Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Highly arched eyebrow, Cleft palate, Smooth philtrum, Truncus arteriosus, Intrauterine growth ret... |
OMIM:611867 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Dextrocardia, Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Myelomeningoc... |
OMIM:613686 |
Genitopalatocardiac Syndrome |
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Ventricular septal defect, Cleft palate, Cleft upper lip, Double outlet right ventricle, Right ao... |
OMIM:231060 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Abnormality of the vertebral column, Cleft palate, Abnormal heart morphology, Stillbirth, Abnorma... |
ORPHA:294975 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Block ver... |
OMIM:277300 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pectus excavatum, High palate, Pierre-Robin sequence, Short stature, Long philtrum, Perimembranou... |
OMIM:617877 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Bicuspid aortic valve, Death in infancy, Vertebral fusion, Double outlet right ventricle, Short t... |
OMIM:618845 |
Tricuspid Atresia |
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Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Heart Defects-Limb Shortening Syndrome |
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Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... |
ORPHA:1354 |
16P13.11 Microduplication Syndrome |
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Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Transposition of the great art... |
ORPHA:261243 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
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High, narrow palate, Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Truncus... |
ORPHA:2516 |
Autosomal Recessive Spondylocostal Dysostosis |
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Cleft palate, Abnormal intervertebral disk morphology, Short stature, Abnormal form of the verteb... |
ORPHA:2311 |
Autosomal Dominant Spondylocostal Dysostosis |
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Cleft palate, Intrauterine growth retardation, Abnormal sacrum morphology, Posterior rib fusion, ... |
ORPHA:1797 |
Fetal Trimethadione Syndrome |
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Ventricular septal defect, High palate, Intrauterine growth retardation, Transposition of the gre... |
ORPHA:1913 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
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Ventricular septal defect, Pectus excavatum, Abnormal hair morphology, Intrauterine growth retard... |
OMIM:608406 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Short stature, Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral seg... |
OMIM:609813 |
Eng-Strom Syndrome |
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Ventricular septal defect, Pectus excavatum, Intrauterine growth retardation, Short stature, Abno... |
ORPHA:1937 |
Thymic Aplasia With Fetal Death |
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Truncus arteriosus, Stillbirth |
OMIM:274210 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Hemivertebrae, Vertebral clefting, Disproportionate short-trunk short stature, Rib fusion, Short ... |
OMIM:608681 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Recombinant Chromosome 8 Syndrome |
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Thick lower lip vermilion, Ventricular septal defect, Pectus excavatum, Growth delay, Double outl... |
OMIM:179613 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Ventricular septal defect, Cleft palate, Truncus arteriosus |
OMIM:601355 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Pectus carinatum, Short stature, Abnormality of the philtrum, Abnormal rib morphology, Thick eyeb... |
ORPHA:3268 |
Ritscher-Schinzel Syndrome 1 |
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Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Hemivertebrae, Double o... |
OMIM:220210 |
Emanuel Syndrome |
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Ventricular septal defect, Cleft palate, Truncus arteriosus, High palate, Intrauterine growth ret... |
OMIM:609029 |
Emanuel Syndrome |
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Cleft palate, Truncus arteriosus, Patent ductus arteriosus, Delayed eruption of teeth, Aortic val... |
ORPHA:96170 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... |
ORPHA:401935 |
Cerebrofaciothoracic Dysplasia |
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Cleft palate, Wide mouth, Bifid ribs, Hemivertebrae, Cleft upper lip, Short stature, Coarse hair,... |
ORPHA:1394 |
8P23.1 Microdeletion Syndrome |
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Hypertrophic cardiomyopathy, Abnormal aortic morphology, High palate, Intrauterine growth retarda... |
ORPHA:251071 |
Spondylocostal Dysostosis 5 |
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Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Hemivertebrae, Posterior rib fusion, Mis... |
OMIM:122600 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Ventricular septal defect, Truncus arteriosus, Neonatal death |
OMIM:228940 |
Conotruncal Heart Malformations |
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Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Double Outlet Right Ventricle |
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Ventricular septal defect, Cleft palate, Truncus arteriosus, Short stature, Submucous cleft hard ... |
ORPHA:3426 |
Poland Syndrome |
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Dextrocardia, Hemivertebrae, Short ribs, Sprengel anomaly, Rib fusion |
OMIM:173800 |
Congenital Heart Defects, Multiple Types, 6 |
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Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Femoral-Facial Syndrome |
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Cleft palate, Short stature, Long philtrum, Abnormal sacrum morphology, Sprengel anomaly, Abnorma... |
ORPHA:1988 |
Cleft-Limb-Heart Malformation Syndrome |
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Truncus arteriosus |
OMIM:215850 |
Catel-Manzke Syndrome |
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Highly arched eyebrow, Ventricular septal defect, Cleft palate, Pectus excavatum, Short stature, ... |
ORPHA:1388 |
Cayler Cardiofacial Syndrome |
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Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Isolated Klippel-Feil Syndrome |
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Abnormality of the vertebral column, Ventricular septal defect, Cleft palate, Ectopic anus, Abnor... |
ORPHA:2345 |
Becker Nevus Syndrome |
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Pectus excavatum, Pectus carinatum, Kyphosis, Lipoatrophy, Supernumerary ribs, Rib fusion, Spina ... |
ORPHA:64755 |
Kbg Syndrome |
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Vertebral fusion, Oligodontia, Long philtrum, Low anterior hairline, Short stature, Cervical ribs... |
OMIM:148050 |
Ververi-Brady Syndrome |
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Smooth philtrum, High palate, Wide mouth, Short stature, Intrauterine growth retardation, Transpo... |
OMIM:617982 |
Congenital Heart Defects, Multiple Types, 5 |
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Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Abnormal sacrum morphology, ... |
ORPHA:1926 |
22Q11.2 Duplication Syndrome |
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Interrupted aortic arch, Ventricular septal defect, Cleft palate, Smooth philtrum, Growth delay, ... |
ORPHA:1727 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic ste... |
OMIM:615415 |
Thakker-Donnai Syndrome |
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Ventricular septal defect, Intrauterine growth retardation, Hemivertebrae, Rectovaginal fistula, ... |
ORPHA:1780 |
Scimitar Syndrome |
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Abnormality of the vertebral column, Truncus arteriosus, Mitral atresia, Single ventricle, Patent... |
ORPHA:185 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... |
ORPHA:860 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
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Cleft palate, Microdontia of primary teeth, Sparse eyelashes, Short stature, Patent ductus arteri... |
OMIM:213980 |
Acrocardiofacial Syndrome |
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Ventricular septal defect, Death in infancy, Truncus arteriosus, Cleft palate, Intrauterine growt... |
ORPHA:2008 |
Microphthalmia, Syndromic 3 |
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Ventricular septal defect, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short stature, M... |
OMIM:206900 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Highly arched eyebrow, Ventricular septal defect, Smooth philtrum, Double outlet right ventricle,... |
OMIM:618316 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Wide mouth, Macroglossia, Transposition of the great arteries, Everted lower lip vermilion, Open ... |
OMIM:616789 |
Transposition Of The Great Arteries, Dextro-Looped |
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Transposition of the great arteries |
OMIM:608808 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Ventricular septal defect, Cleft palate, Cleft upper lip, Cervical C2/C3 vertebral fusion, Fused ... |
OMIM:214300 |
Right Atrial Isomerism |
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Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Colon perforation, Truncus arteriosus, Double outlet left ventricle, Aplasia of the left hemidiap... |
OMIM:600001 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in infancy, Neonatal death, Aplasia of the left hemidiaphragm, Paten... |
OMIM:608978 |
Autosomal Recessive Robinow Syndrome |
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Death in infancy, Camptodactyly of finger, Vertebral segmentation defect, Umbilical hernia, Ventr... |
ORPHA:1507 |
Criss-Cross Heart |
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Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... |
ORPHA:1461 |
Truncus Arteriosus |
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Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... |
ORPHA:3384 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, High palate, Pectus excavatum, Cleft palate, Pectus carinatum, Abnorma... |
OMIM:609654 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... |
OMIM:617478 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
Short Rib-Polydactyly Syndrome |
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Thoracic hypoplasia, Horizontal ribs, Cleft palate, Absent or minimally ossified vertebral bodies... |
ORPHA:1505 |
Lethal Congenital Contracture Syndrome 10 |
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Omphalocele, Ventricular septal defect, High palate, Intrauterine growth retardation, Long philtr... |
OMIM:617022 |
Lymphangiectasia, Intestinal |
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Abnormal hair morphology, Prominent floating ribs, Edema, Malabsorption, Stillbirth, Intestinal l... |
OMIM:152800 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Cleft palate, Hemivertebrae, Low anterior hairline, Short stature, Double outlet right ventricle,... |
OMIM:618223 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Omphalocele, Tricuspid stenosis, Abnormal coronary artery origin, Mitral s... |
ORPHA:1686 |
Carpenter Syndrome 1 |
|
Omphalocele, Ventricular septal defect, High palate, Short stature, Joint contracture of the hand... |
OMIM:201000 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Pectus excavatum, Cleft palate, High palate, Intrauterine growth retardation, Short stature, Long... |
ORPHA:2990 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus, Esophageal varix |
OMIM:616589 |
Tyshchenko Syndrome |
|
High, narrow palate, Ventricular septal defect, Pectus excavatum, Cleft palate, High palate, Low ... |
OMIM:615102 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Abnormality of the vertebral column, Abnormal vertebral morphology, Atrioventricular canal defect... |
OMIM:314390 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Pectus excavatum, Cleft palate, High palate, Pectus cari... |
OMIM:616145 |
Sonoda Syndrome |
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Ventricular septal defect, Narrow mouth, Short stature |
OMIM:270460 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Intrauterine growth retar... |
OMIM:601186 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Omphalocele, Ventricular septal defect, Short philtrum, Abnormal clavicle morphology, Rhizomelia,... |
ORPHA:93267 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Abnormal clavicle morphology, Abnormal rib morphology, Tetralogy of ... |
ORPHA:276422 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal vertebral morphology, Abnormal aortic valv... |
ORPHA:261197 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Omphalocele, Ventricular septal defect, Mitral atresia, Double outlet right ventric... |
OMIM:306955 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Omphalocele, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, N... |
OMIM:265380 |
Robinow Syndrome |
|
Short stature, Broad alveolar ridges, Triangular mouth, Umbilical hernia, Ventricular septal defe... |
ORPHA:97360 |
14Q11.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Ventricular septal defect, High palate, Long philtrum, Sparse lateral eyeb... |
ORPHA:261120 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... |
ORPHA:2255 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Truncus arteriosu... |
ORPHA:261330 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Thick lower lip vermilion, Ventricular septal defect, Short philtrum, Low anterior hairline, Sacr... |
OMIM:608227 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus |
OMIM:615297 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Cleft palate, Edema, Disproportionate short-limb short stature, Stillbirth, Shor... |
OMIM:200610 |
Femoral-Facial Syndrome |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Smooth philtrum, Hemivertebrae, Long... |
OMIM:134780 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Short stature, Congenital di... |
ORPHA:1166 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormal r... |
ORPHA:2790 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Persistent left superior vena cava, Double outlet right ventricle, Patent ductus art... |
ORPHA:3304 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Pectus excavatum, Spinal canal stenosis, Polyhydramnios, 11 pairs of r... |
OMIM:618624 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Thoracic hypoplasia, Disproportionate short stature, Cleft palate, High palate, Pi... |
OMIM:618363 |
Metatropic Dysplasia |
|
Long thorax, Cleft palate, Abnormal intervertebral disk morphology, Abnormal form of the vertebra... |
ORPHA:2635 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... |
ORPHA:99050 |
Restrictive Dermopathy |
|
Short nail, Patent ductus arteriosus, Small placenta, Camptodactyly of finger, Sparse hair, Large... |
ORPHA:1662 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Arthrogryposis, Distal, Type 1C |
|
Cleft palate, Shoulder flexion contracture, High palate, Hip contracture, Short stature, Thin ver... |
OMIM:619110 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Truncus arteriosus, Hypertric... |
ORPHA:508498 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ribs, Short ribs, Anal atres... |
OMIM:271520 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Dextrotransposition of t... |
OMIM:618619 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Intrauterine growth retardation, Vertebral fusion, Hemivertebrae, Polyhydramnios, Anal atresia, 1... |
ORPHA:94095 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the vertebral column, Cleft palate, Abnormal form of the vertebral bodies, Low pos... |
ORPHA:280 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Widely spaced teeth, Thick lower lip vermilion, Ventricular septal defect, Cleft palate, Hypoplas... |
OMIM:280000 |
Filippi Syndrome |
|
Hypodontia, Ventricular septal defect, Hypertrichosis, Short philtrum, Microdontia, Intrauterine ... |
OMIM:272440 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... |
OMIM:249670 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Neu-Laxova Syndrome 1 |
|
Thick lower lip vermilion, Short umbilical cord, Ventricular septal defect, Cleft palate, Intraut... |
OMIM:256520 |
Zttk Syndrome |
|
Short stature, Patent ductus arteriosus, Intestinal atresia, Ventricular septal defect, High pala... |
OMIM:617140 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Pectus excavatum, Atrioventricular canal d... |
ORPHA:392 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thickened ribs, Death in infancy, Hypertrich... |
OMIM:230500 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Long clavicles, Cleft palate, High palate, Bilateral camptodactyly, Anterior clefting of vertebra... |
OMIM:265000 |
Achondrogenesis Type 1B |
|
Disproportionate short stature, Long philtrum, Short thorax, Polyhydramnios, Severe short stature... |
ORPHA:93298 |
Trisomy 13 |
|
High, narrow palate, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Lo... |
ORPHA:3378 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft palate, Intrauterine growth retardation, Thin ribs, Vertebral fusion, Cleft upper lip, Edem... |
OMIM:312150 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... |
OMIM:605376 |
White Forelock With Malformations |
|
Abnormal palate morphology, Deep philtrum, White forelock, Sprengel anomaly, Atrial septal defect... |
ORPHA:2475 |
Chime Syndrome |
|
Fine hair, Ventricular septal defect, Cleft palate, Hypodontia, Microdontia, Short philtrum, Supe... |
ORPHA:3474 |
Thoracoabdominal Syndrome |
|
Omphalocele, Cleft palate, Ectopia cordis, Cleft upper lip, Congenital diaphragmatic hernia, Pate... |
OMIM:313850 |
Chromosome 15Q14 Deletion Syndrome |
|
Highly arched eyebrow, Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip ... |
OMIM:616898 |
Meacham Syndrome |
|
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... |
ORPHA:3097 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Smooth philtrum, Atrial septal dilatation, Pierre-Robin sequenc... |
ORPHA:263508 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Growth delay, Abnormal heart morphology, Abnormal coronary artery morphology,... |
ORPHA:980 |
Hadziselimovic Syndrome |
|
Thick lower lip vermilion, Ventricular septal defect, High palate, U-Shaped upper lip vermilion, ... |
OMIM:612946 |
Primary Ciliary Dyskinesia |
|
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... |
ORPHA:244 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect, Intrauterine growth retar... |
ORPHA:2515 |
Prune Belly Syndrome |
|
Ventricular septal defect, Pectus excavatum, Volvulus, Patent ductus arteriosus, Anal atresia, In... |
ORPHA:2970 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Cleft palate, Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect |
OMIM:221950 |
Tetralogy Of Fallot |
|
Intrauterine growth retardation, Thin vermilion border, Tetralogy of Fallot |
ORPHA:3303 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Hemivertebrae, Short st... |
OMIM:146510 |
Mcdonough Syndrome |
|
Ventricular septal defect, Pectus excavatum, Sparse hair, Short philtrum, Pectus carinatum, Short... |
OMIM:248950 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Death in infancy, Abnormal aortic valve morphology, Atrioventricular canal... |
ORPHA:1120 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... |
ORPHA:2299 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
Facial Dysmorphism With Multiple Malformations |
|
Ventricular septal defect, Intrauterine growth retardation, Hemivertebrae, Rectovaginal fistula, ... |
OMIM:227255 |
Cardiospondylocarpofacial Syndrome |
|
Short stature, Long philtrum, Fused cervical vertebrae, Rib fusion, Abnormality of the dentition,... |
OMIM:157800 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy, Glossoptosis |
OMIM:614876 |
Aicardi Syndrome |
|
Cleft palate, Butterfly vertebrae, Short philtrum, Bifid ribs, Cleft upper lip, Block vertebrae, ... |
ORPHA:50 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Sacral dimple, Patent ductus arteriosus |
OMIM:617516 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Absent uvula, Hypoplastic sacrum, Thin upper lip vermilion, Umbilical hernia, Tria... |
OMIM:268310 |
Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Umbilical hernia, Neonatal short-limb short statur... |
OMIM:600972 |
Mosaic Trisomy 14 |
|
Cleft palate, High palate, Wide mouth, Ectopic anus, Narrow chest, Abnormal rib morphology, Campt... |
ORPHA:1703 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Omphalocele, Mitral valve prolapse, Hirsutism, ... |
ORPHA:371428 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... |
OMIM:270100 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Wide mouth, Short statu... |
OMIM:615279 |
8P23.1 Duplication Syndrome |
|
Highly arched eyebrow, Ventricular septal defect, Long philtrum, Pulmonic stenosis, Tetralogy of ... |
ORPHA:251076 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Cleft palate, Butterfly vertebrae, Duodenal atresia, Submucous cleft h... |
OMIM:301043 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Abnormal form of the vertebral bodies, Short thorax,... |
ORPHA:1801 |
Craniofaciofrontodigital Syndrome |
|
Pyloric stenosis, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Anomalous branc... |
ORPHA:363705 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Thoracic hypoplasia, Ventricular septal defect, Cleft palate, Intrau... |
OMIM:616897 |
Schneckenbecken Dysplasia |
|
Anterior rib cupping, Cleft palate, Lateral clavicle hook, Hypoplastic scapulae, Disproportionate... |
OMIM:269250 |
3C Syndrome |
|
Death in infancy, Cleft palate, Short stature, Postnatal growth retardation, Aortic valve stenosi... |
ORPHA:7 |
German Syndrome |
|
Lymphedema, High palate, Short stature, Synophrys, Arthrogryposis multiplex congenita, Abnormal e... |
ORPHA:2077 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Cleft palate, Cleft upper lip, Ye... |
OMIM:153400 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia, Generalized hirsutism |
ORPHA:1918 |
Multiple Pterygium Syndrome, Lethal Type |
|
Cleft palate, Intrauterine growth retardation, Thin ribs, Vertebral fusion, Edema, Polyhydramnios... |
OMIM:253290 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypodontia, Ventricular septal defect, Megarectum, Butterfly vertebrae, Hirsutism, Short stature,... |
OMIM:301056 |
Thoracic Outlet Syndrome |
|
Edema, Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Long philtrum, Persistent left... |
ORPHA:477817 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect, Tongue fasciculations |
OMIM:253300 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short stature, Abnormal sternum morpholog... |
OMIM:615355 |
Kniest-Like Dysplasia, Lethal |
|
Cleft palate, Coronal cleft vertebrae, Edema, Rhizomelia, Short ribs, Patent ductus arteriosus, P... |
OMIM:245190 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormality of the de... |
OMIM:616901 |
Fibrochondrogenesis 1 |
|
Omphalocele, Cleft palate, Short ribs, Joint contracture of the hand, Camptodactyly, Hydrops feta... |
OMIM:228520 |
Aicardi Syndrome |
|
Cleft palate, Butterfly vertebrae, Bifid ribs, Hemivertebrae, Cleft upper lip, Block vertebrae, S... |
OMIM:304050 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cleft palate, Short nail, Short ribs, Patent ductus arteriosus, Six lumbar vertebrae, Vertebral s... |
OMIM:312870 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Ventricular septal defect, Pectus excavatum, Mitral val... |
OMIM:249420 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Ventricular septal defect, Omphalocele, Abnormal heart morphology, Coat hang... |
ORPHA:254534 |
Digeorge Syndrome |
|
Interrupted aortic arch, High, narrow palate, Ventricular septal defect, Cleft palate, Truncus ar... |
OMIM:188400 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Spinal canal stenosis, Wide mouth, Pectus carinatum, Short stature, Short thorax, ... |
ORPHA:582 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Cleft palate, Truncus arteriosus, Short stature, Abnormal dental enamel morphology... |
ORPHA:567 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
Noonan Syndrome 2 |
|
Shield chest, Short stature, Abnormal sternum morphology, Abnormal coronary artery origin, Mitral... |
OMIM:605275 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia, Postnatal growth retardation, Short stature |
OMIM:614326 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Wide mouth, Low anterior hairline, Long philtrum, Low posterior hair... |
ORPHA:1517 |
Mmep Syndrome |
|
Ventricular septal defect, Median cleft lip, Oral cleft |
ORPHA:3434 |
Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Growth delay, Cleft upper lip, Ve... |
OMIM:612561 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Disproportionate short-limb short sta... |
ORPHA:2772 |
Desbuquois Syndrome |
|
Ventricular septal defect, Disproportionate short-limb short stature, Severe short stature, Bell-... |
ORPHA:1425 |
Insulin-Like Growth Factor I, Resistance To |
|
Highly arched eyebrow, Ventricular septal defect, Pectus excavatum, Smooth philtrum, High palate,... |
OMIM:270450 |
Phaver Syndrome |
|
Ventricular septal defect, Butterfly vertebrae, Intrauterine growth retardation, Myelomeningocele... |
ORPHA:2876 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Cleft palate, Smooth philtrum, Short philtrum, Short stature, Long phi... |
ORPHA:261190 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Highly arched eyebrow, Ventricular septal defect, Cleft palate, Laterally extended eyebrow, Short... |
OMIM:600987 |
Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Pectus excavatum, Cleft palate, Growth delay, Short stature, Cleft upper lip, Conge... |
OMIM:614294 |
Achondrogenesis Type 1A |
|
Long philtrum, Multiple rib fractures, Short thorax, Polyhydramnios, Severe short stature, Narrow... |
ORPHA:93299 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pectus excavatum, Cleft palate, Abnormal hair morphology, Cleft upper ... |
ORPHA:96167 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Cleft palate, Coronal cleft vertebrae, Severe short-limb dwarfism, Edema, S... |
ORPHA:2347 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sparse eyelashes, Celiac disease, Alopecia, Sparse eyebrow, Absent eyelashes, Polyhydramnios, Abs... |
ORPHA:544488 |
Maternal Phenylketonuria |
|
Ventricular septal defect, High palate, Intrauterine growth retardation, Long philtrum, Double ou... |
ORPHA:2209 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Growth delay, Esophagit... |
OMIM:612562 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Midgut malrotation, Cleft palate, Short lingual frenulum, Growth delay, S... |
ORPHA:2326 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Missing ribs, Abnormal... |
ORPHA:1488 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormality of the hairline, Short stature, Growth delay, Double outlet right ventricle, Patent d... |
OMIM:614886 |
Progeroid Facial Appearance With Hand Anomalies |
|
Short philtrum, Thin vermilion border, Reduced subcutaneous adipose tissue, Oligohydramnios, Narr... |
OMIM:602249 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Oligohydramnios, Intrauterine growth retardation, Patent ductus arteri... |
OMIM:617021 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Short stature |
OMIM:614947 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Omphalocele, Patent ductus arteriosus, Atrial septal de... |
OMIM:601927 |
Kagami-Ogata Syndrome |
|
Long clavicles, Ventricular septal defect, Omphalocele, Thin ribs, Long philtrum, Kyphoscoliosis,... |
OMIM:608149 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Short stature, Jejunal atresia |
ORPHA:391646 |
Renpenning Syndrome |
|
High, narrow palate, Pectus excavatum, Cleft palate, Short philtrum, Thin eyebrow, Growth delay, ... |
ORPHA:3242 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Neonatal death, Short ribs... |
OMIM:187601 |
Vater/Vacterl Association |
|
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Abnormal vertebral mo... |
OMIM:192350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Pulmonic stenosis, Transposition of the great arteries, Spinal rigidity, ... |
OMIM:253800 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Ventricular septal defect, Death in infancy, Cleft palate, Smooth phi... |
OMIM:235255 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... |
OMIM:614980 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Hypertrichosis, Short stature, Long philtrum, Patent ductus arteriosus... |
OMIM:619189 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Smooth philtrum, Diastema, Wi... |
ORPHA:329224 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Lumbar hypertrichosis, Wide mouth, Peripheral pulmonary artery stenosi... |
ORPHA:163956 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Cleft palate, Pectus excavatum, Smooth philtru... |
OMIM:618348 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Cleft palate, Myelomeningocele, Abnormal vertebral... |
ORPHA:66637 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Short stature, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae... |
ORPHA:2522 |
Carpenter Syndrome 2 |
|
Dextrocardia, Highly arched eyebrow, Pectus excavatum, High palate, Hypoplastic nipples, Pectus c... |
OMIM:614976 |
Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Widely spaced teeth, Hypoplasia of the odontoid process, Intimal thickening in the... |
OMIM:253010 |
Osteogenesis Imperfecta, Type Ix |
|
Pectus excavatum, Pectus carinatum, Disproportionate short-limb short stature, Platyspondyly, Kyp... |
OMIM:259440 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Cleft palate, Ectopic anus, Non-midline cleft lip, Hypoplastic left he... |
ORPHA:2476 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Abnormal intervertebral disk morphology, Short stature, Long philtrum,... |
ORPHA:85194 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hirsutism, Esophageal varix, Hip contracture, Mitral atresia, Delayed eruption of teeth, Subvalvu... |
OMIM:619503 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Cleft palate, Cleft lip, Pericallosal lipoma, Narrow mouth, Broad phil... |
ORPHA:398156 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis |
ORPHA:1909 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Short stature, Abnormal form of the vertebral bodies, Low posterior hairline, Short... |
OMIM:194190 |
Roifman Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Noncompaction cardiomyopathy, Hip con... |
OMIM:616651 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Mitral valve prolapse, ... |
OMIM:616564 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Hemivertebrae, Abnormality of the philtrum, Aplasia/Hypoplasia of the to... |
ORPHA:2759 |
Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Wide mouth, Branchial anomaly, Inguin... |
ORPHA:1296 |
Sprengel Deformity |
|
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... |
OMIM:184400 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Anal atresia, Atrial septal defect, Narrow mouth |
ORPHA:3469 |
Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Ventricular septal defect, High palate, Long philtrum, Cleft soft palate, El... |
OMIM:117650 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal palate morphology, Intrauterine growth retardation, Abnormal rib morphology |
ORPHA:1506 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Short stature |
ORPHA:1513 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Highly arched eyebrow, Ventricular septal defect, Cleft palate, Ectopic anus, Short philtrum, Dow... |
ORPHA:94066 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Pectus excavatum, Butterfly vertebrae, Coronal cleft vertebrae, Short ... |
OMIM:618870 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Edema, Cardiomyocyte hypertrophy, Death in adolescence, Woolly hair, Deat... |
OMIM:605676 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Intrauterine growth retardation, Kyphoscoliosis, Camptodactyly |
OMIM:614815 |
Juberg-Hayward Syndrome |
|
Highly arched eyebrow, Intrauterine growth retardation, Abnormal vertebral morphology, Abnormal e... |
ORPHA:2319 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Short philtrum, Growth delay, Patent ductus arteriosus, Atrial septal ... |
OMIM:300963 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hypoplastic nipples, Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, ... |
OMIM:269860 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hernia of the abdominal wall, Abnormal palate morphology, Abnormal hair morphology, Pectus carina... |
ORPHA:3082 |
Hypertelorism And Tetralogy Of Fallot |
|
Long philtrum, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pul... |
OMIM:239711 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, High palate, Short stature, Postnatal growth retardation, Broad second... |
ORPHA:3369 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal cardiac septum morpholog... |
ORPHA:93941 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Downturned corners of mouth, Enamel hypopl... |
ORPHA:2643 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flaring of lower rib cage, Posterior wedging of vertebral bodies, Aplasia/Hy... |
ORPHA:168549 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Perineal fistula, Truncus arteriosus, Growth delay, Rectovaginal fistula, Esophagit... |
ORPHA:2538 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Increased anterioposterior diameter of thorax, Ventricular septal defect, Mixed tot... |
ORPHA:99125 |
Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Wide mouth, Short statu... |
OMIM:610733 |
Pontine Tegmental Cap Dysplasia |
|
Impaired mastication, Scoliosis, Hemivertebrae, Rib fusion |
OMIM:614688 |
Diastrophic Dysplasia |
|
Cleft palate, Intrauterine growth retardation, Neonatal short-limb short stature, Abnormal clavic... |
ORPHA:628 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Coarctation of aorta, Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal palate morphology, Open bite, Short stature, Sprengel ... |
ORPHA:2097 |
1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Pyloric stenosis, Abnormal intestine morphology, Short stature, Patent du... |
ORPHA:1606 |
Fibrochondrogenesis |
|
Omphalocele, Cleft palate, Hypoplastic scapulae, Short stature, Abnormal form of the vertebral bo... |
ORPHA:2021 |
Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Widely spaced teeth, Hypoplasia of the odontoid process, Wide mouth, Cervical subl... |
OMIM:253000 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Ventricular septal defect, Pectus excavatum, High palate, Intrauterine growth reta... |
OMIM:617602 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Abnormal sternum morphology, Short ribs, Patent ductus arteriosus, Atr... |
ORPHA:2519 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, High palate, Cleft palate, Pectus excavatum, Short stature, Patent duc... |
ORPHA:52055 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Pectus excavatum, Camptodactyly |
OMIM:613458 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Intrauterine growth retarda... |
OMIM:612938 |
Three M Syndrome 2 |
|
High palate, Intrauterine growth retardation, Thin ribs, Pectus carinatum, Long philtrum, Short s... |
OMIM:612921 |
Transaldolase Deficiency |
|
Ventricular septal defect, Intrauterine growth retardation, Short philtrum, Wide mouth, Coarctati... |
OMIM:606003 |
Achondrogenesis, Type Ia |
|
Short clavicles, Hypoplastic scapulae, Unossified vertebral bodies, Stillbirth, Short ribs, Polyh... |
OMIM:200600 |
Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Thoracic hypoplasia, Ventricular septal defect, Lateral clavicle hook, Short stature, Short ribs,... |
OMIM:615630 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, High palate, Short stature, Broad alveolar ridges, Inguinal hernia |
OMIM:314320 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Highly arched eyebrow, Ventricular septal defect, High palate, Intrauterine growth retardation, S... |
OMIM:617452 |
Baller-Gerold Syndrome |
|
Perineal fistula, Cleft palate, High palate, Short stature, Abnormal vertebral morphology, Rectov... |
OMIM:218600 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Abnormal rib morphology, Low posterior hairline, Short neck, Vertebral segmentatio... |
ORPHA:2578 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Smooth philtrum, Rectal prolapse, Hirsutism, Oligodontia, Joint contracture of the hand, Delayed ... |
OMIM:235510 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic root aneurysm, Patent ductus arteriosus, 11... |
OMIM:607872 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Smooth philtrum, Truncus arteriosus, Short stature, Patent ductus arteriosus, Thi... |
ORPHA:508488 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Pectus excavatum, Meckel diverticulum, Abnormal heart morphology, Abnormal... |
ORPHA:2847 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Cleft palate, Abnormal sternum morphology, Congenital dia... |
ORPHA:1335 |
Craniosynostosis, Herrmann-Opitz Type |
|
Cleft palate, Intrauterine growth retardation, Short stature, Oligohydramnios, Abnormal rib morph... |
ORPHA:2145 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Cleft palate, Anterior rib cupping, Pectus carinatum, Platyspondyly, Severe sh... |
OMIM:184250 |
Coffin-Siris Syndrome 10 |
|
Persistence of primary teeth, Ventricular septal defect, Wide mouth |
OMIM:618506 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Ventricular septal defect, Cleft palate, Death in infancy, Intrauterine growth retar... |
ORPHA:1393 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Ventricular septal defect, High palate, Cleft palate, Intrauterine growth retardation, Short stat... |
OMIM:617164 |
Campomelia, Cumming Type |
|
Abnormal intestine morphology, Cleft palate, Death in infancy, Abnormal thorax morphology, Oligoh... |
ORPHA:1318 |
King-Denborough Syndrome |
|
Ventricular septal defect, High palate, Short stature, Kyphoscoliosis, Deep philtrum, Thoracic ky... |
OMIM:619542 |
Melnick-Needles Syndrome |
|
Omphalocele, Short clavicles, Short stature, Tooth malposition, Short thorax, Delayed eruption of... |
ORPHA:2484 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Polyhydramnios, Narrow chest, Bell-shaped thorax, Thoraci... |
OMIM:615633 |
Timothy Syndrome |
|
Ventricular septal defect, Microdontia, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fall... |
OMIM:601005 |
Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Hirsutism, Short stature, Tortuous... |
OMIM:619472 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Ventricular septal defect, Omphalocele, Lateral clavicle ho... |
OMIM:617895 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Ventricular septal defect, Butterfly vert... |
ORPHA:79345 |
3P25.3 Microdeletion Syndrome |
|
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Short philtrum, C... |
ORPHA:435638 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch |
OMIM:613751 |
Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Ankle flexion contracture, High palate, Mitral valve prolapse, Hirsutism, Coat han... |
OMIM:305620 |
Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Cleft palate, Congenital diaphragmatic hernia, Short thor... |
ORPHA:261344 |
Holzgreve Syndrome |
|
Cleft palate, Intrauterine growth retardation, Aplasia/Hypoplasia of the tongue, Bifid tongue, Ol... |
ORPHA:2167 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal dental enamel morphol... |
ORPHA:2180 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect, Scoliosis, Keloids |
ORPHA:357225 |
Acro-Renal-Mandibular Syndrome |
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High palate, Butterfly vertebrae, Thin ribs, Hypoplastic scapulae, Pectus carinatum, Short philtr... |
ORPHA:958 |
Congenital Disorder Of Glycosylation, Type Iia |
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Ventricular septal defect, Pectus excavatum, Diastema, Wide mouth, Hirsutism, Short stature, Ging... |
OMIM:212066 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Ventricular septal defect, Abnormal aortic morphology, Duodenal atresia, Abnormal tricuspid valve... |
ORPHA:3405 |
Vacterl/Vater Association |
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Omphalocele, Cleft palate, Abnormal intervertebral disk morphology, Intrauterine growth retardati... |
ORPHA:887 |
Ventricular Septal Defect 3 |
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Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Cat-Eye Syndrome |
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Intrauterine growth retardation, Abnormal rib morphology, Short stature, Anal atresia |
ORPHA:195 |
Loeys-Dietz Syndrome 5 |
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Cleft palate, Smooth philtrum, Short stature, Aortic root aneurysm, Ventricular septal defect, Hi... |
OMIM:615582 |
Thanatophoric Dysplasia, Type I |
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Small abnormally formed scapulae, Wide-cupped costochondral junctions, Neonatal death, Short ribs... |
OMIM:187600 |
Arthrogryposis, Distal, Type 3 |
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Distal arthrogryposis, Pectus excavatum, Cleft palate, High palate, Short stature, Kyphoscoliosis... |
OMIM:114300 |
Mucopolysaccharidosis, Type Iiid |
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Thick lower lip vermilion, Ovoid thoracolumbar vertebrae, Thickened ribs, Hirsutism, Wide mouth, ... |
OMIM:252940 |
Leopard Syndrome 3 |
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Shield chest, Growth delay, Short stature, Abnormal mitral valve morphology, Abnormal aortic valv... |
OMIM:613707 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Ventricular septal defect, Intrauterine growth retardation, Short stature, Long philtrum, Brittle... |
ORPHA:75389 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Hernia of the abdominal wall, Abnormal thorax morphology, Patent ductus arteriosus, Tetralogy of ... |
ORPHA:2184 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Patent ductus arteriosus after birth at term, Cleft palate, Smooth philtrum, Submucous cleft soft... |
ORPHA:500150 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Lymphatic Malformation 6 |
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Pectus excavatum, Nonimmune hydrops fetalis, Ascites, Short stature, Edema, Chylothorax, Facial e... |
OMIM:616843 |
Mosaic Trisomy 9 |
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Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Intrauterine growth retardati... |
ORPHA:99776 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Highly arched eyebrow, Ventricular septal defect, High palate, Intrauterine growth retardation, P... |
OMIM:618142 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
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Ventricular septal defect, Pectus excavatum, Short philtrum, Pectus carinatum, Aortic root aneury... |
OMIM:301039 |
Orofaciodigital Syndrome Type 5 |
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High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
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Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Distichiasis, Pedal edema, P... |
OMIM:126320 |
3M Syndrome |
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Horizontal ribs, Intrauterine growth retardation, Thin ribs, Short stature, Long philtrum, Short ... |
ORPHA:2616 |
Jeune Syndrome |
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Short stature, Abnormal sternum morphology, Abnormal clavicle morphology, Short thorax, Narrow ch... |
ORPHA:474 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Ventricular septal defect, Pectus excavatum, High palate, Umbilical hernia, Cleft upper lip, Pate... |
OMIM:612582 |
8Q12 Microduplication Syndrome |
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Highly arched eyebrow, Ventricular septal defect, Long philtrum, Atrial septal defect, Narrow mou... |
ORPHA:228399 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
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Ventricular septal defect |
OMIM:616277 |
Contractural Arachnodactyly, Congenital |
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Bicuspid aortic valve, Ventricular septal defect, High palate, Mitral valve prolapse, Distal arth... |
OMIM:121050 |
Inverted Duplicated Chromosome 15 Syndrome |
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Ventricular septal defect, High palate, Short philtrum, Growth delay, Drooling, Hernia, Tetralogy... |
ORPHA:3306 |
Johnson Neuroectodermal Syndrome |
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Carious teeth, Ventricular septal defect, Cleft palate, Growth delay, Short stature, Alopecia, Ab... |
OMIM:147770 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Ventricular septal defect, Pectus excavatum, Ascending tubular aorta aneurysm, High palate, Short... |
OMIM:309520 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Pyloric stenosis, Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosi... |
OMIM:614262 |
Greenberg Dysplasia |
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Omphalocele, Abnormal intestine morphology, Neonatal death, Short ribs, 11 pairs of ribs, Sternal... |
OMIM:215140 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Cleft upper lip, Joint ... |
OMIM:244300 |
Microphthalmia, Syndromic 2 |
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Oligodontia, Short stature, Patent ductus arteriosus, Delayed eruption of teeth, Aortic valve ste... |
OMIM:300166 |
Methimazole Embryofetopathy |
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Ventricular septal defect, Abnormal aortic morphology, Intrauterine growth retardation, Coarctati... |
ORPHA:1923 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Ventricular septal defect, Growth delay, Hemivertebrae, Abnormal vertebral morphology, Esophageal... |
ORPHA:77298 |
Axial Mesodermal Dysplasia Spectrum |
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Omphalocele, Abnormal intestine morphology, Short stature, Congenital diaphragmatic hernia, Abnor... |
ORPHA:1834 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Atrial septal d... |
OMIM:618974 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Highly arched eyebrow, Smooth philtrum, Cleft palate, Pectus carinatum, Long philtrum, Hemiverteb... |
OMIM:614701 |
Wolcott-Rallison Syndrome |
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Growth delay, Short stature, Ascites, Double outlet right ventricle, Atrial septal defect, Dehydr... |
ORPHA:1667 |
Left Ventricular Noncompaction 1 |
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Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
Serkal Syndrome |
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Ventricular septal defect, Growth delay, Congenital diaphragmatic hernia, Malrotation of small bo... |
ORPHA:139466 |
Mucopolysaccharidosis Type 6 |
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Thick lower lip vermilion, Macroglossia, Hernia, Kyphosis, Ovoid vertebral bodies, Abnormal heart... |
ORPHA:583 |
Osteopathia Striata With Cranial Sclerosis |
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Omphalocele, Cleft palate, Pierre-Robin sequence, Short stature, Joint contracture of the hand, P... |
OMIM:300373 |
Mucopolysaccharidosis, Type Iiic |
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Ovoid thoracolumbar vertebrae, Thickened ribs, Hirsutism, Kyphoscoliosis, Coarse hair, Hernia, Ev... |
OMIM:252930 |
Distal Monosomy 15Q |
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Bicuspid aortic valve, Abnormal aortic arch morphology, Cleft palate, Intrauterine growth retarda... |
ORPHA:1596 |
Lateral Meningocele Syndrome |
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Meningocele, High, narrow palate, Ventricular septal defect, High palate, Smooth philtrum, Pectus... |
ORPHA:2789 |
Alagille Syndrome |
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Ventricular septal defect, Intrauterine growth retardation, Short philtrum, Peripheral pulmonary ... |
ORPHA:52 |
Teebi-Shaltout Syndrome |
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High, narrow palate, Ventricular septal defect, Cleft palate, Pectus excavatum, Smooth philtrum, ... |
OMIM:272950 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
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Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Interphalangeal joint contracture of finger, Ankle flexion contracture, High palate, Hip contract... |
ORPHA:1145 |
Suleiman-El-Hattab Syndrome |
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Thick lower lip vermilion, Highly arched eyebrow, Ventricular septal defect, Smooth philtrum, Hig... |
OMIM:618950 |
Triploidy |
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Meningocele, Omphalocele, Cleft palate, Intrauterine growth retardation, Wide mouth, Macroglossia... |
ORPHA:3376 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Hypodontia, Cleft palate, Misalignment of incisors, Pierre-Robin sequence, Oligodontia, Intrauter... |
OMIM:619184 |
Hurler Syndrome |
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Spinal canal stenosis, Death in infancy, Growth delay, Short stature, Abnormal vertebral morpholo... |
ORPHA:93473 |
Burn-Mckeown Syndrome |
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Ventricular septal defect, Cleft palate, Short philtrum, Cleft upper lip, Thin vermilion border, ... |
OMIM:608572 |
Aase-Smith Syndrome I |
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Ventricular septal defect, Cleft palate, Death in infancy, Open mouth, Flexion contracture |
OMIM:147800 |
Brachydactyly, Type B1 |
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Ventricular septal defect, Delayed eruption of permanent teeth, Vertebral fusion, Hemivertebrae, ... |
OMIM:113000 |
Lethal Congenital Contracture Syndrome Type 1 |
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Short stature, Abnormal form of the vertebral bodies, Polyhydramnios, Abnormal rib morphology, Sh... |
ORPHA:1486 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Widely spaced teeth, Ventricular septal defect, High palate, Wide mouth, Low anterior hairline, S... |
ORPHA:369891 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Death in infancy, Intrauterine growth retardation, Short philtrum, Thin ribs, Wide mouth, Short s... |
ORPHA:163966 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Smooth philtrum, Peripheral pulmonary artery stenosis, Short stature, Aortic root aneurysm, Paten... |
OMIM:617506 |
Doors Syndrome |
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Cleft palate, Sirenomelia, 11 pairs of ribs, Thin upper lip vermilion, Broad alveolar ridges, Hig... |
ORPHA:79500 |
Koolen-De Vries Syndrome |
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Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Short stature, Aortic root aneurysm, Paten... |
OMIM:610443 |
Teebi Hypertelorism Syndrome 1 |
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Omphalocele, Ventricular septal defect, Highly arched eyebrow, Short stature, Long philtrum, Atri... |
OMIM:145420 |
Mucopolysaccharidosis, Type Vi |
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Hirsutism, Anterior wedging of L1, Macroglossia, Cardiomyopathy, Prominent sternum, Inguinal hern... |
OMIM:253200 |
Chromosome 9P Deletion Syndrome |
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High, narrow palate, Ventricular septal defect, High palate, Omphalocele, Highly arched eyebrow, ... |
OMIM:158170 |
Congenital Alveolar Capillary Dysplasia |
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Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Duodenal stenosis, Abnor... |
ORPHA:210122 |
Isotretinoin-Like Syndrome |
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Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... |
ORPHA:2306 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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High palate, Anterior rib cupping, Thin ribs, Low anterior hairline, Short stature, Platyspondyly... |
OMIM:300232 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Bilateral cleft lip and palate, Omphalocele, Ventricular septal defect, Cleft upper lip, Scoliosis |
OMIM:601357 |
Myhre Syndrome |
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Abnormal lip morphology, Cleft palate, Intrauterine growth retardation, Gingival cleft, Thin verm... |
ORPHA:2588 |
Pallister-Hall Syndrome |
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Distal arthrogryposis, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, ... |
ORPHA:672 |
Cole-Carpenter Syndrome 2 |
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Pectus excavatum, High palate, Thin ribs, Short stature, Platyspondyly, Kyphosis, Oligohydramnios... |
OMIM:616294 |
Fadd-Related Immunodeficiency |
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Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Cleidocranial Dysplasia |
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Carious teeth, High, narrow palate, Short clavicles, Cleft palate, Dystrophic fingernails, Hypopl... |
ORPHA:1452 |
Weill-Marchesani Syndrome 1 |
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Ventricular septal defect, Spinal canal stenosis, Short stature, Tooth malposition, Proportionate... |
OMIM:277600 |
Robinow Syndrome, Autosomal Dominant 3 |
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Omphalocele, Cleft palate, Short stature, Patent ductus arteriosus, Cleft lip, Camptodactyly, Hyp... |
OMIM:616894 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Ventricular septal defect, Horizontal ribs, Cleft palate, Lateral clavicle hook, Pectus carinatum... |
OMIM:263520 |
Larsen Syndrome |
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Spondylolysis, Ventricular septal defect, Pectus excavatum, Cleft palate, Hypodontia, Pectus cari... |
OMIM:150250 |
Aminopterin/Methotrexate Embryofetopathy |
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Meningocele, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Short stat... |
ORPHA:1908 |
Warsaw Breakage Syndrome |
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Ventricular septal defect, High palate, Intrauterine growth retardation, Wide mouth, Tetralogy of... |
OMIM:613398 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Highly arched eyebrow, Ventricular septal defect, Smooth philtrum, Cleft palate, Low anterior hai... |
ORPHA:404440 |
Microgastria-Limb Reduction Defects Association |
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Microgastria, Aganglionic megacolon, Intestinal malrotation, Type I truncus arteriosus, Secundum ... |
OMIM:156810 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Hemivertebrae, Short stature, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sho... |
ORPHA:2234 |
Costello Syndrome |
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Hypertrophic cardiomyopathy, Thick lower lip vermilion, Ventricular septal defect, Mitral valve p... |
ORPHA:3071 |
Fryns Syndrome |
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Omphalocele, Cleft palate, Duodenal atresia, Abnormal aortic arch morphology, Abnormal aortic mor... |
ORPHA:2059 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Ventricular septal defect, High palate, Growth delay, Long philtrum, Patent ductus arteriosus, Na... |
OMIM:613457 |
Vertebral Hypersegmentation And Orofacial Anomalies |
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Pectus excavatum, Inguinal hernia, Unilateral cleft lip, Unilateral cleft palate, Supernumerary r... |
OMIM:619122 |
Campomelic Dysplasia |
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Thoracic hypoplasia, Cleft palate, Thin ribs, Hypoplastic scapulae, Neonatal short-limb short sta... |
OMIM:114290 |
Lymphatic Malformation 5 |
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Cleft palate, Yellow nails, Hypoplasia of lymphatic vessels, Facial edema, Predominantly lower li... |
OMIM:153200 |
Van Esch-O'Driscoll Syndrome |
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Ventricular septal defect, Intrauterine growth retardation, Growth delay, Short stature, Bifid uv... |
OMIM:301030 |
Mosaic Trisomy 20 |
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Ventricular septal defect, Cleft palate, Spinal canal stenosis, Dysplastic tricuspid valve, Verte... |
ORPHA:1724 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Ventricular septal defect, Cleft palate, Growth delay, Cleft upper lip, Coarctation of aorta, Pat... |
OMIM:600460 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Smooth philtrum, Cardiomegaly, Patent ductus arteriosus, Downturned co... |
OMIM:618652 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Pulmonary lymphangiectasia, Ventricular septal defect, Smooth philtrum, High palate, Alveolar rid... |
ORPHA:1655 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Abnormal heart morpholog... |
ORPHA:500159 |
Thoracolaryngopelvic Dysplasia |
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Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Short ribs, Be... |
OMIM:187760 |
Craniofaciofrontodigital Syndrome |
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Pectus excavatum, Short stature, Long philtrum, Abnormal heart morphology, Hypoplastic vertebral ... |
OMIM:114620 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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Ventricular septal defect, High palate, Pectus excavatum, Short stature, Bifid uvula, Patent duct... |
OMIM:300472 |
Fanconi Anemia, Complementation Group B |
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Ventricular septal defect, Death in infancy, Intrauterine growth retardation, Duodenal atresia, G... |
OMIM:300514 |
15Q11.2 Microdeletion Syndrome |
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Abnormal palate morphology, Ventricular septal defect, Abnormal heart morphology, Total anomalous... |
ORPHA:261183 |
Ellis-Van Creveld Syndrome |
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Horizontal ribs, Hypodontia, Pectus carinatum, Abnormality of the alveolar ridges, Cleft upper li... |
OMIM:225500 |
Bohring-Opitz Syndrome |
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Ventricular septal defect, Cleft palate, Hirsutism, Intrauterine growth retardation, Low anterior... |
OMIM:605039 |
Gm1 Gangliosidosis |
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Ventricular septal defect, Hirsutism, Cherry red spot of the macula, Long philtrum, Macroglossia,... |
ORPHA:354 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Omphalocele, Ventricular septal defect, Intrauterine growth retardation, Intestinal malrotation, ... |
OMIM:243150 |
Mucopolysaccharidosis, Type Iiia |
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Ovoid thoracolumbar vertebrae, Thickened ribs, Hirsutism, Coarse hair, Asymmetric septal hypertro... |
OMIM:252900 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
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Biconcave vertebral bodies, Short clavicles, Short stature, Rhizomelia, Short ribs, Amelogenesis ... |
OMIM:610319 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
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Highly arched eyebrow, Ventricular septal defect, High palate, Limb joint contracture, Intrauteri... |
ORPHA:505237 |
Microcephaly-Capillary Malformation Syndrome |
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Ventricular septal defect, Cleft palate, Short stature, Right ventricular hypertrophy, Atrial sep... |
|