Familial Aortic Dissection |
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Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Fibromuscular Dysplasia, Arterial |
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Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... |
OMIM:135580 |
Aorto-Ventricular Tunnel |
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Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Aortic Aneurysm, Familial Thoracic 7 |
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Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 4 |
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Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Aortic Aneurysm, Familial Thoracic 12 |
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Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... |
OMIM:619825 |
Aortic Aneurysm, Familial Thoracic 6 |
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Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Aortic Aneurysm, Familial Thoracic 8 |
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Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Familial Cerebral Saccular Aneurysm |
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Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Aortic Valve Disease 3 |
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Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
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Descending aortic dissection, Osteoarthritis, Bronchiectasis, Ascending aortic dissection, Bruisi... |
OMIM:620080 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
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Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
16P13.11 Microduplication Syndrome |
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Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Joint hyperflexibility, Transp... |
ORPHA:261243 |
Marfanoid Habitus With Situs Inversus |
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Aortic regurgitation, Hyperextensibility of the finger joints, Genu recurvatum, Situs inversus to... |
OMIM:609008 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Aortic root aneurysm, Transposition ... |
OMIM:619910 |
Aortic Aneurysm, Familial Thoracic 10 |
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Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform asc... |
OMIM:617168 |
Mass Syndrome |
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Mitral valve prolapse, Ascending aortic dissection, Scoliosis, Aortic aneurysm |
OMIM:604308 |
Contractural Arachnodactyly, Congenital |
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Osteopenia, Bicuspid aortic valve, Short neck, Brachycephaly, Knee flexion contracture, Atrial se... |
OMIM:121050 |
Congenital Alpha2-Antiplasmin Deficiency |
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Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Igg4-Related Aortitis |
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Low back pain, Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubul... |
ORPHA:449400 |
Aortic Aneurysm, Familial Thoracic 9 |
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Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Loeys-Dietz Syndrome 4 |
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Joint laxity, Bicuspid aortic valve, Protrusio acetabuli, Arterial tortuosity, Dolichocephaly, Pn... |
OMIM:614816 |
Pulmonary Capillary Hemangiomatosis |
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Pulmonary edema, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Pu... |
ORPHA:199241 |
Moyamoya Disease 5 |
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Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
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Joint laxity, Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Scoliosis, C... |
OMIM:301039 |
Pulmonary Arteriovenous Malformation |
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Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H... |
ORPHA:2038 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Osteopenia, Thoracic scoliosis, Prominent superficial veins, Carotid artery stenosis, Short neck,... |
OMIM:618000 |
Distal Duplication 14Q |
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Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Cap Myopathy |
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Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Central hypoventilation, Mit... |
ORPHA:171881 |
Periventricular Nodular Heterotopia |
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Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Patent ductus arteriosu... |
ORPHA:98892 |
Teebi Hypertelorism Syndrome 1 |
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Frontal bossing, Ventricular septal defect, Sagittal craniosynostosis, Aortic root aneurysm, Pulm... |
OMIM:145420 |
Aortic Valve Disease 2 |
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Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... |
OMIM:614823 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Osteopenia, Joint dislocation, Thoracic scoliosis, Distal joint laxity, Generalized joint laxity,... |
ORPHA:1900 |
Aneurysm Of Sinus Of Valsalva |
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Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial e... |
ORPHA:1054 |
Arterial Tortuosity Syndrome |
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Respiratory distress, Myocardial infarction, Pulmonary artery stenosis, Dilated cardiomyopathy, C... |
ORPHA:3342 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Coarctation Of Aorta |
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Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Respiratory distress, Multiple joint contractures, Multiple joint dislocation, Repeat... |
ORPHA:536467 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... |
ORPHA:860 |
Autosomal Dominant Coarctation Of Aorta |
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Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Loeys-Dietz Syndrome |
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Abnormal bleeding, Joint dislocation, Cardiac arrest, Craniosynostosis, Arterial tortuosity, Camp... |
ORPHA:60030 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
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Right aortic arch with mirror image branching |
OMIM:107500 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
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Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
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Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
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Aortic regurgitation, Joint dislocation, Tricuspid regurgitation, Left ventricular hypertrophy, T... |
ORPHA:230851 |
Laubry-Pezzi Syndrome |
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Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp... |
ORPHA:99094 |
Aneurysm-Osteoarthritis Syndrome |
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Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity... |
ORPHA:284984 |
Craniosynostosis 1 |
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Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
Aortic Aneurysm, Familial Abdominal, 1 |
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Abdominal aortic aneurysm |
OMIM:100070 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
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Osteopenia, Joint laxity, Frontal bossing, Kyphoscoliosis, Hip dislocation, Advanced ossification... |
OMIM:615349 |
Boudin-Mortier Syndrome |
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Joint laxity, Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Meester-Loeys Syndrome |
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Joint dislocation, Frontal bossing, Joint hypermobility, Dolichocephaly, Cervical spine instabili... |
OMIM:300989 |
Loeys-Dietz Syndrome 1 |
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Joint laxity, Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity,... |
OMIM:609192 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Frontal bossing, Ventricular septal defect, Repeated pneumothoraces, Kyphosis, Coarctation of aor... |
OMIM:617602 |
Congenital Heart Defects, Multiple Types, 2 |
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Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Tatton-Brown-Rahman Syndrome |
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Tricuspid regurgitation, Kyphoscoliosis, Supraventricular tachycardia with an accessory connectio... |
ORPHA:404443 |
Congenital Heart Defects, Multiple Types, 4 |
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Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... |
OMIM:613795 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Hyperextensibility of the finger joints, Craniosynostosis, Kyphosis, Scaphocephaly, Mitral valve ... |
OMIM:616914 |
Fixed Subaortic Stenosis |
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Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Aorta Coarctation |
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Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Ciliary Dyskinesia, Primary, 40 |
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Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... |
OMIM:618300 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
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Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Giant Cell Arteritis |
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Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Cough, Recurrent pharyngitis, Abn... |
ORPHA:397 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
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Frontal bossing, Sacral dimple, Craniosynostosis, Short neck, Patent ductus arteriosus, Dolichoce... |
ORPHA:1516 |
Factor V Excess With Spontaneous Thrombosis |
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Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Loeys-Dietz Syndrome 6 |
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Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis... |
OMIM:619656 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Osteopenia, Bicuspid aortic valve, Short neck, Cardiomegaly, Multiple joint dislocation, Brachyce... |
OMIM:245600 |
Arterial Tortuosity Syndrome |
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Aortic regurgitation, Ventricular hypertrophy, Joint laxity, Carotid artery dissection, Pulmonary... |
OMIM:208050 |
Congenital Heart Defects, Multiple Types, 7 |
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Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Osteopenia, Joint dislocation, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Carotid... |
ORPHA:536532 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Ehlers-Danlos Syndrome, Vascular Type |
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Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Hypermobility ... |
OMIM:130050 |
Takayasu Arteritis |
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Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... |
ORPHA:3287 |
Loeys-Dietz Syndrome 5 |
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Ventricular septal defect, Kyphoscoliosis, Osteoarthritis, Brachycephaly, Cervical spine instabil... |
OMIM:615582 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Alpha-2-Plasmin Inhibitor Deficiency |
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Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Scheuermann Disease |
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Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Hypoplastic Left Heart Syndrome 1 |
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Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Yuan-Harel-Lupski Syndrome |
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Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Talipes val... |
OMIM:616652 |
Familial Bicuspid Aortic Valve |
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Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Joint laxity, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Scoliosis |
ORPHA:449291 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Kleeblattschaedel |
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Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Summitt Syndrome |
|
Oxycephaly, Craniosynostosis |
OMIM:272350 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Frontal bossing, Tricuspid regurgitation, Ventricular septal defect, Joint hypermobility, Polyhyd... |
OMIM:617506 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... |
ORPHA:1354 |
Aurocephalosyndactyly |
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Craniosynostosis |
OMIM:109050 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
Craniosynostosis, Philadelphia Type |
|
Craniosynostosis |
ORPHA:1527 |
X Small Rings |
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Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Short neck, Osteoporosis, Reduced... |
ORPHA:96201 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Craniosynostosis 3 |
|
Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Sagittal craniosyn... |
OMIM:615314 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:178377 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Bicuspid aortic valve, Ventricular sept... |
OMIM:610443 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Frontal bossing, Craniosynostosis, Moyamoya phenomenon |
ORPHA:401986 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Polyhydramnios, Generalized osteosclerosis, Hydrops fetalis, Advanced tarsal ossif... |
OMIM:215045 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Allergic rhinitis, Asthma, Bronchiectasis, Aortic root aneurysm... |
OMIM:615816 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Hypoplastic aortic arch, Abn... |
ORPHA:2876 |
Temtamy Syndrome |
|
Joint hyperflexibility, Genu varum, Dolichocephaly, Aortic aneurysm |
ORPHA:1777 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Recurrent respiratory infections, Thoracolumbar scoliosis, Craniosynostosis, Scaphoc... |
OMIM:618523 |
Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
Marfan Syndrome |
|
Osteopenia, Limited elbow movement, Emphysema, Osteoporosis, Dilatation of an abdominal artery, A... |
ORPHA:558 |
Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... |
OMIM:617577 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Joint hypermobility, Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Bruisin... |
OMIM:618343 |
Lowry-Maclean Syndrome |
|
Craniosynostosis, Abnormal heart morphology |
OMIM:600252 |
Symphalangism, Distal |
|
Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis |
OMIM:185700 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... |
OMIM:616602 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary collateral arteries, Pol... |
OMIM:620025 |
Carpenter Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Kyphoscoliosis, Patent ductus arteriosus, Oxyce... |
ORPHA:65759 |
Opitz Gbbb Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Tracheomalacia, Craniosynostosis, Patent fora... |
ORPHA:2745 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Orbital craniosynostosis, Dolichocephaly |
ORPHA:1538 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Mitral valve prolapse, Increased ... |
OMIM:166200 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, Sagittal craniosynostosis |
OMIM:185900 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Vascular ring, Knee fle... |
OMIM:603387 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Fl... |
ORPHA:284979 |
Fragile X Syndrome |
|
Joint laxity, Frontal bossing, Sinusitis, Mitral valve prolapse, Ascending tubular aorta aneurysm |
ORPHA:908 |
Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Carpal bone malsegmentation |
OMIM:600593 |
Marfan Syndrome |
|
Bicuspid aortic valve, Genu recurvatum, Flexion contracture, Emphysema, Tricuspid regurgitation, ... |
OMIM:154700 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcifi... |
OMIM:203500 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... |
OMIM:601612 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Camptodactyly of finger, Joint stiffness, Flexion contracture, Mitral ... |
ORPHA:115 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae,... |
OMIM:230650 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Sagittal craniosynostosis, Premature posterior fontanelle closure, Sma... |
OMIM:314320 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Brachycephaly, Abnormal form ... |
ORPHA:666 |
Au-Kline Syndrome |
|
Sacral dimple, Prominent metopic ridge, Thoracolumbar scoliosis, Sagittal craniosynostosis, Crani... |
OMIM:616580 |
Enlarged Parietal Foramina |
|
Parietal foramina, Craniosynostosis, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Joint stiffness, Tetralogy of Fallot, Respiratory insufficiency, Verte... |
ORPHA:1166 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus, Coronal craniosynostosis |
OMIM:241310 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... |
ORPHA:60041 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form ... |
ORPHA:40 |
Multiple Osteochondromas |
|
Neuropathic spinal arthropathy, Abnormality of the knee, Pseudoaneurysm, Limitation of joint mobi... |
ORPHA:321 |
Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Edema, Polyhydramnios, Cardiomegaly... |
ORPHA:51608 |
Distal Triplication 15Q |
|
Craniosynostosis, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contractur... |
ORPHA:314588 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Metopic suture patent to nasal root, Premature posterior fontanelle cl... |
ORPHA:3369 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Respiratory insufficiency, Craniosynostosis |
OMIM:201550 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Tetrasomy 15Q26 |
|
Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly, Atrial septal d... |
OMIM:614846 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Trigonocephaly, Craniosynostosis, Scaphocephaly, Abnormal heart morphology, Abno... |
OMIM:175700 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi... |
OMIM:614437 |
Hypophosphatasia, Childhood |
|
Frontal bossing, Craniosynostosis, Dolichocephaly |
OMIM:241510 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Joint hypermobility, Scoliosis |
OMIM:618906 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Frontal bossing, Recurrent sinopulmonary infections, Recurrent fractures, Craniosynos... |
OMIM:147060 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology, Genu varum |
ORPHA:1110 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... |
OMIM:618736 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... |
OMIM:614702 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... |
ORPHA:980 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Short neck, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left ... |
ORPHA:2001 |
Rin2 Syndrome |
|
Upper eyelid edema, Increased susceptibility to fractures, Scoliosis, Bruising susceptibility, Jo... |
ORPHA:217335 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Autosomal Dominant Polycystic Kidney Disease |
|
Mitral valve prolapse, Hypertension, Dilatation of the cerebral artery, Aortic root aneurysm, Abn... |
ORPHA:730 |
Sandhoff Disease |
|
Cherry red spot of the macula, Recurrent respiratory infections, Kyphosis, Congestive heart failure |
ORPHA:796 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Craniosynostosis, Patent ductus arteriosus, Large fontanelles, Brachycephaly, Radio... |
ORPHA:171839 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis |
OMIM:218650 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Scoliosis... |
ORPHA:1727 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Apnea, Polyhydramnios, Craniosynostosis, Vertebral clefting, In... |
OMIM:241500 |
Parastremmatic Dwarfism |
|
Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Hip dislocation, Co... |
OMIM:619451 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Congestive heart failure, Paten... |
OMIM:608328 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hyperextensibility of the finger joints, Patent ductus arteriosus, Cardiomy... |
OMIM:135500 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... |
ORPHA:185 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion |
OMIM:613885 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Flexion contracture, Ankle clonus, Aortic root aneurysm, Atrial septal defect, Talipes valgus |
OMIM:618891 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Joint contracture, Scoliosis |
OMIM:611225 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Flexion contracture... |
OMIM:300718 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... |
OMIM:271530 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ecchymosis, Dislocate... |
ORPHA:287 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, J... |
ORPHA:392 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Osteoporosis, Coarctation of aorta, Small anterior fontanelle, Wide... |
ORPHA:2409 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Lymphedema, Pericardial effusion, Patent ductus arteriosus, ... |
OMIM:239850 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Kyphosis, P... |
OMIM:616294 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Ventricular septal defect, Hip subluxation, Congestive heart failure, Patent ductu... |
ORPHA:444077 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... |
OMIM:619657 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Carpenter Syndrome 1 |
|
Short neck, Brachycephaly, Atrial septal defect, Spina bifida occulta, Genu varum, Sagittal crani... |
OMIM:201000 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Generalized joint laxity, Brachy... |
OMIM:619472 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Joint stiffness, Short neck, Abnormal lung lobation, Abnormal aortic m... |
ORPHA:2516 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Calv... |
ORPHA:1923 |
Trigonocephaly 1 |
|
Metopic synostosis, Lumbar hemivertebrae, Trigonocephaly, Craniosynostosis |
OMIM:190440 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Patent ductus arteriosus, Increased nuchal translucency, Prominent occiput, Aortic ro... |
ORPHA:280633 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Craniosynostosis, Joint hypermobility |
OMIM:616721 |
Summitt Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly |
ORPHA:3210 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Craniosynostosis, Brachycepha... |
OMIM:604757 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Patent ... |
OMIM:130720 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Trigonocephaly, Polyhydramnios, Craniosynostosis, Patent ductus... |
ORPHA:1790 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Otopalatodigital Syndrome, Type Ii |
|
Frontal bossing, Congenital hip dislocation, Wormian bones, Elbow contracture, Kyphoscoliosis, Sh... |
OMIM:304120 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Recurrent pneumonia, Dehydration, Coarctation of aorta, Hypertension, Recurrent b... |
OMIM:616069 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal... |
OMIM:620070 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Osteopenia, Anomalous origin of left coronary artery from the pulmonary art... |
ORPHA:2326 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Wide... |
OMIM:616920 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Frontal bossing, Ventricular septal defect, Craniosynostosis, Dolichocephal... |
OMIM:614114 |
Cockayne Syndrome Type 3 |
|
Kyphosis, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic ro... |
ORPHA:90324 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent respiratory infections, Ventricular septal defect, Joint stiffness, ... |
OMIM:620210 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Delayed closure of th... |
OMIM:619797 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Craniosynostosis, Dolichocephaly, Wid... |
OMIM:182212 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Scoliosis, Mi... |
OMIM:618577 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Sacral dimple, Progressive flexion contractures, Craniosy... |
ORPHA:93932 |
Temtamy Syndrome |
|
Aortic regurgitation, Frontal bossing, Hip dislocation, Aortic aneurysm |
OMIM:218340 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Abnormal respiratory system physiology, Telangiectasia, Coarctation of ao... |
ORPHA:101028 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... |
ORPHA:3405 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplast... |
ORPHA:261311 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Ventricular septal defect, Elbow contracture, Multiple pterygi... |
OMIM:178110 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Recurrent fractures, Coronal craniosynostosis, Reduced bone mineral ... |
OMIM:112240 |
Alg3-Cdg |
|
Osteopenia, Coarctation of the descending aortic arch, Cardiomyopathy, Pulmonary hypoplasia, Arth... |
ORPHA:79321 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, At... |
ORPHA:371428 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Polyhydramnios, Craniosynostosis, Abnormal left ventricular function, ... |
OMIM:301056 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormal heart mor... |
ORPHA:356961 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Kyphoscoliosis, Double aortic arch, Vascular ring |
OMIM:616954 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defect, Craniosyno... |
ORPHA:453499 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Brachycephaly, Aplasia/Hypoplasia of the lungs, Oligohydramnios |
ORPHA:2145 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor... |
OMIM:277950 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Supravalvular aortic stenosis, Ascending tubular ... |
OMIM:219100 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Capitate-hamate fusion, Radial head subluxation, Genu valgum, Knee dislocation, Patellar dislocat... |
OMIM:614078 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Craniotelencephalic Dysplasia |
|
Frontal bossing, Craniosynostosis |
ORPHA:1528 |
Epidermal Nevus Syndrome |
|
Osteopenia, Spinal canal stenosis, Thoracolumbar scoliosis, Aortic aneurysm |
ORPHA:35125 |
Diabetic Embryopathy |
|
Frontal bossing, Ventricular septal defect, Abnormal sacrum morphology, Tetralogy of Fallot, Vert... |
ORPHA:1926 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Craniosynostosis, Patent ductus arterio... |
ORPHA:457193 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Frontal bossing, Ventricular septal defect, Craniosynostosis, Heart murmur, Abnormal vena cava mo... |
ORPHA:166035 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:601370 |
Frontoocular Syndrome |
|
Atrial septal defect, Coronal craniosynostosis, Trigonocephaly, Pulmonic stenosis |
OMIM:605321 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Patent ductus arteriosus, Osteoporosis, Brachycephaly, Ankle clonus, Scoliosis, Lambd... |
OMIM:615398 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Sagittal... |
ORPHA:2872 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Brachycephaly, Plagiocephaly, Joint h... |
ORPHA:1520 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Abnormal sacrum morphology, Brachycephaly, Respiratory insufficien... |
ORPHA:207 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Limited elbow movement, Sagittal craniosynostosis, C... |
OMIM:101200 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Large fontanelles, Respiratory insufficiency, Emphysema |
ORPHA:436 |
Cranioectodermal Dysplasia |
|
Frontal bossing, Craniosynostosis, Osteoporosis, Prominent occiput, Joint hyperflexibility, Dolic... |
ORPHA:1515 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:619343 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Arrhythmia, Camptodactyly |
OMIM:618453 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... |
ORPHA:365 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint mor... |
ORPHA:2655 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hy... |
ORPHA:457395 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi... |
ORPHA:881 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Frontal bossing, Increased bone mineral density, Flat occiput, Hyperlordosis, Facial hyperostosis... |
ORPHA:2780 |
Jackson-Weiss Syndrome |
|
Coronal craniosynostosis, Calcaneonavicular fusion, Midface retrusion, Craniosynostosis |
OMIM:123150 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ... |
ORPHA:477817 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Grange Syndrome |
|
Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hypertension, I... |
OMIM:602531 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, E... |
ORPHA:363705 |
Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotranspositi... |
OMIM:306955 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Large fontanelles, Brach... |
OMIM:603116 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:380 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Congenital hip dislocation, Ventricular septal de... |
ORPHA:2962 |
Macs Syndrome |
|
Joint laxity, Prolonged bleeding time, Dilation of Virchow-Robin spaces, Palpebral edema, Osteopo... |
OMIM:613075 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Abnormal lung lobation, Brachyceph... |
OMIM:265380 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Short neck, Knee flexion con... |
ORPHA:284417 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Dilation of Virchow-Robin spaces, Camptodactyly of finger, Secundum atrial ... |
OMIM:619951 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Frontal bossing, Ventricular septal defect, Cervical kyphosis, Tr... |
OMIM:150250 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Plagiocephaly, Left unicoronal synostosis, Atrial septal defect, Anterior plagiocephaly, Peripher... |
OMIM:614749 |
Noonan Syndrome 3 |
|
Frontal bossing, Ventricular septal defect, Polyhydramnios, Sagittal craniosynostosis, Dolichocep... |
OMIM:609942 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph... |
OMIM:235510 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Polyhydram... |
OMIM:618291 |
Chromosome 10Q26 Deletion Syndrome |
|
Frontal bossing, Lumbar hyperlordosis, Congenital hip dislocation, Craniosynostosis, Short neck, ... |
OMIM:609625 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Vertebral segmentation defect, Scoliosis, Abnormal heart morphology |
ORPHA:531151 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Thanatophoric Dysplasia Type 2 |
|
Frontal bossing, Cloverleaf skull, Polyhydramnios, Kyphosis, Patent ductus arteriosus, Increased ... |
ORPHA:93274 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Tri... |
OMIM:618265 |
Flynn-Aird Syndrome |
|
Joint stiffness, Kyphosis, Bone cyst, Scoliosis, Atherosclerosis |
ORPHA:2047 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Sagittal craniosynostosis, Patellar subluxati... |
OMIM:615879 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Recurrent respiratory infections, Congenital bilateral hip dislocation |
ORPHA:85288 |
Hartsfield Syndrome |
|
Respiratory insufficiency, Craniosynostosis |
ORPHA:2117 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Brachycephaly, Craniosynostosis |
ORPHA:314575 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis |
OMIM:218670 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Kyphoscoliosis, Secundum atrial septal defec... |
ORPHA:1600 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Short neck, Kyphosis, Brachyce... |
ORPHA:254346 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b... |
OMIM:601853 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Lymphedema, Generalized joint laxity,... |
ORPHA:536471 |
Macrocephaly-Developmental Delay Syndrome |
|
Frontal bossing, Palpebral edema, Craniosynostosis, Scaphocephaly, Recurrent pneumonia |
ORPHA:397612 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:1120 |
Bethlem Myopathy 2 |
|
Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal bone ossification |
ORPHA:2645 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... |
ORPHA:2041 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Internal hemorrhage, Abnormal blee... |
ORPHA:286 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Joint stiffness, Kyphosis, Aplasia/Hypoplasia of the lungs, Sco... |
ORPHA:1548 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Patent ductus arteriosus, Flexion contracture |
OMIM:618658 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:607872 |
Craniosynostosis 4 |
|
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... |
OMIM:600775 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Camptodactyly of finger, Multiple pterygia, Limitation of joint mo... |
ORPHA:2990 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Recurrent joint dislocation, Abnormal heart valve morphology, Cervical kyphosi... |
ORPHA:2953 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Wormian bones, Recurrent fractures, Protrusio acetabuli, Severe generalized oste... |
OMIM:259420 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Abnormal heart morphology, Platybasia, Abnormal aortic valve morp... |
ORPHA:261197 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Sacral dimple, Ventricular septal defect, Wide anterior fontanel, Pa... |
OMIM:257920 |
Muenke Syndrome |
|
Capitate-hamate fusion, Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Midface retrusion |
OMIM:602849 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Coarctation of aorta, Prolonged prothrombin time, Pulmonic... |
OMIM:616559 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Increased susceptibility to fractures, Reduced bone mineral density, Joint hype... |
ORPHA:561 |
Pycnodysostosis |
|
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral densit... |
ORPHA:763 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Apnea, Thoracic kyphosis, Aspiration pneu... |
OMIM:602535 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Gm1-Gangliosidosis, Type I |
|
Frontal bossing, Abnormal heart valve morphology, Short neck, Joint stiffness, Kyphosis, Congesti... |
OMIM:230500 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly, Peripher... |
OMIM:614099 |
Chromosome 18Q Deletion Syndrome |
|
Joint laxity, Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septa... |
OMIM:601808 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respiratory insufficiency, Platyspo... |
ORPHA:2771 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Sacral dimple, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Frontal bossing, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Platyspondyly... |
OMIM:616723 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... |
OMIM:115197 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital kyphoscoliosis, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, ... |
ORPHA:536545 |
Aymé-Gripp Syndrome |
|
Pericarditis, Prominent metopic ridge, Craniosynostosis, Pericardial effusion, Patent ductus arte... |
ORPHA:1272 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... |
ORPHA:2114 |
Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries, Scoliosis |
ORPHA:293181 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Scoliosis |
OMIM:613174 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Frontal bossing, Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, Joint hype... |
ORPHA:109 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Frontal bossing, Ventricular septal defect... |
OMIM:309520 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Absence of the sacrum, Atrial septal defect, Right atrial isomerism, ... |
OMIM:270100 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Brachycephaly, Coronal craniosynostosis |
ORPHA:2095 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheeks, Prominent metopic r... |
ORPHA:576 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Wide anterior fontanel, Flexion contracture, Humeroradial synostosis, Brachyceph... |
OMIM:207410 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Joint hypermobility, Oligohydramnios |
OMIM:619056 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... |
OMIM:619351 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Flexion contracture, Craniosynostosis |
OMIM:619076 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis |
OMIM:617087 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis |
OMIM:218550 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... |
OMIM:123500 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Sagittal craniosynostosis, Trig... |
OMIM:618027 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Distal Deletion 10Q |
|
Frontal bossing, Prominent metopic ridge, Lumbar hyperlordosis, Craniosynostosis, Patent ductus a... |
ORPHA:96148 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:352665 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Coarctation of aorta |
ORPHA:280195 |
Fryns Syndrome |
|
Polyhydramnios, Short neck, Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal... |
ORPHA:2059 |
Larsen Syndrome |
|
Large joint dislocations, Craniosynostosis, Accessory carpal bones, Respiratory insufficiency, Jo... |
ORPHA:503 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Osteopenia, Joint laxity, Genu recurvatum, Delayed cranial suture closure, ... |
ORPHA:90348 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio... |
ORPHA:137914 |
Transaldolase Deficiency |
|
Ventricular septal defect, Short neck, Wide anterior fontanel, Patent ductus arteriosus, Asthma, ... |
OMIM:606003 |
Myofibrillar Myopathy 11 |
|
Reduced forced vital capacity, Coarctation of aorta |
OMIM:619178 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Osteoporosis, Scoliosis, Hype... |
OMIM:618234 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis, Coarctation of aorta, Abnormal aortic morpholog... |
ORPHA:2396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:300434 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Pedal edema, Cardiorespiratory arrest... |
ORPHA:228116 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Sco... |
ORPHA:178148 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Recurrent fractures... |
ORPHA:667 |
8P23.1 Microdeletion Syndrome |
|
Short neck, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abn... |
ORPHA:251071 |
Autosomal Recessive Omodysplasia |
|
Frontal bossing, Craniosynostosis, Elbow dislocation, Increased nuchal translucency, Pterygium |
ORPHA:93329 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Cloverleaf skull, Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint mor... |
ORPHA:1860 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Craniosynostosis |
OMIM:614732 |
7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Ventricular septal defect, Tracheomalacia, Short neck, Craniosynostosis, Patent du... |
ORPHA:96121 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Craniosynostosis, Irregular carpal bones, Scoliosis, Shallow acetabular fos... |
OMIM:252600 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Trigonocephaly, Scaphocephaly, Ventricular septal defect, Sagittal craniosynostosis |
OMIM:616901 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art... |
OMIM:601186 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodact... |
ORPHA:83 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Hypoplastic aortic arch, Plagiocephaly, Scoliosis, Joint hypermobility |
ORPHA:457284 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Dislocation of toes, Congenital hip dislocation, Left atrial enlargement... |
OMIM:300280 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Frontal bossing, Osteomy... |
OMIM:259700 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Chronic lung disease, Acute respiratory distress syndrome, Portal hypertension, ... |
OMIM:620005 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... |
OMIM:253010 |
Distal Deletion 15Q |
|
Flat occiput, Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly co... |
ORPHA:1596 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Frontal bossing, Secundum atrial septal defect, Coarctation of aorta, Prolonged prothrombin time,... |
OMIM:614300 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Bicuspid aortic valve, Craniosynostosis, Valvular pulmonary stenosis, Atrial septal... |
OMIM:300707 |
Chromosome 15Q25 Deletion Syndrome |
|
Flat occiput, Ventricular septal defect, Dextrocardia, Short neck, Coronary artery fistula, Abnor... |
OMIM:614294 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, Lymphedema, Pericard... |
ORPHA:2136 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Frontal bossing, Scoliosis |
ORPHA:276630 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta h... |
ORPHA:141127 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Cardiomegaly, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid process, Flat ... |
OMIM:252500 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Trigonocephaly, Sagittal craniosynostosis, Scaphocephaly, Brachycephaly, Camptodactyly, Atrial se... |
ORPHA:459061 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis |
OMIM:617404 |
Robinow-Sorauf Syndrome |
|
Plagiocephaly, Pansynostosis, Craniosynostosis |
OMIM:180750 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Frontal bossing, Craniosynostosis |
OMIM:619873 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Brachycephaly, Coronal craniosynostosis, Calvarial skull defect, Oligohydramnios |
ORPHA:228390 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis |
OMIM:616756 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Ankle swelling, Increased pulmonary vascula... |
ORPHA:275766 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Frontal bossing, Sacral dimple, Lumbar hyperlordosis, Cloverleaf skull, Polyhydramnios, Limited e... |
ORPHA:508533 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:85317 |
Muenke Syndrome |
|
Tarsal synostosis, Brachycephaly, Plagiocephaly, Carpal synostosis, Coronal craniosynostosis |
ORPHA:53271 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:618392 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, Kyphosis, Abnormal ... |
ORPHA:2311 |
Kleefstra Syndrome 2 |
|
Plagiocephaly, Kyphosis, Midface retrusion, Scoliosis |
OMIM:617768 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Scoliosis, Thickened calvaria, Scheuermann-like vertebral changes, Cervical spinal cana... |
OMIM:301900 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Foot joint contracture, Short neck, Mitral valve prolapse, Ascending t... |
ORPHA:444072 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Recurrent aspiration pneumonia, Tricu... |
OMIM:612289 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular s... |
OMIM:618280 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Hypoplastic vertebral bodies, Plagiocephaly, Brachycephaly, Craniosynostosis |
ORPHA:2163 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Trigonocephaly, Patent ductus arteriosus, Flat acetabul... |
OMIM:617159 |
Fetal Akinesia Deformation Sequence 4 |
|
Polyhydramnios, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
3C Syndrome |
|
Frontal bossing, Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral val... |
ORPHA:7 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left a... |
ORPHA:75249 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction |
OMIM:615812 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Sacral dimple, Craniosynostosis, Patent ductus arteriosus, Coarctation of aorta, Mitr... |
ORPHA:363611 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Kyphoscoliosis, Congestive heart failure, Pneumothorax, Hip dislocation,... |
OMIM:617403 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Metopic synostosis,... |
OMIM:620024 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... |
ORPHA:75565 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Frontal bossing, Apnea, Camptodactyly of finger, Craniosynostosis, Joint stiffness, E... |
ORPHA:2462 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Patent ductus arteriosus, Abnormal lung lobation, Brachycephaly, Ab... |
ORPHA:369837 |
Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Sagittal craniosynostosis, Recurrent pneumonia, Decreased nasal nitric oxide, Jo... |
OMIM:614378 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Polyhydramnios, Short n... |
OMIM:213980 |
Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl... |
OMIM:156530 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Short neck, Large fontanelles, Biparietal narrowing,... |
ORPHA:251038 |
1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Patent ductus arteriosus, Joint hyperflexibility, Abnormal cardiac septum morpho... |
ORPHA:250989 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Hip dislocation, Elbow flexion contra... |
ORPHA:75840 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:618237 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Craniosynostosis, Congestive heart failure, Neonatal asphyxia, Hypertension,... |
ORPHA:525731 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Short neck, Kyphosis, Wide anterior fontanel, Limitation of joint mobili... |
ORPHA:3098 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septa... |
ORPHA:567 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Congestive heart failure, Myocarditis, Vasc... |
ORPHA:2331 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... |
OMIM:619040 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Abnormal thoracic spine morphology, Epidural hemorrhage, Epistaxis, Pericardia... |
ORPHA:464329 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Cranial asymmetry, Coarctation of aorta, Hypopho... |
OMIM:163200 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Persistent left s... |
OMIM:618494 |
X-Linked Intellectual Disability, Van Esch Type |
|
Coronal craniosynostosis |
ORPHA:163976 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Turricephaly, Craniosynostosis |
ORPHA:1496 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Hydrocephalus, Edema |
OMIM:617822 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Joint stiffness, Kyphosis, Respiratory insufficiency, Arteriove... |
ORPHA:702 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Joint laxity, Sacral dimple, Recurrent respiratory infections, Bicuspid aortic... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Joint laxity, Sacral dimple, Recurrent respiratory infections, Bicuspid aortic... |
ORPHA:363958 |
3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Limited pronation/supination of forearm, Hip dislocation, Radiou... |
ORPHA:293843 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, C... |
OMIM:616564 |
8Q22.1 Microdeletion Syndrome |
|
Limitation of joint mobility, Camptodactyly of finger, Craniosynostosis, Short neck |
ORPHA:178303 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Delayed epiphyseal ossification, Generalized joint laxity, Multiple joint dislocation, Abnormal c... |
ORPHA:93360 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Joint stiffness, Tracheobronchomalacia, Scoliosis, Atrial septal defect, Ar... |
OMIM:619184 |
Sialidosis Type 2 |
|
Kyphosis, Dyspnea, Flexion contracture, Osteoporosis, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis |
OMIM:616943 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, C... |
ORPHA:3426 |
Meier-Gorlin Syndrome 7 |
|
Joint laxity, Ventricular septal defect, Sagittal craniosynostosis, Craniosynostosis, Heart block... |
OMIM:617063 |
X-Linked Intellectual Disability, Cilliers Type |
|
Coronal craniosynostosis |
ORPHA:163971 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Genu valgum, Scoliosi... |
OMIM:252605 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Alport Syndrome |
|
Dyspnea, Renal glomerular foam cells, Stridor, Hypertension, Abnormal aortic morphology, Cough, R... |
ORPHA:63 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Dolichocephaly |
OMIM:618512 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Joint hyperflexibility |
ORPHA:1875 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia, Craniosynostosis |
ORPHA:2203 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, Scol... |
OMIM:611890 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat... |
OMIM:617821 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Parietal foramina, Kyphosis, Wide... |
ORPHA:85199 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Anterior plagiocephaly, Join... |
OMIM:619718 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Dyspnea, Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atheros... |
ORPHA:565612 |
Acrocraniofacial Dysostosis |
|
Turricephaly, Craniosynostosis, Abnormal form of the vertebral bodies, Genu valgum, Spina bifida ... |
ORPHA:949 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Abnormal heart valve morphology, Ovoid vertebral bodies, Ulnar deviation of the wri... |
OMIM:253000 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arteri... |
OMIM:614857 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Pericardial effusion, Left ventricular hypertrophy, Intrauterine growth reta... |
OMIM:619487 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Frontal bossing, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Sc... |
ORPHA:2181 |
15Q Overgrowth Syndrome |
|
Turricephaly, Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2... |
ORPHA:314585 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor... |
OMIM:605275 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Broad skull, Patent ductus ar... |
ORPHA:163979 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Turricephaly, Cloverleaf skull, Craniosynostosis, Hypertension, Dolichoceph... |
ORPHA:1555 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... |
ORPHA:536516 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosis, Brachycephaly, Abnormal form of... |
ORPHA:794 |
Bent Bone Dysplasia Syndrome 1 |
|
Decreased calvarial ossification, Midface retrusion, Coronal craniosynostosis |
OMIM:614592 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Frontal bossing, Cloverleaf skull, Polyhydramnios, Short neck, Craniosynostosis, Pa... |
OMIM:613610 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Joint laxity, Respiratory failure requiring assisted ventilation, Craniosynostosis, Upper airway ... |
ORPHA:412069 |
Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... |
ORPHA:93323 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Abnormal lung lobation, Hydrops fe... |
ORPHA:3378 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Short neck, Flexion contracture, Hemivertebrae, Abnormal aortic arch morphology, ... |
ORPHA:96334 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... |
ORPHA:261330 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger,... |
ORPHA:352490 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618050 |
Scarf Syndrome |
|
Joint hyperflexibility, Craniosynostosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3134 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... |
OMIM:607155 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Res... |
OMIM:619909 |
Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Short neck, Oxycephaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Ascites |
OMIM:200995 |
Zttk Syndrome |
|
Aortic regurgitation, Frontal bossing, Unilateral lung agenesis, Ventricular septal defect, Crani... |
OMIM:617140 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Short neck, Humeroradial synostosis, Pulmonary hypoplasia, Oligohydramnios |
OMIM:251230 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pericardial effusion, Kyphosis, Osteoarthritis, Osteo... |
ORPHA:77259 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Large fontanelles, Interrupted aortic arch, ... |
OMIM:300712 |
Diastrophic Dysplasia |
|
Joint dislocation, Recurrent respiratory infections, Increased bone mineral density, Camptodactyl... |
ORPHA:628 |
3M Syndrome |
|
Frontal bossing, Congenital hip dislocation, Abnormal cerebral vascular morphology, Hyperlordosis... |
ORPHA:2616 |
Sialidosis Type 1 |
|
Frontal bossing, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Cherry red spot of t... |
ORPHA:812 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Recurrent fractures, Pulmonary embolism, Joint stiffness, Kyphosis, ... |
ORPHA:394 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Sacral dimple, Pulmonary cyst, Kyphosis, Wide anterior fontanel |
OMIM:618272 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Muscular ventricul... |
OMIM:157800 |
Gaucher Disease, Type Ii |
|
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch |
OMIM:230900 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy, Respiratory fa... |
ORPHA:79327 |
3Mc Syndrome 2 |
|
Limited elbow movement, Craniosynostosis, Hip dislocation, Radioulnar synostosis, Abnormality of ... |
OMIM:265050 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Flexion contracture, Restrictive ventilatory defect, Scoliosis, Arthrog... |
OMIM:618484 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Abnormal respiratory system physiology, Scoliosis |
ORPHA:505652 |
Achondroplasia |
|
Frontal bossing, Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Wide anterior fontanel,... |
ORPHA:15 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Wormian bones, Apnea, Abnormality of the wrist, Venous insufficiency, Elbow di... |
ORPHA:285 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Metopic synostosis, Tetr... |
OMIM:618748 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
OMIM:600001 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aor... |
ORPHA:1708 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... |
ORPHA:3097 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Brachycephaly, Scoliosis |
OMIM:615761 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:1064 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:93552 |
Hall-Riggs Syndrome |
|
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis |
OMIM:234250 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine |
ORPHA:48431 |
Pfeiffer Syndrome |
|
Cloverleaf skull, Humeroradial synostosis, Coronal craniosynostosis, Brachyturricephaly, Elbow an... |
OMIM:101600 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Frontal bossing, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Atrioventricular ca... |
OMIM:618929 |
Hamamy Syndrome |
|
Osteopenia, Prolonged QRS complex, Recurrent fractures, Craniosynostosis, Complete atrioventricul... |
OMIM:611174 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Respiratory insufficiency, Scoliosi... |
ORPHA:3191 |
Frontonasal Dysplasia 2 |
|
Craniosynostosis, Parietal foramina, Calvarial skull defect, Brachycephaly, Anterior plagiocephal... |
OMIM:613451 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Flexion contracture, S... |
OMIM:255200 |
Alstrom Syndrome |
|
Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Asthma, Recurrent pneumonia, Hyperten... |
OMIM:203800 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Craniosynostosis |
ORPHA:96097 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
ORPHA:2255 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Metopic depression, Decreased calvarial ossification, Steep acetabular roof, Coronal ... |
ORPHA:313855 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Gm1 Gangliosidosis |
|
Frontal bossing, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:354 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Sacral dimple, Congenital hip dislocation, Ventricular septal d... |
OMIM:609029 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hypertension, Abdominal aortic aneurysm, Congestive heart failure |
OMIM:617253 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Flat occiput, Brachycephaly, Conotruncal defect, Coarctation of aorta, Abno... |
ORPHA:96147 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calcification of the aorta, Plagio... |
ORPHA:51 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
2Q37 Microdeletion Syndrome |
|
Frontal bossing, Short neck, Joint hyperflexibility, Abnormal aortic morphology, Tracheomalacia, ... |
ORPHA:1001 |
Shashi-Pena Syndrome |
|
Dilation of Virchow-Robin spaces, Kyphosis, Patent ductus arteriosus, Osteoporosis, Scoliosis, At... |
OMIM:617190 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Short neck, Parietal foramina, Hip dislocation, Antecubital pterygium, Patellar... |
OMIM:609945 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,... |
OMIM:607326 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Prominen... |
OMIM:164280 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Osteopenia, Joint laxity, Pneumonia, Craniosynostosis, Short neck, Joint st... |
ORPHA:309282 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Ky... |
OMIM:249420 |
Curry-Jones Syndrome |
|
Craniosynostosis |
ORPHA:1553 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Restri... |
OMIM:606612 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Mitral valve pro... |
ORPHA:137834 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Multiple joint contractures, Dextrocardia, Polyhydramnios, C... |
ORPHA:1662 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Joint laxity, Turricephaly, Prominent metopic ridge, Bicuspid aortic valve,... |
OMIM:612474 |
Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Limitation of joint mobility, Flexion co... |
ORPHA:1545 |
Blau Syndrome |
|
Pericarditis, Camptodactyly of finger, Dyspnea, Limitation of joint mobility, Xerostomia, Large v... |
ORPHA:90340 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Arthrogryposis multiplex congenita, Brachycephaly, Scoliosis |
OMIM:615834 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Peripheral arterial... |
ORPHA:412 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Kyphosis, Increased nuchal translucency |
ORPHA:77300 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Patent ductus arteriosus, Flexion ... |
ORPHA:17 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Abnormal lung lobation, Coarctat... |
OMIM:300514 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Limb joint contract... |
ORPHA:93314 |
Scarf Syndrome |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis, Abnormal form of the vertebral bodies, Sho... |
OMIM:312830 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Distal... |
OMIM:254090 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, ... |
ORPHA:98863 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dyspnea, Dilated cardiomyopathy, Respi... |
OMIM:615084 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... |
OMIM:153400 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Flat acetabular roof, Respiratory insufficiency, Pulmonary hypoplasia, ... |
OMIM:616300 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Flat occiput, Cloverleaf skull, Craniosynostosis, Hypertension, Limited elb... |
OMIM:123790 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Abnormal verteb... |
OMIM:218600 |
Carpenter Syndrome 2 |
|
Frontal bossing, Tricuspid regurgitation, Dextrocardia, Trigonocephaly, Short neck, Situs inversu... |
OMIM:614976 |
Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Ventr... |
ORPHA:33364 |
Perlman Syndrome |
|
Ascites, Polyhydramnios, Interrupted aortic arch, Edema |
OMIM:267000 |
Mosaic Trisomy 1 |
|
Frontal bossing, Thoracic scoliosis, Ventricular septal defect, Camptodactyly of finger, Polyhydr... |
ORPHA:1692 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... |
ORPHA:98853 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Joint hyperflexibility |
ORPHA:319199 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Recurrent respiratory infections, Short neck, Kyphosis, Arthritis, Sco... |
ORPHA:61 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Brachycephaly, Abnormality of the wrist, Abnormal vertebral morphology, Elbo... |
ORPHA:95699 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Frontal bossing, Abnormal heart valve morphology, Camptodactyly of finger, ... |
ORPHA:1606 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy |
OMIM:212065 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Arthrogryposis, Distal, Type 5 |
|
Limited wrist extension, Reduced forced expiratory volume in one second, Kyphosis, Restrictive ve... |
OMIM:108145 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short... |
OMIM:183900 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Typical Nemaline Myopathy |
|
Polyhydramnios, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Hip di... |
ORPHA:171436 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Kyphosis, Brachycephaly, Dolichocephaly |
OMIM:615433 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Brachycephaly, Contracture of the ... |
OMIM:618223 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Frontal bossing, Ventricular septal defect, Craniosynostosis |
OMIM:250410 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... |
ORPHA:98855 |
Pfeiffer Syndrome Type 1 |
|
Brachycephaly, Bicoronal synostosis, Midface retrusion |
ORPHA:93258 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Kyphosis, Osteoarthritis, Mitral valve prolapse, Arthritis, Platysp... |
OMIM:108300 |
Seckel Syndrome |
|
Joint hyperflexibility, Craniosynostosis, Scoliosis |
ORPHA:808 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Frontal bossing, Recurrent respiratory infections, Neonatal respiratory dis... |
OMIM:616268 |
Clark-Baraitser syndrome |
|
Joint laxity, Frontal bossing, Genu recurvatum, Kyphosis, Genu valgum, Scoliosis |
OMIM:300602 |
Poems Syndrome |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:2905 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density |
ORPHA:2617 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Ulnar deviation of th... |
OMIM:177170 |
Mgat2-Cdg |
|
Abnormal bleeding, Osteopenia, Respiratory distress, Ventricular septal defect, Dolichocephaly, K... |
ORPHA:79329 |
Cole-Carpenter Syndrome |
|
Frontal bossing, Turricephaly, Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodi... |
ORPHA:2050 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Neonatal respiratory distress, Phalangeal dislocation, Hyperlord... |
OMIM:251450 |
X-Linked Hypophosphatemia |
|
Frontal bossing, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Scoliosis, Atrial septal defect, M... |
OMIM:617061 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Joint laxity, Thoracic scoliosis, Congenital hip dislocation, Ventri... |
ORPHA:508488 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Degcags Syndrome |
|
Osteopenia, Sacral dimple, Tachycardia, Ventricular septal defect, Pneumonia, Polyhydramnios, Tra... |
OMIM:619488 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Ventricular septal defect, Hyperlordosis, Sho... |
ORPHA:2789 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Kyphosis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Dist... |
OMIM:609128 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, Osteoporosis, Hip... |
OMIM:616507 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... |
OMIM:313400 |
Tangier Disease |
|
Accelerated atherosclerosis, Coronary artery stenosis, Left ventricular hypertrophy, Carotid arte... |
ORPHA:31150 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Genu recurvatum, Recurrent fractures, Phalangeal dis... |
OMIM:130070 |
Dubowitz Syndrome |
|
Sacral dimple, Craniosynostosis, Wide anterior fontanel, Asthma, Respiratory insufficiency, Joint... |
ORPHA:235 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Coarctati... |
ORPHA:2008 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Polyhydramnios, Flexion contracture, Aortic isthmus hypoplasia, Atrial sept... |
OMIM:180849 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... |
ORPHA:352447 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent... |
OMIM:618164 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Frontal bossing, Hyperextensibility at elbow, Lumbar hyperlordosis, Transient ischemic attack, Un... |
ORPHA:500150 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Short neck, Patent ductus arteriosus, Coarctation of aorta... |
OMIM:600268 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Dyspnea, Pulm... |
ORPHA:261494 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Sacral dimple, Tricuspid regurgitation, Hypoplastic right heart, Ventricular sep... |
OMIM:616894 |
Congenital Myopathy 22A, Classic |
|
Frontal bossing, Thoracic scoliosis, Tricuspid regurgitation, Hip contracture, Polyhydramnios, Sp... |
OMIM:620351 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Increased bone mineral density, Hyperlordosis, Short neck, K... |
ORPHA:1798 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Apnea, Fetal ascites, Ascending aorta hypoplasia, Multip... |
OMIM:619503 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Kyphosis, Biparietal narrowing, Scoliosis, Atrial septal defect |
ORPHA:261190 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Tricuspid regurgitation, Polyhydramnios, Kyphoscoliosis, Patent ductus arteriosus, At... |
OMIM:614557 |
Proteus Syndrome |
|
Sudden cardiac death, Lymphedema, Pulmonary embolism, Kyphosis, Joint stiffness, Craniosynostosis... |
ORPHA:744 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbit... |
ORPHA:904 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy |
ORPHA:300751 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Short neck, Kyphosis, Large fontanelles, Scoliosis |
ORPHA:238750 |
Osteoglophonic Dysplasia |
|
Osteopenia, Frontal bossing, Respiratory distress, Cloverleaf skull, Camptodactyly of finger, Cra... |
OMIM:166250 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Frontal bossing, Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Mitra... |
OMIM:617260 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:816 |
Craniofrontonasal Syndrome |
|
Joint laxity, Frontal bossing, Short neck, Brachycephaly, Scoliosis, Coronal craniosynostosis, Ax... |
OMIM:304110 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Thoracolumbar scoliosis, Sagittal craniosynostosis, Portal hypertension, Wide anterio... |
OMIM:610199 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Craniosynostosis, Hip dislocation, Elbow flexion contracture, Patellar h... |
ORPHA:3132 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Short neck, Wide anterior fontanel, Patent ductus arteriosus, Coar... |
ORPHA:3338 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Polyhydramnios, Short neck, Kyphosis, Achilles tendon contracture, Flexion contr... |
OMIM:301041 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect,... |
ORPHA:353281 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea, Dilated card... |
OMIM:614921 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Birth l... |
OMIM:139210 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... |
ORPHA:781 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi... |
OMIM:300166 |
Alg9-Cdg |
|
Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fetalis, Abnormal heart morp... |
ORPHA:79328 |
Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Craniosynostosis, Scaphocephaly, Elbow flexion contracture, Knee flexion contractu... |
OMIM:600920 |
Charge Syndrome |
|
Aortic arch aneurysm, Polyhydramnios, Patent ductus arteriosus, Hemivertebrae, Respiratory insuff... |
ORPHA:138 |
Craniosynostosis And Dental Anomalies |
|
Frontal bossing, Prominent metopic ridge, Flat occiput, Turricephaly, Sagittal craniosynostosis, ... |
OMIM:614188 |
Spondyloenchondrodysplasia |
|
Pneumonia, Raynaud phenomenon, Kyphosis, Vasculitis, Hypertension, Platyspondyly, Arthritis, Juve... |
ORPHA:1855 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal c... |
ORPHA:582 |
Sotos Syndrome |
|
Joint laxity, Sacrococcygeal teratoma, Hip contracture, Ventricular septal defect, Ankle flexion ... |
ORPHA:821 |
Atelis Syndrome 2 |
|
Frontal bossing, Sacral dimple, Kyphosis, Patent ductus arteriosus, Dyspnea, Supravalvar pulmonar... |
OMIM:620185 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Edema, Hip dislocation, Coarctation of aorta, Hypertension, Camptodactyly, Midfa... |
OMIM:617729 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Radial head subluxation, Hemivertebrae, Hip ... |
OMIM:146510 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:617435 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Frontal bossing, Central apnea, Lumbar hyperlordosis, Kyphosis, Congestive ... |
OMIM:616482 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Conge... |
OMIM:314580 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Autosomal Recessive Robinow Syndrome |
|
Frontal bossing, Sacral dimple, Recurrent respiratory infections, Ventricular septal defect, Abno... |
ORPHA:1507 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Frontal bossing, Apnea, Polyhydramnios, Increased nuchal translucency, Abno... |
ORPHA:1052 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Wide anteri... |
OMIM:610915 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Joint hyperflexibility |
OMIM:614898 |
Slc39A8-Cdg |
|
Osteopenia, Sudden episodic apnea, Craniosynostosis, Elbow flexion contracture, Knee flexion cont... |
ORPHA:468699 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Coarctation of aorta, Bifid thoracic vertebrae, Trach... |
ORPHA:268249 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Chronic bronchitis... |
OMIM:253220 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Frontal bossing, Prominent metopic ridge, Recurrent respiratory infections, Edema, Sh... |
OMIM:266920 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:614409 |
Marden-Walker Syndrome |
|
Dextrocardia, Short neck, Kyphosis, Wide anterior fontanel, Congenital contracture, Radioulnar sy... |
OMIM:248700 |
Occipital Horn Syndrome |
|
Joint laxity, Orthostatic hypotension, Persistent open anterior fontanelle, Kyphosis, Capitate-ha... |
OMIM:304150 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Doors Syndrome |
|
Respiratory distress, Frontal bossing, Polyhydramnios, Sagittal craniosynostosis, Hemivertebrae, ... |
ORPHA:79500 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Polyhydramnios, Hydrops fetalis, Coarctation of aorta, Platyspond... |
ORPHA:50945 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Decreased skull ossification, Patent ductus arteriosus, Osteoporosis, Joi... |
ORPHA:955 |
Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Craniosynostosis, Short neck, Camptodactyly, Joint contracture of the hand |
OMIM:608156 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness,... |
OMIM:607015 |
Digeorge Syndrome |
|
Pilonidal sinus, Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Chronic pulmon... |
OMIM:188400 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Prominent metopic ridge, Multiple joint contractures, Camptodactyly of finger, Ankle flexion cont... |
ORPHA:468631 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios... |
ORPHA:1199 |
Roberts Syndrome |
|
Progressive flexion contractures, Polyhydramnios, Short neck, Craniosynostosis, Patellar aplasia,... |
ORPHA:3103 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Facial edema, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:3219 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Hypertension, Pulmonary l... |
ORPHA:805 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Abnormal heart valve morphology, Abnormal pulmonary valve morph... |
ORPHA:580 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Aortic regurgitation, Joint laxity, Osteomyelitis, Bicuspid aortic valve, Ventricular ... |
OMIM:619475 |
Branchioskeletogenital Syndrome |
|
Thickened calvaria, Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscoliosis,... |
ORPHA:1299 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Oligoh... |
OMIM:615846 |
Pseudoaminopterin Syndrome |
|
Frontal bossing, Limited elbow movement, Sagittal craniosynostosis, Dolichocephaly, Sacrococcygea... |
ORPHA:221120 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl... |
ORPHA:217085 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Delayed cranial suture closure, Venous insufficiency, Kyphosis, Osteopo... |
ORPHA:198 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Hemivertebrae, C... |
OMIM:264480 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, In... |
OMIM:619534 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Prominent metopic ridge, Palpebral edema, Scoliosis |
ORPHA:261144 |
Tetrasomy 9P |
|
Joint dislocation, Sacral dimple, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardi... |
ORPHA:3310 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Joint stiffness, Short neck, ... |
ORPHA:583 |
Schaaf-Yang Syndrome |
|
Frontal bossing, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiple... |
OMIM:615547 |
Pagod Syndrome |
|
Sudden cardiac death, Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morpho... |
ORPHA:991 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Hip dislocation, Scoliosis |
ORPHA:464282 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl... |
ORPHA:217093 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Osteoporosis, Flexion contrac... |
ORPHA:3409 |
Curry-Jones Syndrome |
|
Wormian bones, Bicoronal synostosis, Unicoronal synostosis |
OMIM:601707 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Patent ductus arteriosus, Coarctation of aorta, Plagiocephaly, Scoliosis, Dolich... |
OMIM:619480 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Turricephaly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral seg... |
ORPHA:1005 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
Ruvalcaba Syndrome |
|
Kyphosis, Limited elbow extension, Scoliosis |
OMIM:180870 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion contr... |
OMIM:265000 |
Saethre-Chotzen Syndrome |
|
Parietal foramina, Oxycephaly, Brachycephaly, Abnormal heart morphology, Plagiocephaly, Radioulna... |
OMIM:101400 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Kyphosis, Osteoporosis, Hypertension, Biconcave vertebral bodies, Ecchymosis, Vertebral co... |
OMIM:219090 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short neck, Parietal foramina, Congestive heart fa... |
OMIM:105650 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Brachycephaly, Scoliosis |
ORPHA:236 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia of the skin, Kyphosis, Osteoporosis, Scoliosis, Joint contracture |
OMIM:615381 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Craniosynostosis, Brachycephaly, Proboscis |
OMIM:605627 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Kyphosis, Recurrent pneumonia, Scoliosis, Left superior vena cava drai... |
ORPHA:464738 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Dyspnea, Pate... |
ORPHA:2554 |
Mucopolysaccharidosis, Type Ii |
|
Abnormal heart valve morphology, Short neck, Kyphosis, Congestive heart failure, Flexion contract... |
OMIM:309900 |
Hurler Syndrome |
|
Aortic regurgitation, Frontal bossing, Recurrent respiratory infections, Short neck, Joint stiffn... |
OMIM:607014 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Thoracic scoliosis, Cervical hemivertebrae, Bicuspid aortic valve, Ventricu... |
ORPHA:508498 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Kyphosis, Scoliosis, Abnormal pattern of respiration |
ORPHA:3095 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
OMIM:211530 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Polyhydramnios, Kyphosis, Dyspnea, Plagiocephal... |
ORPHA:2215 |
Lymphangioleiomyomatosis |
|
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thickened calvaria, Joint laxity, Frontal bossing, Ventricular septal defect, Left ventricular no... |
OMIM:300967 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
ORPHA:167 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Atrial septal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Atrial septal ... |
ORPHA:353277 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic... |
OMIM:223800 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... |
ORPHA:2062 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Kyphosis, Brachycephaly, Abnormal heart morphology, Scoliosis |
ORPHA:404440 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis |
OMIM:618124 |
Pelger-Huet Anomaly |
|
Kyphosis, Frontal bossing, Ventricular septal defect |
OMIM:169400 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Abnormal internal carotid artery morphology, Abnormal lung morphology, Cerebral arter... |
ORPHA:97685 |
Peters-Plus Syndrome |
|
Joint laxity, Frontal bossing, Ventricular septal defect, Polyhydramnios, Short neck, Limited elb... |
OMIM:261540 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility |
OMIM:219080 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Frontal bossing, Recurrent respiratory infections, Bicuspid aortic valve, Sagittal ... |
OMIM:218330 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility |
OMIM:610475 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
15q26 overgrowth syndrome |
|
Camptodactyly of finger, Craniosynostosis, Short neck, Abnormal joint morphology, Scoliosis, Join... |
DECIPHER:81 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Lower-limb joint contracture, Ventricular septal defect, Tracheomalacia |
ORPHA:513456 |
Holoprosencephaly |
|
Frontal bossing, Flat occiput, Ventricular septal defect, Abnormal pulmonary valve morphology, Sh... |
ORPHA:2162 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Polyhydramnios, Short neck, Kyphosis, Mitral valve prolapse, Pulmonic steno... |
OMIM:619745 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Craniosynostosis, Flexion contracture, Brachycephaly, Scoliosis, Camptodactyly, Trigonocephaly |
OMIM:309590 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Frontal bossing, Ventricular septal defect, Kyphoscoliosis, Hemivertebr... |
ORPHA:97360 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Frontal bossing, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosi... |
OMIM:618019 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Frontal bossing, Short neck |
ORPHA:3082 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, Cleft verte... |
ORPHA:83617 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Kyphosis, Scoliosis, Abnormal heart morphology |
ORPHA:94065 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Frontal bossing, Persistent open anterior fontanelle, Increased bone minera... |
OMIM:119600 |
Catel-Manzke Syndrome |
|
Joint dislocation, Joint laxity, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Trisomy 20P |
|
Frontal bossing, Camptodactyly of finger, Short neck, Kyphosis, Brachycephaly, Abnormal form of t... |
ORPHA:261318 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Atrial septal defect, Joint laxity, Porta... |
OMIM:194050 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Plagiocephaly, Craniosynostosis |
ORPHA:1521 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Kyphosis, Dilated cardiomyopathy, Mitral regurgitatio... |
ORPHA:261250 |
Schwartz-Jampel Syndrome |
|
Apnea, Polyhydramnios, Short neck, Wrist flexion contracture, Abnormally ossified vertebrae, Incr... |
ORPHA:800 |
Marinesco-Sjogren Syndrome |
|
Cubitus valgus, Kyphosis, Flexion contracture, Scoliosis |
OMIM:248800 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Ventricular septal defect, Kyphoscoliosis, Lymphedema, Short neck, Patent duct... |
OMIM:163950 |
Mullegama-Klein-Martinez Syndrome |
|
Frontal bossing, Coarctation of aorta, Hypoplastic left heart, Apical muscular ventricular septal... |
OMIM:301022 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Delayed cranial suture closure, Delayed closure of the an... |
OMIM:278250 |
Baralle-Macken Syndrome |
|
Kyphosis |
OMIM:619255 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Polyhydramnios, Patent ductus arteriosus, Aplasia of the epiglottis, Coarct... |
OMIM:617088 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
Fucosidosis |
|
Kyphosis, Brachycephaly, Anterior beaking of lumbar vertebrae, Cardiomegaly |
ORPHA:349 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Hip dislocation, Abnormal lung lobation, Pulmonary hypoplasi... |
ORPHA:958 |
Ruvalcaba Syndrome |
|
Kyphosis, Abnormality of the elbow, Scoliosis, Abnormal vertebral epiphysis morphology, Synostosi... |
ORPHA:3121 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Aortic regurgitation, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip ... |
OMIM:106300 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Genu recurvatum, Kyphosis, Brachycephaly, Scoliosis |
ORPHA:364028 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Prominent metopic ridge, Camptodactyly of... |
ORPHA:261349 |
Cono-Spondylar Dysplasia |
|
Polyhydramnios, Short neck, Kyphosis, Scoliosis, Midface retrusion |
ORPHA:420794 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis |
OMIM:181405 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis |
ORPHA:79396 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... |
OMIM:618476 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Kypho... |
ORPHA:464311 |
Charge Syndrome |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atria... |
OMIM:214800 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Kyphosis |
OMIM:300354 |
Coffin-Lowry Syndrome |
|
Frontal bossing, Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Join... |
ORPHA:192 |
Gabriele-De Vries Syndrome |
|
Craniosynostosis, Ebstein anomaly of the tricuspid valve, Patellar subluxation, Distal arthrogryp... |
ORPHA:506358 |
Alagille Syndrome 1 |
|
Frontal bossing, Butterfly vertebral arch, Ventricular septal defect, Hemivertebrae, Coarctation ... |
OMIM:118450 |
Weaver Syndrome |
|
Flat occiput, Kyphosis, Patent ductus arteriosus, Scoliosis, Camptodactyly, Limited knee extensio... |
OMIM:277590 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s... |
ORPHA:1724 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Ventricular septal defect, Patent ductus arteriosus, Hemivertebrae, Coarctation ... |
OMIM:164210 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Short neck, Ankle flexion contracture, Craniosynostosi... |
OMIM:268300 |
Fanconi Anemia |
|
Frontal bossing, Dolichocephaly, Patent ductus arteriosus, Hip dislocation, Reduced bone mineral ... |
ORPHA:84 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irregular vertebral endplates... |
OMIM:271700 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosi... |
OMIM:259770 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Cloverleaf skull, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, ... |
OMIM:201750 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Kyphosis, Hip dislocation, Joint hyperflexibility, Verte... |
ORPHA:96169 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility |
OMIM:610489 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty |
ORPHA:91347 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Kyphosis, Recurrent pneumonia, Scoliosis, Atrial septal defect, Pulmon... |
OMIM:616449 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu ... |
OMIM:618493 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Kyphosis, Joint hyperflexibility, Scoliosis, Genu varum |
ORPHA:2479 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Short neck, Kyphosis, Joint hyperflexibility, Biparietal narrowing, Scol... |
ORPHA:85293 |
2Q31.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Trigonocephaly, Shor... |
ORPHA:251014 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Hip dislocation, R... |
ORPHA:140 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Kyphosis, Scoliosis, Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Gitelman Syndrome |
|
Pericardial effusion, Delayed puberty |
ORPHA:358 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Genu valgum, Scoliosis |
OMIM:618443 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Asthma, Flexion contracture, Brachycephaly, Plagiocephaly, Scoliosis |
ORPHA:500055 |
Hardikar Syndrome |
|
Ventricular septal defect, Thoracolumbar scoliosis, Portal hypertension, Hematemesis, Pulmonary a... |
OMIM:301068 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Ankylosis, Osteoporosi... |
OMIM:239000 |
Floating-Harbor Syndrome |
|
Joint laxity, Prominent metopic ridge, Ivory epiphyses of the distal phalanges of the hand, Kypho... |
OMIM:136140 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis |
OMIM:601374 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Kyphosis, Patent du... |
ORPHA:464306 |
Alexander Disease |
|
Osteopenia, Frontal bossing, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Respirato... |
ORPHA:58 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Kyphosis, Pulmonic stenosis, Camptodactyly, Atrioventricular canal defect |
OMIM:619123 |
Hartsfield Syndrome |
|
Craniosynostosis, Hypoplasia of the frontal bone |
OMIM:615465 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis, Midface retrusion, Hip subluxation |
OMIM:619557 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Hemivertebrae, Perimembranous ventricular se... |
OMIM:301040 |
Monosomy 9Q22.3 |
|
Short neck, Kyphosis, Cardiac fibroma, Joint hyperflexibility, Abnormality of the vertebral colum... |
ORPHA:77301 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Neonatal respiratory distress, Decreased heart rate variability, Kyphosis, Plagi... |
OMIM:619005 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Joint hypermobility, Scoliosis, Joint stiffness |
OMIM:617988 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Flexion contr... |
ORPHA:261537 |
Wolf-Hirschhorn Syndrome |
|
Frontal bossing, Sacral dimple, Recurrent respiratory infections, Abnormal heart valve morphology... |
ORPHA:280 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Thickened calvaria, Increased bone mineral density, Kyphosis, Cranial hyperostosis, Limitation of... |
ORPHA:2658 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Frontal bossing, Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnorm... |
ORPHA:261552 |
Harrod Syndrome |
|
Kyphosis, Scoliosis, Joint hyperflexibility |
ORPHA:2115 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:181000 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Brachycephaly |
OMIM:619244 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Polyhydramnios, Short neck, Kyphosis, Patent ductus arteriosus, Increa... |
ORPHA:818 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Flexion contracture, Scoliosis |
ORPHA:90322 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Midface retrusion, Scoliosis, Aspiration |
OMIM:613454 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Increase... |
ORPHA:2769 |
Prader-Willi Syndrome |
|
Osteopenia, Hypoventilation, Recurrent respiratory infections, Polyhydramnios, Kyphosis, Osteopor... |
OMIM:176270 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Kyphosis, Arterial stenosis, Genu valgum, Hypertension, Sco... |
ORPHA:636 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Recurrent respiratory infections, Kyphosis, Flexion contracture, Xerostomia, Osteopor... |
ORPHA:398069 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Kyphosis, Scoliosis |
ORPHA:88644 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia, Abnormal respiratory system physiology, Cough |
ORPHA:97349 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Flat occiput, Short neck, Kyphosis, Prominent protruding coccyx, Promi... |
OMIM:300966 |
Cohen Syndrome |
|
Ventricular septal defect, Kyphosis, Mitral valve prolapse, Genu valgum, Joint hyperflexibility, ... |
ORPHA:193 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Apnea, Edema of the dorsum ... |
ORPHA:521426 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Pulmonary hypoplasia,... |
OMIM:619708 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte... |
ORPHA:3042 |
Cockayne Syndrome A |
|
Thickened calvaria, Hip contracture, Kyphosis, Limitation of joint mobility, Ivory epiphyses of t... |
OMIM:216400 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Abnormal cardiac septum morphology, Scoliosis |
ORPHA:2075 |
Camurati-Engelmann Disease |
|
Frontal bossing, Hyperlordosis, Kyphosis, Craniofacial osteosclerosis, Limitation of joint mobili... |
ORPHA:1328 |
Cockayne Syndrome |
|
Kyphosis, Retinal hemorrhage, Hypertension, Contractures of the large joints, Retinal arteriolar ... |
ORPHA:191 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Edema, Kyphosis, Respiratory insufficiency, Contractures of the large joints |
OMIM:617527 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Wide anterior fontanel, Abnormal heart morphology, Aortic valve stenosis... |
ORPHA:401973 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Anterior concavity of thoracic vertebrae, Polyhydramnio... |
OMIM:216340 |
Micro Syndrome |
|
Kyphosis, Scoliosis, Joint stiffness |
ORPHA:2510 |
Igg4-Related Kidney Disease |
|
Pericarditis, Abnormal lung morphology, Pedal edema, Interstitial pneumonitis, Abnormal aortic mo... |
ORPHA:449395 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Kyphosis |
OMIM:300942 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Frontal bossing, Sacral dimple, Recurrent respiratory infections, Ventricular septa... |
OMIM:135900 |
Microphthalmia, Lenz Type |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:568 |
Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Sinusitis, Osteomyelitis, Pneumonia, Lymphocytic interstitial pneumonia, Respi... |
ORPHA:2968 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Joint stiffness, Situs inversus... |
ORPHA:2461 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Kyphosis, Congestive hear... |
OMIM:615512 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Stickler Syndrome |
|
Joint dislocation, Recurrent respiratory infections, Protrusio acetabuli, Kyphosis, Osteoarthriti... |
ORPHA:828 |
Aspartylglucosaminuria |
|
Joint laxity, Recurrent respiratory infections, Kyphosis, Brachycephaly, Platyspondyly, Mitral re... |
OMIM:208400 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Midface retrusion |
OMIM:609944 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Complete atrioventricular canal defect, Scoliosis |
ORPHA:476126 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Small anterior fontanelle, Aortic valve stenosis, Midface retrusion |
OMIM:300960 |
X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Brachycephaly, Camptodactyly, Cerebr... |
ORPHA:3063 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Limitation of joint mobility, Metop... |
ORPHA:457359 |
Microphthalmia, Syndromic 6 |
|
Plagiocephaly, Brachycephaly, Lambdoidal craniosynostosis, Midface retrusion |
OMIM:607932 |
Oculocerebrorenal Syndrome Of Lowe |
|
Frontal bossing, Recurrent respiratory infections, Flat occiput, Osteomalacia, Recurrent fracture... |
ORPHA:534 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Lumbar hyperlordosis, Flat occiput, Kyphosis, Osteoporosis, Contracture of the proxim... |
ORPHA:2232 |
Poland Syndrome |
|
Dextrocardia, Short neck, Kyphosis, Hemivertebrae, Finger symphalangism, Reduced bone mineral den... |
ORPHA:2911 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Frontal bossing, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:617011 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Kyphosis, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, As... |
OMIM:619482 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Genu ... |
OMIM:619194 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Kyphosis, Neonatal respiratory distress, Ventricular septal defect |
ORPHA:1393 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis |
OMIM:615108 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis |
OMIM:615109 |
Multiple Endocrine Neoplasia, Type Iib |
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Joint laxity, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Aortic regurgitation, Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morpholo... |
ORPHA:268261 |
Acromegaly |
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Frontal bossing, Palpebral edema, Kyphosis, Osteoarthritis, Spinal canal stenosis, Hypertension, ... |
ORPHA:963 |
Somatomammotropinoma |
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Frontal bossing, Palpebral edema, Kyphosis, Osteoarthritis, Spinal canal stenosis, Hypertension, ... |
ORPHA:314769 |
Cowden Syndrome 1 |
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Kyphosis, Scoliosis |
OMIM:158350 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Delayed closure of the anterior fontanelle, Kyphosis, Lu... |
OMIM:303600 |
Ramon Syndrome |
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Kyphosis, Juvenile rheumatoid arthritis, Scoliosis, Telangiectasia |
OMIM:266270 |
Cockayne Syndrome B |
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Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the han... |
OMIM:133540 |
Orofaciodigital Syndrome Iii |
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Kyphosis |
OMIM:258850 |
Lowe Oculocerebrorenal Syndrome |
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Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v... |
OMIM:309000 |
Wolf-Hirschhorn Syndrome |
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Vertebral fusion, Sacral dimple, Ventricular septal defect, Kyphosis, Hip dislocation, Abnormal f... |
OMIM:194190 |
Spondyloepiphyseal Dysplasia Tarda |
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Abnormal cartilage morphology |
ORPHA:93284 |
Pmm2-Cdg |
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Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Hypertrophic cardiomyopathy |
ORPHA:79318 |
Cowden Syndrome |
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Kyphosis, Bone cyst, Scoliosis, Mucosal telangiectasiae |
ORPHA:201 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Ant... |
OMIM:300106 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Ankle clonus, Kyphosis |
ORPHA:171629 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Frontal bossing, Recurrent respiratory infections, Camptodactyly of finger, Kyphosis, Platyspondy... |
ORPHA:2273 |
Primrose Syndrome |
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Hip contracture, Joint hypermobility, Kyphosis, Flexion contracture, Osteoporosis, Brachycephaly,... |
OMIM:259050 |
Branchiooculofacial Syndrome |
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Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Fusion of middle ear ossicles, Do... |
OMIM:113620 |
Alström Syndrome |
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Respiratory distress, Thoracic scoliosis, Portal hypertension, Kyphosis, Congestive heart failure... |
ORPHA:64 |
Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
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OMIM:132800 |