| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... |
OMIM:135580 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... |
OMIM:619825 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Osteoarthritis, Bronchiectasis, Ascending aortic dissection, Bruisi... |
OMIM:620080 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Joint hyperflexibility, Transp... |
ORPHA:261243 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Hyperextensibility of the finger joints, Genu recurvatum, Situs inversus to... |
OMIM:609008 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Aortic root aneurysm, Transposition ... |
OMIM:619910 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform asc... |
OMIM:617168 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Scoliosis, Aortic aneurysm |
OMIM:604308 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Short neck, Brachycephaly, Knee flexion contracture, Atrial se... |
OMIM:121050 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Igg4-Related Aortitis |
|
Low back pain, Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubul... |
ORPHA:449400 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
| Loeys-Dietz Syndrome 4 |
|
Joint laxity, Bicuspid aortic valve, Protrusio acetabuli, Arterial tortuosity, Dolichocephaly, Pn... |
OMIM:614816 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Pu... |
ORPHA:199241 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Scoliosis, C... |
OMIM:301039 |
| Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H... |
ORPHA:2038 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Prominent superficial veins, Carotid artery stenosis, Short neck,... |
OMIM:618000 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Central hypoventilation, Mit... |
ORPHA:171881 |
| Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Patent ductus arteriosu... |
ORPHA:98892 |
| Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Ventricular septal defect, Sagittal craniosynostosis, Aortic root aneurysm, Pulm... |
OMIM:145420 |
| Aortic Valve Disease 2 |
|
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 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Distal joint laxity, Generalized joint laxity,... |
ORPHA:1900 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial e... |
ORPHA:1054 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocardial infarction, Pulmonary artery stenosis, Dilated cardiomyopathy, C... |
ORPHA:3342 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Multiple joint dislocation, Repeat... |
ORPHA:536467 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... |
ORPHA:860 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Loeys-Dietz Syndrome |
|
Abnormal bleeding, Joint dislocation, Cardiac arrest, Craniosynostosis, Arterial tortuosity, Camp... |
ORPHA:60030 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Joint dislocation, Tricuspid regurgitation, Left ventricular hypertrophy, T... |
ORPHA:230851 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp... |
ORPHA:99094 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity... |
ORPHA:284984 |
| Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Frontal bossing, Kyphoscoliosis, Hip dislocation, Advanced ossification... |
OMIM:615349 |
| Boudin-Mortier Syndrome |
|
Joint laxity, Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
| Meester-Loeys Syndrome |
|
Joint dislocation, Frontal bossing, Joint hypermobility, Dolichocephaly, Cervical spine instabili... |
OMIM:300989 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity,... |
OMIM:609192 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Ventricular septal defect, Repeated pneumothoraces, Kyphosis, Coarctation of aor... |
OMIM:617602 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Kyphoscoliosis, Supraventricular tachycardia with an accessory connectio... |
ORPHA:404443 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... |
OMIM:613795 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Craniosynostosis, Kyphosis, Scaphocephaly, Mitral valve ... |
OMIM:616914 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Ciliary Dyskinesia, Primary, 40 |
|
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 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Cough, Recurrent pharyngitis, Abn... |
ORPHA:397 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Sacral dimple, Craniosynostosis, Short neck, Patent ductus arteriosus, Dolichoce... |
ORPHA:1516 |
| Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
| Loeys-Dietz Syndrome 6 |
|
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 |
|
Osteopenia, Bicuspid aortic valve, Short neck, Cardiomegaly, Multiple joint dislocation, Brachyce... |
OMIM:245600 |
| Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Joint laxity, Carotid artery dissection, Pulmonary... |
OMIM:208050 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Carotid... |
ORPHA:536532 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Hypermobility ... |
OMIM:130050 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... |
ORPHA:3287 |
| Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Kyphoscoliosis, Osteoarthritis, Brachycephaly, Cervical spine instabil... |
OMIM:615582 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Talipes val... |
OMIM:616652 |
| Familial Bicuspid Aortic Valve |
|
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 |
|
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 |
|
Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
| Summitt Syndrome |
|
Oxycephaly, Craniosynostosis |
OMIM:272350 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
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 |
|
Craniosynostosis |
OMIM:109050 |
| Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis |
ORPHA:1527 |
| X Small Rings |
|
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 |
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