Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:1296 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Nephrosialidosis |
|
Bone-marrow foam cells, Pericardial effusion, Ascites |
OMIM:256150 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Atrioventricular block, Vent... |
OMIM:115197 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
Pericardial Effusion, Chronic |
|
Constrictive pericarditis, Pericardial effusion |
OMIM:260900 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus |
OMIM:615297 |
Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomal... |
ORPHA:1131 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormal heart morpholo... |
ORPHA:1041 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic ste... |
ORPHA:2414 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... |
OMIM:617300 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Pericardial effusion, Ascites, Edema, Abnormal cardiac septum morphology, Sho... |
OMIM:608776 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology |
OMIM:615373 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Short stature, Torticollis, Patent ductus arteriosus, Pulmonic stenosi... |
OMIM:249670 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Cerebellar dysplasia, Webbed neck, Edema, Arthrogryposis multiplex congenit... |
OMIM:617822 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar e... |
OMIM:211960 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macroglossia, Edema, Coar... |
ORPHA:363705 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Cystic hygroma, P... |
OMIM:618164 |
Acute Lung Injury |
|
Abnormality of serum cytokine level, Increased circulating surfactant protein level, Increased ci... |
ORPHA:178320 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Ankle flexion contracture, Severe postnatal growth retardation, Knee flexion cont... |
ORPHA:435938 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Hypoplastic left heart, Anencephaly |
ORPHA:2476 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Intrauterine growth retardation, Patent duct... |
OMIM:616276 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Congenital Tricuspid Valve Dysplasia |
|
Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiomegaly, Tricusp... |
ORPHA:555874 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Natal tooth, Abnormal cardiac septum morphology, Patent ductus a... |
ORPHA:99811 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine ... |
ORPHA:453499 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia, Patent ductus ... |
OMIM:300049 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Elevated pulmonary artery pressure, Pulmonary ed... |
ORPHA:199241 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... |
ORPHA:70578 |
Craniofacial Microsomia |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Hypoplasia of facial m... |
OMIM:164210 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Congenita... |
ORPHA:1120 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Increased circulating ferritin concentration, Abnormal serum... |
ORPHA:158061 |
Hypertelorism And Tetralogy Of Fallot |
|
Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, S... |
OMIM:239711 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery hypoplasia,... |
OMIM:613426 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Pericardial effusion, Joint contracture of the hand, Delayed eruption ... |
OMIM:235510 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Webbed neck, Spina bifida, Low posterior hairline, Short neck, Congeni... |
ORPHA:2345 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Pleural effusion |
ORPHA:36412 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Pericardial effusion |
ORPHA:231111 |
Congenital Enterovirus Infection |
|
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Pleural effusio... |
ORPHA:292 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus |
OMIM:601612 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... |
OMIM:619313 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Macroglo... |
OMIM:612938 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Short stature, Gr... |
ORPHA:261330 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... |
ORPHA:26793 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Acalvaria |
|
Abnormality of neuronal migration, Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Holoprosencephaly |
|
Abnormality of neuronal migration, Ventricular septal defect, Abnormal aortic morphology, Holopro... |
ORPHA:2162 |
Atrial Standstill |
|
Skeletal muscle atrophy, Abnormal heart morphology, Cardiomyopathy, Muscular dystrophy, Flexion c... |
ORPHA:1344 |
Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Branchial fistula, Webbed neck, Macroglossia, Tricuspid valve prolapse... |
ORPHA:261337 |
Alg3-Cdg |
|
Dandy-Walker malformation, Coarctation of the descending aortic arch, Neural tube defect, Macrogl... |
ORPHA:79321 |
Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hy... |
ORPHA:1272 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
Oligomeganephronia |
|
Branchial cyst, Congenital diaphragmatic hernia, Secundum atrial septal defect |
ORPHA:2260 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Macroglossia, Abnormal heart morp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Macroglossia, Abnormal heart morp... |
ORPHA:352665 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus |
OMIM:617021 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short stature, Webbed neck, Patent ductus... |
OMIM:615355 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericardial effusion |
ORPHA:92 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Growth delay, Patent ductus arteriosus, Broad neck, Atrial septal defe... |
OMIM:300963 |
Acute Interstitial Pneumonia |
|
Peripheral edema, Pleural effusion, Pericardial effusion |
ORPHA:79126 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Pericardial effusion, Ascites, Edema, Left ventricular hypertrophy, Lower limb hype... |
OMIM:619487 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Ascites, Myositis, Edema, Pleural effusion |
ORPHA:93552 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Hematochezia |
OMIM:618183 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Webbe... |
ORPHA:536532 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion |
OMIM:618775 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nonimmune hydrops fetalis, Pericardial effusion, Cardiomyopathy, Flexion contracture, Olivopontoc... |
OMIM:212065 |
Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased circulating a... |
ORPHA:540 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1926 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Neonatal death, Left ventricular hypertrophy, Left ventricular noncompact... |
OMIM:619167 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Ascites, Edema, Pleural effusion, Generalized edema |
ORPHA:90362 |
Alg9-Cdg |
|
Ventricular septal defect, Right ventricular dilatation, Cerebellar atrophy, Pericardial effusion... |
ORPHA:79328 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent ductus arteriosus, Atrial se... |
OMIM:618652 |
Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Pericardial effusion |
OMIM:613011 |
Gaucher Disease Type 1 |
|
Abnormal myocardium morphology, Pericardial effusion, Ascites, Pedal edema |
ORPHA:77259 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia, Abnormal heart valve morphology, Patent ductus arteriosus, Aortic an... |
ORPHA:98892 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Hypertension, Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion |
OMIM:108050 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Short statu... |
ORPHA:1908 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis,... |
OMIM:615382 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Skeletal muscle hypertrophy, Generalized muscle ... |
OMIM:139210 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Intrauterine growth retardation, Growth ... |
ORPHA:251071 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Short neck, Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus |
ORPHA:2001 |
Poems Syndrome |
|
Edema, Pleural effusion, Pericardial effusion, Ascites |
ORPHA:2905 |
Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... |
ORPHA:99827 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Mosaic Trisomy 9 |
|
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Webbed neck, Endocardial fibr... |
ORPHA:99776 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... |
ORPHA:860 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Pleural effusion |
ORPHA:464329 |
Q Fever |
|
Myocarditis, Pericarditis, Pericardial effusion, Endocarditis, Abnormal heart valve morphology, P... |
ORPHA:781 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Joint contracture of the hand, Patent... |
OMIM:244300 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Myelomeningocele, Aplasia of the left hemidiaphragm, Thickened nuchal skin fold, Sp... |
ORPHA:2437 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... |
ORPHA:542323 |
Gaucher Disease Type 3 |
|
Pericardial effusion, Mitral valve calcification, Abnormal heart valve morphology, Aortic valve c... |
ORPHA:77261 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pachygyria, Tetralogy of Fallot, Polymicrogy... |
ORPHA:2328 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Limb muscle weakness, Spina bifida, Hydrocephalus, Gray matter heterotopia |
OMIM:207950 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Short stature, Abnormality of dental eruption, Spina bifida, Cam... |
ORPHA:1327 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Patent duct... |
ORPHA:1686 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Carotid artery stenosis, Ascending tubular aorta aneurysm, Aortic dissecti... |
OMIM:132900 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Pericardial effusion, Pulmonary edema, Congestive heart failure, Sudden c... |
ORPHA:73224 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... |
ORPHA:3092 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Treacher-Collins Syndrome |
|
Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Ventricular septal defect, Hydranencephaly, Intrauterine growth retardation, Myelome... |
ORPHA:1393 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Short stature, Web... |
OMIM:616564 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Schisis Association |
|
Congenital diaphragmatic hernia, Spina bifida, Anencephaly |
ORPHA:63862 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Ascites, Delayed eruption of teeth, Camptodactyly of finger, Hy... |
ORPHA:2136 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... |
ORPHA:2248 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Coarctation of aorta, P... |
OMIM:300514 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Noonan Syndrome 2 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short stature, Atrioventricular canal def... |
OMIM:605275 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Congenital diaphragmatic hernia, Aplasia of the... |
ORPHA:2847 |
Generalized Arterial Calcification Of Infancy |
|
Aortic dissection, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrop... |
ORPHA:51608 |
Thoracoabdominal Syndrome |
|
Ectopia cordis, Anencephaly, Congenital diaphragmatic hernia, Cystic hygroma, Patent ductus arter... |
OMIM:313850 |
Amish Lethal Microcephaly |
|
Spina bifida, Limb hypertonia, Lissencephaly |
ORPHA:99742 |
Pagod Syndrome |
|
Meningocele, Abnormality of neuronal migration, Abnormal aortic morphology, Short stature, Situs ... |
ORPHA:991 |
Acropectorovertebral Dysplasia |
|
Spina bifida, Camptodactyly of finger |
ORPHA:957 |
Chédiak-Higashi Syndrome |
|
Edema, Cerebellar atrophy, Pleural effusion, Pericardial effusion |
ORPHA:167 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... |
ORPHA:2184 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Growth delay, Short stature, Congenital diaphragmatic hernia, Patent d... |
OMIM:613309 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Growth delay, Postnatal growth retardation, Cervical spina bifida, Low posterior hairline, Short ... |
OMIM:600122 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Mitral stenosis, Hypoplastic left heart, Atrial septal defect, Aortic valve stenos... |
OMIM:617660 |
Sweet Syndrome |
|
Increased circulating interleukin 6, Elevated circulating C-reactive protein concentration, Abnor... |
ORPHA:3243 |
Aorta Coarctation |
|
Bicuspid aortic valve, Coarctation of the descending aortic arch, Perimembranous ventricular sept... |
ORPHA:1457 |
Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormal aortic... |
ORPHA:2306 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Palpitat... |
ORPHA:358 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Intrauterine growth retar... |
OMIM:601186 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... |
ORPHA:508488 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus |
OMIM:126320 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Dandy-Walker malformation, Ventricular septal defect, Hydranencephaly, Stil... |
OMIM:256520 |
Tsh-Secreting Pituitary Adenoma |
|
Hypertension, Pericardial effusion, Ventricular arrhythmia, Palpitations, Congestive heart failur... |
ORPHA:91347 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
Lymphangioleiomyomatosis |
|
Lymphedema, Chylopericardium, Ascites, Hydrocephalus, Chylothorax |
ORPHA:538 |
Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Short stature, Web... |
OMIM:609942 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion |
ORPHA:101096 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Intrauterine growth retardation, Abnormal heart morphology, Coarctatio... |
ORPHA:1708 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... |
OMIM:600001 |
Scimitar Syndrome |
|
Dextrocardia, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Abnormal hemidiap... |
ORPHA:185 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Aplasia/Hypoplasia involving the s... |
ORPHA:2671 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Neonatal death, Coarctation of ao... |
OMIM:608978 |
Craniorachischisis |
|
Sirenomelia, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Cervical spina bifid... |
ORPHA:63260 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse, Umbilical hernia, Patent ductus arteriosus, Hydrocephalus |
OMIM:104350 |
Zimmermann-Laband Syndrome 1 |
|
Aortic root aneurysm, Cardiomyopathy, Delayed eruption of teeth, Patent ductus arteriosus, Aortic... |
OMIM:135500 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Diastasis r... |
ORPHA:2092 |
Trisomy 18 |
|
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Short stature, Anenceph... |
ORPHA:3380 |
Cardiac-Urogenital Syndrome |
|
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... |
OMIM:618280 |
Iniencephaly |
|
Myelomeningocele, Anencephaly, Holoprosencephaly, Congenital diaphragmatic hernia, Rhizomelia, Cy... |
ORPHA:63259 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... |
OMIM:610338 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Atrioventricular canal defect, Torticollis, Coarctation of aorta, Patent ductus arteriosus, Spina... |
OMIM:619480 |
Fountain Syndrome |
|
Spina bifida, Short stature, Spina bifida occulta |
ORPHA:3219 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... |
ORPHA:99050 |
Truncus Arteriosus |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... |
ORPHA:3384 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Patent ductus ar... |
ORPHA:210122 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Shoulder muscle hypoplasia, Coarctation of aorta, Spina bifida, Atrial... |
OMIM:274000 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... |
ORPHA:2255 |
Limb Body Wall Complex |
|
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Myelomeningocele, Anencephaly, A... |
ORPHA:2369 |
Branchiooculofacial Syndrome |
|
Intrauterine growth retardation, Facial palsy, Branchial anomaly, Postnatal growth retardation, L... |
OMIM:113620 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Intrauterine growth retardation, Macroglossia, Cardiomegaly, Patent du... |
ORPHA:96191 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Short stature, Atrioventric... |
ORPHA:508498 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb sho... |
ORPHA:2839 |
Jacobsen Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Short stature, Webbed n... |
ORPHA:2308 |
Sarcoidosis, Susceptibility To, 1 |
|
Pleural effusion, Pericardial effusion |
OMIM:181000 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Meacham Syndrome |
|
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... |
ORPHA:3097 |
Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
Fanconi Anemia |
|
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Intrauterine growth retardation, Growth ... |
ORPHA:84 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
Vater/Vacterl Association |
|
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arterio... |
OMIM:192350 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Ventricular septal defect, Abnormal aortic arch morphology, Tricuspid atresia, Trunc... |
ORPHA:567 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... |
ORPHA:216694 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... |
OMIM:270100 |
Trisomy 20P |
|
Spina bifida, Camptodactyly of finger, Low posterior hairline, Short neck, Umbilical hernia |
ORPHA:261318 |
Homozygous Familial Hypercholesterolemia |
|
Cerebral artery atherosclerosis, Myocardial steatosis, Abnormal tendon morphology, Premature coro... |
ORPHA:391665 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Hydromyelia, Chiari malformation, Neural tube defect, Limitat... |
ORPHA:268810 |
Basal Cell Nevus Syndrome |
|
Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma, Hydrocephalus |
OMIM:109400 |
Nail-Patella Syndrome |
|
Short stature, Quadriceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Biceps aplas... |
OMIM:161200 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... |
ORPHA:2299 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363958 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Intrauterine growth retardation, Spina bifida, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Semilobar Holoprosencephaly |
|
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Flexio... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Flexio... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Flexio... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Growth delay, Short stature, Neural tube defect, Abnormal heart morphology, Hydrocephalus, Flexio... |
ORPHA:93924 |
Neurofibromatosis, Type I |
|
Short stature, Rhabdomyosarcoma, Spina bifida, Hydrocephalus, Renal artery stenosis, Aqueductal s... |
OMIM:162200 |
Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Dandy-Walker malformation, Pericarditis, Pericardial effusion, Anasa... |
ORPHA:79318 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Schinzel-Giedion Syndrome |
|
Neural tube defect, Macroglossia, Abnormal heart morphology, Delayed eruption of teeth, Chiari ty... |
ORPHA:798 |
Aicardi Syndrome |
|
Pachygyria, Postnatal growth retardation, Spina bifida, Polymicrogyria, Gray matter heterotopia |
OMIM:304050 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abnormality of chemokine secretion, Increased circulating interleukin 6, Abnormality of interfero... |
ORPHA:544482 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida, Proportionate short stature |
OMIM:234100 |
Visceral Steatosis, Congenital |
|
Neonatal death, Myocardial steatosis |
OMIM:228100 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele |
ORPHA:93929 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Ventricular septal defect, Mixed total anomalous pulmonary venous connection, Mitra... |
ORPHA:99125 |
Exstrophy-Epispadias Complex |
|
Abnormal heart morphology, Spina bifida, Hydrocephalus |
ORPHA:322 |
Split Cord Malformation |
|
Meningocele, Hydromyelia, Chiari malformation, Myelomeningocele, Hydrocephalus, Cervical spina bi... |
ORPHA:573278 |