial effusion, Short neck, Atrial septal defect |
OMIM:608776 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... |
ORPHA:300751 |
| Sjögren-Larsson Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:816 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Kyphosis |
ORPHA:99014 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Scoliosis, Vertebral segmentation defect, Kyphosis |
ORPHA:2617 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Small vessel vasculitis, Purpura, Hydrops fetalis, Ascending tubular aorta aneurysm, Periorbital ... |
OMIM:620376 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Scoliosis, Kyphosis |
OMIM:300861 |
| Hypomelanosis Of Ito |
|
Scoliosis, Kyphosis |
OMIM:300337 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Coarctation of aorta, Hydrops fetalis, Ventricular septal defect |
ORPHA:268249 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... |
OMIM:612474 |
| 1P36 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Abnormal heart valve morphology, Scoliosis, Aortic arch aneur... |
ORPHA:1606 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp... |
OMIM:313400 |
| Q Fever |
|
Myocarditis, Abnormal vascular morphology, Purpura, Abnormal pulmonary interstitial morphology, V... |
ORPHA:781 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Scoliosis, Kyphosis |
OMIM:618124 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Atrioventricular canal defect, Polyhydramnios, Patent foramen ov... |
OMIM:605275 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion |
OMIM:606612 |
| Restrictive Dermopathy |
|
Transposition of the great arteries, Polyhydramnios, Dextrocardia, Ascending tubular aorta aneury... |
ORPHA:1662 |
| Alpha-Mannosidosis |
|
Scoliosis, Short neck, Recurrent respiratory infections, Kyphosis |
ORPHA:61 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Patent foramen ovale, Scoliosis, Pulmonary artery atresia, Tricuspid regurgitation... |
OMIM:616894 |
| Mcdonough Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2471 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Increased nuchal translucency |
ORPHA:77300 |
| Pallister-Hall Syndrome |
|
Abnormal lung lobation, Hemivertebrae, Preductal coarctation of the aorta, Patent ductus arterios... |
OMIM:146510 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Micrope... |
OMIM:602782 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Scoliosis, Kyphosis |
OMIM:259440 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Scoliosis, Hyperlordosis, Kyphosis, Aortic valve stenosis, Short neck |
OMIM:252605 |
| Crisponi Syndrome |
|
Scoliosis, Sudden cardiac death, Kyphosis |
ORPHA:1545 |
| Digeorge Syndrome |
|
Right aortic arch with mirror image branching, Atelectasis, Intervertebral disk degeneration, Int... |
OMIM:188400 |
| Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617435 |
| Diastrophic Dysplasia |
|
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Recurrent respiratory infections, Hyp... |
ORPHA:628 |
| Charge Syndrome |
|
Polyhydramnios, Abnormal aortic valve morphology, Interrupted aortic arch, Scoliosis, Hemivertebr... |
ORPHA:138 |
| Rubinstein-Taybi Syndrome 1 |
|
Perimembranous ventricular septal defect, Polyhydramnios, Spina bifida occulta, Patent foramen ov... |
OMIM:180849 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Left superior vena cava draining to coronary sinus, Scoliosis, Pulmonary arterial hypertension, K... |
ORPHA:464738 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Abnormal lung lobation, Polyhydramnios, Aortic regurgitation, Abnormal aortic morphology, Ascites... |
ORPHA:1052 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis |
ORPHA:536516 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:614409 |
| Autosomal Recessive Robinow Syndrome |
|
Atrial septal defect, Sacral dimple, Abnormal tricuspid valve morphology, Scoliosis, Vertebral se... |
ORPHA:1507 |
| Spondyloenchondrodysplasia |
|
Platyspondyly, Vasculitis, Hypertension, Kyphosis, Raynaud phenomenon, Pneumonia |
ORPHA:1855 |
| Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Pulmonic stenosis, Patent ductus arterio... |
OMIM:620185 |
| Mogs-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect |
ORPHA:79330 |
| Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Scoliosis, Kyphosis, Pulmonary arterial hypertension |
OMIM:259420 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis |
OMIM:616455 |
| Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Coarctation of aorta, Pulmonary hypoplasia, Platyspondyly |
ORPHA:50945 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrops fetalis, Anterior beaking of lumbar vertebrae, Platyspondyly, Abnormal heart valve morpho... |
OMIM:253220 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Sacral ... |
OMIM:619503 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged prothrombin time, Cardiomyopathy, Kyphosis, Pericarditis, Stroke-like episode, Pericard... |
OMIM:212065 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Toriello-Carey Syndrome |
|
Cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arter... |
ORPHA:3338 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inlet ventricular septal defect, Ascites, Left-to-right shunt, Edema, Aortic regurgitation, Paten... |
OMIM:619534 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Bicuspid aortic valve, Scoliosis, Pulmonary artery atresia, Ventricular septal defect, Supravalva... |
OMIM:618164 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis... |
ORPHA:93314 |
| Hurler-Scheie Syndrome |
|
Aortic regurgitation, Scoliosis, Kyphosis, Pulmonary arterial hypertension, Recurrent respiratory... |
OMIM:607015 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Abnormal tricuspid valve morphology, Abnormal heart valve morpholo... |
ORPHA:217085 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Congestive heart failure, Palpebral edema, Aortic regurgitation, Aortic aneurysm, Scoliosis, Kyph... |
OMIM:619475 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis |
ORPHA:3085 |
| Baralle-Macken Syndrome |
|
Kyphosis |
OMIM:619255 |
| Esophageal Atresia |
|
Polyhydramnios, Abnormal vertebral morphology, Bronchitis, Scoliosis, Coarctation of aorta, Pulmo... |
ORPHA:1199 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:464282 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Kyphosis |
OMIM:300676 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... |
ORPHA:1677 |
| Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... |
ORPHA:774 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Abnormal tricuspid valve morphology, Abnormal heart valve morpholo... |
ORPHA:217093 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Scoliosis, Kyphosis, Arrhythmia, Short neck, Atrial septal defect, Ventricu... |
ORPHA:254346 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Abnormal subclavian artery morphology, Polyhydramnios, Atrial septal defec... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Abnormal subclavian artery morphology, Polyhydramnios, Atrial septal defec... |
ORPHA:353277 |
| Stickler Syndrome, Type I |
|
Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Mitral v... |
OMIM:108300 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis |
ORPHA:2522 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatic failure |
OMIM:608013 |
| Tetrasomy 9P |
|
Sacral dimple, Dextrocardia, Juxtaductal coarctation of the aorta, Patent foramen ovale, Pulmonar... |
ORPHA:3310 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Scoliosis, Hyperlordosis, Kyphosis, Spinal canal stenosis, Platy... |
ORPHA:582 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis |
OMIM:208000 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly |
OMIM:232300 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Scoliosis, Atrial septal defect, Ventricular septal defect, Kyphosis |
ORPHA:261190 |
| Brachyolmia Type 3 |
|
Platyspondyly, Short neck, Scoliosis, Kyphosis |
OMIM:113500 |
| Typical Nemaline Myopathy |
|
Spinal rigidity, Polyhydramnios, Scoliosis, Hyperlordosis, Kyphosis, Short neck |
ORPHA:171436 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Urinary incontinence, Cardiomyopathy |
OMIM:105210 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... |
ORPHA:580 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:238750 |
| Arthrogryposis, Distal, Type 5 |
|
Scoliosis, Kyphosis |
OMIM:108145 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Biliary hyperpl... |
OMIM:619991 |
| Bruck Syndrome 1 |
|
Vertebral wedging, Scoliosis, Platyspondyly, Kyphosis |
OMIM:259450 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Biventricular hypertrophy, Pulmonary artery aneurysm, Anomalous origin of right coronary artery f... |
OMIM:616462 |
| Marshall-Smith Syndrome |
|
Kyphoscoliosis, Atlantoaxial dislocation, Patent ductus arteriosus, Scoliosis, Hypertension, Thor... |
OMIM:602535 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Scoliosis, Kyphosis, Pulmonary arterial hypertension, Recurrent pneumonia, Atrial septal defect, ... |
OMIM:616449 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Purpura, Vertebral compression fracture, Hypertension, Kyphosis, Biconcave vertebral bodies, Ecch... |
OMIM:219090 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Kyphosis, Ovoid vertebral bodies, Recurrent upper respiratory tr... |
ORPHA:583 |
| Congenital Myopathy 22A, Classic |
|
Spinal rigidity, Polyhydramnios, Bradycardia, Scoliosis, Kyphosis, Tricuspid regurgitation, Thora... |
OMIM:620351 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
| Frank-Ter Haar Syndrome |
|
Kyphoscoliosis, Prominent coccyx, Patent foramen ovale, Kyphosis, Secundum atrial septal defect, ... |
OMIM:249420 |
| Ruvalcaba Syndrome |
|
Scoliosis, Kyphosis |
OMIM:180870 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Clark-Baraitser syndrome |
|
Scoliosis, Kyphosis |
OMIM:300602 |
| Alstrom Syndrome |
|
Congestive heart failure, Scoliosis, Hypertension, Kyphosis, Recurrent pneumonia, Dilated cardiom... |
OMIM:203800 |
| Smith-Mccort Dysplasia 1 |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis, Atlantoaxial instability, Hypoplasia of the odo... |
OMIM:607326 |
| 15Q24 Microdeletion Syndrome |
|
Scoliosis, Abnormal heart morphology, Kyphosis |
ORPHA:94065 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Pulmonary hypopl... |
ORPHA:958 |
| Atypical Rett Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3095 |
| Marden-Walker Syndrome |
|
Dextrocardia, Scoliosis, Kyphosis, Pulmonary hypoplasia, Short neck |
OMIM:248700 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Scoliosis, Abnormal heart morphology, Ventricular septal defect, Kyphosis |
ORPHA:404440 |
| Bruck Syndrome |
|
Platyspondyly, Scoliosis, Kyphosis |
ORPHA:2771 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Short neck, Scoliosis, Polyhydramnios, Kyphosis |
OMIM:301041 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bruising susceptibility, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:617821 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
| Fountain Syndrome |
|
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Facial edema |
ORPHA:3219 |
| Charge Syndrome |
|
Polyhydramnios, Right aortic arch, Scoliosis, Pulmonary artery atresia, Dysplastic tricuspid valv... |
OMIM:214800 |
| 17Q11 Microdeletion Syndrome |
|
Beaking of vertebral bodies T12-L3, Kyphosis, Abnormality of the vertebral column, Stroke, Hypert... |
ORPHA:97685 |
| Fucosidosis |
|
Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria |
OMIM:230000 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Back p... |
ORPHA:94068 |
| Wieacker-Wolff Syndrome |
|
Short neck, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:314580 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
| Weismann-Netter Syndrome |
|
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Craniofacial Microsomia 1 |
|
Right aortic arch, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Coarctation of aorta, Pulmonar... |
OMIM:164210 |
| Noonan Syndrome 14 |
|
Polyhydramnios, Aortic regurgitation, Hypertrophic cardiomyopathy, Kyphosis, Pulmonic stenosis, S... |
OMIM:619745 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebral bodies, Hypoplasia of the odontoid... |
OMIM:183900 |
| Holoprosencephaly |
|
Abnormal form of the vertebral bodies, Scoliosis, Abnormal aortic morphology, Aplasia/Hypoplasia ... |
ORPHA:2162 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Scoliosis, Spinal rigidity, Recurrent lower respiratory tract infections, Kyphosis |
OMIM:254090 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocellular necrosis,... |
OMIM:618278 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Aortic regurgitation, Scoliosis, Kyphosis, Abnormality of the cervical spine, Aor... |
ORPHA:464311 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphoscoliosis, Patent foramen ovale, Scoliosis, Ventricular septal defect, Kyphosis, Left ventri... |
OMIM:300967 |
| Becker Nevus Syndrome |
|
Scoliosis, Kyphosis, Spina bifida occulta |
ORPHA:64755 |
| Noonan Syndrome 1 |
|
Kyphoscoliosis, Abnormal bleeding, Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Pulmonic... |
OMIM:163950 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy |
ORPHA:268 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Scoliosis, Telangiectasia of the skin, Kyphosis |
OMIM:615381 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
| Schaaf-Yang Syndrome |
|
Scoliosis, Kyphosis |
OMIM:615547 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1883 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... |
ORPHA:2916 |
| Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Hypoplastic coccygeal vertebrae, Spina bifida occulta, Tricuspid stenos... |
OMIM:105650 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Kyphosis |
OMIM:169400 |
| Desbuquois Dysplasia 1 |
|
Scoliosis, Hyperlordosis, Kyphosis, Platyspondyly, Short neck |
OMIM:251450 |
| Proteus Syndrome |
|
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly |
ORPHA:744 |
| Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Short neck, Ventricula... |
ORPHA:2789 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Kyphosis, Biconcave vertebral bodies, Short neck, Hypoplasi... |
OMIM:607014 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis |
OMIM:300354 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Scoliosis, Coarctation of aorta, Atrioventricular canal defect, Patent ductus arteriosus |
OMIM:619480 |
| Catel-Manzke Syndrome |
|
Dextrocardia, Scoliosis, Short neck, Coarctation of aorta, Overriding aorta, Ventricular septal d... |
OMIM:616145 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal aortic valve morphology, Mucopolysacchariduria, Abnormal mitral valve morp... |
ORPHA:581 |
| Alagille Syndrome 1 |
|
Butterfly vertebral arch, Stroke, Hemivertebrae, Renal artery stenosis, Coarctation of aorta, Tet... |
OMIM:118450 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Cervical spinal canal stenosis, Polyhydramnios, Sacral dimple, Cervical instability, Increased in... |
ORPHA:508533 |
| Mucolipidosis Iii Alpha/Beta |
|
Spondylolisthesis, Aortic regurgitation, Scoliosis, Cardiomyopathy, Kyphosis, Severely reduced le... |
OMIM:252600 |
| Achondroplasia |
|
Cervical spinal canal stenosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h... |
ORPHA:15 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Platyspondyly, Scoliosis, Kyphosis, Abnormal curvature of the vertebral column, T... |
ORPHA:93360 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
| Trisomy 9P |
|
Short neck, Scoliosis, Sacral dimple, Kyphosis |
ORPHA:236 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Renal cyst |
ORPHA:137675 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Kyphosis, Pulmonary arterial hypertension, Platyspondyly, Lumbar hyperl... |
OMIM:616482 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Spina bifida occulta, Kyphosis |
ORPHA:2983 |
| Abetalipoproteinemia |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomegaly, H... |
ORPHA:14 |
| Srd5A3-Cdg |
|
Abnormal sacrum morphology, Kyphosis |
ORPHA:324737 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Kyphosis |
OMIM:151800 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Pseudoachondroplasia |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplasia of the odontoid process, Atlantoaxia... |
OMIM:177170 |
| Urban-Rogers-Meyer Syndrome |
|
Short neck, Kyphosis |
ORPHA:3409 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Small cell lung carcinoma, Aortic aneurysm, Scoliosis, Sacrococcyg... |
ORPHA:821 |
| Williams-Beuren Syndrome |
|
Myxomatous mitral valve degeneration, Kyphoscoliosis, Stroke, Hypertension, Renal artery stenosis... |
OMIM:194050 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Polyhydramnios, Atrioventricular canal defect, Aplasia of the epiglottis, Coarctation of aorta, P... |
OMIM:617088 |
| Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Scoliosis, Vertebral segmentation defect, Kyphosis, Bicuspid ... |
ORPHA:96169 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Kyphoscoliosis, Aortic regurgitation, Intervertebral space narrowing, Scoliosis, Ventricular hype... |
OMIM:143095 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:181405 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Kyphosis |
ORPHA:3082 |
| Rett Syndrome |
|
Prolonged QTc interval, Scoliosis, Kyphosis, Abnormal T-wave |
OMIM:312750 |
| Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis |
ORPHA:3121 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Kyphosis, Platyspondyly, Bruising susceptibility, Carotid artery tortuosity |
OMIM:304150 |
| Bohring-Opitz Syndrome |
|
Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardi... |
ORPHA:97297 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Scoliosis, Kyphosis, Abnormality of the cervical spine, Aortic valve stenos... |
ORPHA:464306 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Scoliosis, Hyperlordosis, Kyphosis |
OMIM:618443 |
| Fanconi Anemia |
|
Abnormal carotid artery morphology, Abnormal aortic valve morphology, Arteriovenous malformation,... |
ORPHA:84 |
| Marinesco-Sjogren Syndrome |
|
Scoliosis, Kyphosis |
OMIM:248800 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Palpebral edema, Kyphosis |
ORPHA:261144 |
| Mucopolysaccharidosis, Type Ii |
|
Congestive heart failure, Abnormal heart valve morphology, Kyphosis, Recurrent pneumonia, Short neck |
OMIM:309900 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Bruising susceptibility, Hypertension, Kyphosis |
OMIM:219080 |
| Arthrogryposis, Distal, Type 4 |
|
Lumbar scoliosis, Scoliosis, Kyphosis |
OMIM:609128 |
| Coffin-Lowry Syndrome |
|
Abnormal aortic valve morphology, Abnormal tricuspid valve morphology, Abnormal form of the verte... |
ORPHA:192 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc... |
ORPHA:2062 |
| Hajdu-Cheney Syndrome |
|
Scoliosis, Kyphosis, Aortic valve stenosis, Biconcave vertebral bodies, Mitral stenosis, Hypoplas... |
ORPHA:955 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Bruising susceptibility, Hypertension, Kyphosis |
OMIM:610475 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:79107 |
| Genitopalatocardiac Syndrome |
|
Scoliosis, Kyphosis, Abnormal cardiac septum morphology |
ORPHA:2075 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:96191 |
| 16Q24.3 Microdeletion Syndrome |
|
Scoliosis, Kyphosis, Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation |
ORPHA:261250 |
| Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Oligohydramnios, Kyphosis |
OMIM:616294 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Scoliosis, Kyphosis |
OMIM:609541 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:128100 |
| Femoral-Facial Syndrome |
|
Scoliosis, Truncus arteriosus, Hemivertebrae, Pulmonic stenosis, Coarctation of aorta, Dysplastic... |
OMIM:134780 |
| Weaver Syndrome |
|
Scoliosis, Kyphosis, Patent ductus arteriosus |
OMIM:277590 |
| Cardiofacioneurodevelopmental Syndrome |
|
Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect, Kyphosis |
OMIM:619123 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I... |
OMIM:603546 |
| Mosaic Trisomy 20 |
|
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Abnormal mitral val... |
ORPHA:1724 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Scoliosis, Kyphosis |
ORPHA:364028 |
| Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of the odontoid p... |
OMIM:223800 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Kyphosis |
OMIM:300942 |
| 2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, Aortic regurgitation, Scoliosis, Kyphosis, Recurrent respiratory infections, Mitr... |
ORPHA:261349 |
| Cono-Spondylar Dysplasia |
|
Short neck, Scoliosis, Polyhydramnios, Kyphosis |
ORPHA:420794 |
| Mucolipidosis Type Ii |
|
Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Patent foramen o... |
ORPHA:576 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Scoliosis, Kyphosis |
OMIM:617143 |
| Dysostosis, Stanescu Type |
|
Short neck, Scoliosis, Hyperlordosis, Kyphosis |
ORPHA:1798 |
| Trisomy 20P |
|
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Kyphosis, Platys... |
ORPHA:261318 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Scoliosis, Recurrent respiratory infections, Kyphosis |
OMIM:211530 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly |
OMIM:620371 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Atrioventricular canal defect, Polyhydramnios, Abnormal form of the verte... |
ORPHA:818 |
| Occipital Horn Syndrome |
|
Vascular dilatation, Venous insufficiency, Scoliosis, Kyphosis, Platyspondyly, Bruising susceptib... |
ORPHA:198 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Kyphosis, Back pain, Sacroiliac arthritis, Arrhythmia |
OMIM:106300 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Perimembranous ventricular septal defect, Scoliosis, Hemivertebrae, Kyphosis, Ven... |
OMIM:301040 |
| Zttk Syndrome |
|
Aortic regurgitation, Scoliosis, Hemivertebrae, Kyphosis, Unilateral lung agenesis, Patent ductus... |
OMIM:617140 |
| Cockayne Syndrome Type 2 |
|
Scoliosis, Kyphosis |
ORPHA:90322 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Scoliosis, Vertebral segmentation defect, Kyphosis |
ORPHA:1005 |
| Jaberi-Elahi Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617988 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Bruising susceptibility, Hypertension, Kyphosis |
OMIM:610489 |
| Cole-Carpenter Syndrome |
|
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Harrod Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2115 |
| Pycnodysostosis |
|
Spondylolysis, Spondylolisthesis, Scoliosis, Hyperlordosis, Kyphosis |
ORPHA:763 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Scoliosis, Polyhydramnios, Kyphosis |
ORPHA:2215 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Scoliosis, Recurrent pneumonia, Kyphosis |
OMIM:618493 |
| Schwartz-Jampel Syndrome |
|
Spinal rigidity, Polyhydramnios, Scoliosis, Hyperlordosis, Abnormally ossified vertebrae, Pulmona... |
ORPHA:800 |
| 2Q31.1 Microdeletion Syndrome |
|
Scoliosis, Vertebral segmentation defect, Kyphosis, Short neck, Atrial septal defect, Ventricular... |
ORPHA:251014 |
| Spondyloperipheral Dysplasia |
|
Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platyspondyly, Short neck |
OMIM:271700 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:88628 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Anterior clefting of vertebral bodies, Hydrops fetalis, Fused cervical vertebrae, Scoliosis, Kyph... |
OMIM:265000 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis, Complete atrioventricular canal defect |
ORPHA:476126 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis |
ORPHA:97349 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Scoliosis, Kyphosis |
ORPHA:88644 |
| Alexander Disease |
|
Scoliosis, Hypertension, Hyperlordosis, Hypotension, Kyphosis, Short neck, Sudden cardiac death |
ORPHA:58 |
| Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Sacral dimple, Abnormal vertebral morphology, Abnormality of the vertebral ... |
ORPHA:280 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ... |
OMIM:259770 |
| Cockayne Syndrome |
|
Scoliosis, Hypertension, Retinal hemorrhage, Kyphosis, Retinal arteriolar constriction, Vascular ... |
ORPHA:191 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Platyspondyly, Sclerotic vertebral body, Kyphosis |
OMIM:618476 |
| Cohen Syndrome |
|
Kyphosis, Scoliosis, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Scoliosis, Kyphosis, Atrial septal defect, Xerostomia |
ORPHA:398069 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:85293 |
| Megalocornea-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2479 |
| Microphthalmia, Lenz Type |
|
Scoliosis, Hyperlordosis, Kyphosis |
ORPHA:568 |
| Cockayne Syndrome A |
|
Persistent left superior vena cava, Hypertension, Kyphosis, Arrhythmia |
OMIM:216400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Prominent protruding coccyx, Scoliosis, Kyphosis, Prominent coccyx, Short neck |
OMIM:300966 |
| Micro Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2510 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Scoliosis, Kyphosis |
OMIM:166220 |
| Prader-Willi Syndrome |
|
Polyhydramnios, Scoliosis, Kyphosis, Edema, Recurrent respiratory infections, Oligohydramnios |
OMIM:176270 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Ovoid vertebral bodies, Thoracol... |
OMIM:618019 |
| Neurofibromatosis Type 1 |
|
Kyphosis, Scoliosis, Hypertension, Arterial stenosis |
ORPHA:636 |
| Campomelic Dysplasia |
|
Short neck, Scoliosis, Poorly ossified cervical vertebrae, Kyphosis |
ORPHA:140 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Scoliosis, Kyphosis |
ORPHA:1969 |
| Cowden Syndrome 5 |
|
Scoliosis, Kyphosis |
OMIM:615108 |
| Cowden Syndrome 6 |
|
Scoliosis, Kyphosis |
OMIM:615109 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia, Kyphosis |
OMIM:619708 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Scoliosis, Kyphosis |
ORPHA:500055 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Abnormal form of t... |
ORPHA:2461 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Kyphosis |
ORPHA:521426 |
| Familial Osteodysplasia, Anderson Type |
|
Scoliosis, Hypertension, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
| Triosephosphate Isomerase Deficiency |
|
Congestive heart failure, Oligohydramnios, Kyphosis |
OMIM:615512 |
| Cowden Syndrome 1 |
|
Scoliosis, Kyphosis |
OMIM:158350 |
| Yunis-Varon Syndrome |
|
Hypospadias, Renal artery stenosis, Cardiomyopathy, Renovascular hypertension, Tetralogy of Fallo... |
ORPHA:3472 |
| Monosomy 9Q22.3 |
|
Cardiac fibroma, Short neck, Kyphosis, Abnormality of the vertebral column |
ORPHA:77301 |
| Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis |
OMIM:610915 |
| Coffin-Siris Syndrome 1 |
|
Sacral dimple, Recurrent respiratory infections, Spina bifida occulta, Scoliosis, Kyphosis, Tetra... |
OMIM:135900 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Edema, Kyphosis |
OMIM:617527 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Scoliosis, Kyphosis, Decreased heart rate variability |
OMIM:619005 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly |
OMIM:256040 |
| Wrinkly Skin Syndrome |
|
Kyphosis, Scoliosis, Muscular ventricular septal defect, Atrial septal dilatation |
OMIM:278250 |
| Rett Syndrome, Congenital Variant |
|
Scoliosis, Kyphosis |
OMIM:613454 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Aortic regurgitation, Scoliosis, Kyphosis, Aortic valve stenosis, Abnormal heart m... |
ORPHA:268261 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Scoliosis, Kyphosis |
OMIM:619557 |
| Poland Syndrome |
|
Dextrocardia, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Kyph... |
ORPHA:2911 |
| Mend Syndrome |
|
Aortic valve stenosis, Sacral dimple, Abnormal heart morphology, Kyphosis |
ORPHA:401973 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Sinus bradycardia, Aspiration pneumonia |
OMIM:619482 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Scoliosis, Oligohydramnios, Kyphosis |
OMIM:619194 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Scoliosis, Kyphosis |
OMIM:618050 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:162300 |
| Camurati-Engelmann Disease |
|
Abnormality of the vertebral column, Scoliosis, Hyperlordosis, Kyphosis, Hypertrophic cardiomyopathy |
ORPHA:1328 |
| Stickler Syndrome |
|
Spondylolisthesis, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Spinal canal steno... |
ORPHA:828 |
| Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Cerebral edema, Kyphosis |
ORPHA:3063 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Atelectasis, Platyspondyly, Scoliosis, Dehydration, Kyphosis, Joint swelling, Recurrent respirato... |
ORPHA:534 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Platyspondyly... |
OMIM:208400 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:617011 |
| Mend Syndrome |
|
Aortic valve stenosis, Sacral dimple, Kyphosis |
OMIM:300960 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Scoliosis, Kyphosis |
OMIM:619718 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Kyphosis |
ORPHA:1393 |
| Acromegaly |
|
Palpebral edema, Hypertension, Hypertrophic cardiomyopathy, Kyphosis, Spinal canal stenosis, Join... |
ORPHA:963 |
| Somatomammotropinoma |
|
Palpebral edema, Hypertension, Hypertrophic cardiomyopathy, Kyphosis, Spinal canal stenosis, Join... |
ORPHA:314769 |
| Cleidocranial Dysplasia 1 |
|
Scoliosis, Spondylolysis, Spondylolisthesis, Kyphosis |
OMIM:119600 |
| Ramon Syndrome |
|
Scoliosis, Kyphosis, Telangiectasia |
OMIM:266270 |
| Yunis-Varon Syndrome |
|
Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Anterior concavity of thoracic vertebrae, ... |
OMIM:216340 |
| Cockayne Syndrome B |
|
Hypertension, Kyphosis, Arrhythmia |
OMIM:133540 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Posterior scalloping of vertebral bod... |
ORPHA:3042 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Kyphosis |
ORPHA:457359 |
| Shprintzen Omphalocele Syndrome |
|
Scoliosis, Lumbar hyperlordosis, Kyphosis |
OMIM:182210 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Kyphosis |
ORPHA:2232 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Atrial septal defect, ... |
OMIM:194190 |
| Cowden Syndrome |
|
Scoliosis, Mucosal telangiectasiae, Kyphosis |
ORPHA:201 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Scoliosis, Kyphosis |
ORPHA:2658 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
| Coffin-Lowry Syndrome |
|
Scoliosis, Mitral regurgitation, Kyphosis, Lumbar kyphosis |
OMIM:303600 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Kyphosis, Platyspondyly, Recu... |
ORPHA:2273 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondyly, Anterior we... |
OMIM:300106 |
| Lowe Oculocerebrorenal Syndrome |
|
Platyspondyly, Scoliosis, Kyphosis |
OMIM:309000 |
| Branchiooculofacial Syndrome |
|
Short neck, Hyperlordosis, Kyphosis |
OMIM:113620 |
| Alström Syndrome |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension, Portal hypertension, Kyp... |
ORPHA:64 |
| Primrose Syndrome |
|
Posterior scalloping of vertebral bodies, Kyphosis, Irregular vertebral endplates |
OMIM:259050 |
| Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
| Lynch Syndrome |
|
Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma... |
ORPHA:144 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma |
ORPHA:99977 |
