Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Short stature, Highly arched eyebrow, Cleft palate, Intrauterine growth... |
OMIM:611867 |
Congenital Heart Defects, Multiple Types, 9 |
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Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori... |
OMIM:620294 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Abnormal thorax morphology, Cleft palate, Abnormal heart morphology, Atypical scarring of skin, A... |
ORPHA:294975 |
Genitopalatocardiac Syndrome |
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Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... |
OMIM:231060 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Anomalous origin of lef... |
OMIM:618845 |
Tricuspid Atresia |
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Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Heart Defects-Limb Shortening Syndrome |
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Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... |
ORPHA:1354 |
Autosomal Recessive Spondylocostal Dysostosis |
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Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Abnormal od... |
OMIM:277300 |
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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Ventricular septal defect, Short neck, High, narrow palate, Cleft palate, Abnormal aortic morphol... |
ORPHA:2516 |
Autosomal Dominant Spondylocostal Dysostosis |
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Severe short stature, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short ... |
ORPHA:1797 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Short stature, Pectus excavatum, Syn... |
OMIM:617877 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Fetal Trimethadione Syndrome |
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Ventricular septal defect, Synophrys, High palate, Transposition of the great arteries, Scoliosis... |
ORPHA:1913 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... |
OMIM:613686 |
Nemaline Myopathy 9 |
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Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Narrow chest, Scoliosis, Ar... |
OMIM:615731 |
Verheij Syndrome |
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Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Ventricular septal defect, Short stat... |
OMIM:615583 |
Eng-Strom Syndrome |
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Short stature, Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Abnormal car... |
ORPHA:1937 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Recombinant Chromosome 8 Syndrome |
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Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Pectus excavat... |
OMIM:179613 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... |
OMIM:608681 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Cleft palate |
OMIM:601355 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Abnormality of the philtrum, Short stature, Abnormality of the dentition, Synophrys, Abnormal rib... |
ORPHA:3268 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Synophrys, Abnormal ... |
ORPHA:401935 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Missing ribs, Hemivertebrae, Double outlet right ventricle, Cleft pala... |
OMIM:220210 |
Emanuel Syndrome |
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Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, High palate, Atria... |
ORPHA:96170 |
Cerebrofaciothoracic Dysplasia |
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Thick eyebrow, Short stature, Polyhydramnios, Short neck, Cleft upper lip, Abnormal hair pattern,... |
ORPHA:1394 |
Conotruncal Heart Malformations |
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Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D... |
OMIM:122600 |
8P23.1 Microdeletion Syndrome |
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Short stature, Congenital diaphragmatic hernia, Short neck, Patent ductus arteriosus, Pulmonary a... |
ORPHA:251071 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root aneurysm, Transpos... |
OMIM:619910 |
Emanuel Syndrome |
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Dental crowding, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Joint contra... |
OMIM:609029 |
Poland Syndrome |
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Dextrocardia, Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly |
OMIM:173800 |
Double Outlet Right Ventricle |
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Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft hard palate, Do... |
ORPHA:3426 |
Femoral-Facial Syndrome |
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Thin upper lip vermilion, Inguinal hernia, Short stature, Abnormal sacrum morphology, Rib fusion,... |
ORPHA:1988 |
Becker Nevus Syndrome |
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Lipoatrophy, Supernumerary nipple, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supe... |
ORPHA:64755 |
Cleft-Limb-Heart Malformation Syndrome |
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Truncus arteriosus |
OMIM:215850 |
Isolated Klippel-Feil Syndrome |
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Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib mor... |
ORPHA:2345 |
Cayler Cardiofacial Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Growth delay, Hypoplastic left heart, Transposition of t... |
ORPHA:1727 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Sacral dimple, Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Persi... |
OMIM:314390 |
Ververi-Brady Syndrome |
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Thin upper lip vermilion, Short stature, Wide mouth, Everted lower lip vermilion, High palate, Sc... |
OMIM:617982 |
Catel-Manzke Syndrome |
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Ventricular septal defect, Short stature, Highly arched eyebrow, Camptodactyly of finger, Pectus ... |
ORPHA:1388 |
Scimitar Syndrome |
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Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventricle, Patent ductus arteri... |
ORPHA:185 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal sacrum morphology, Cleft palate, Spinal dysraphism, Vertebral... |
ORPHA:1926 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Omphalocele, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Parachute... |
OMIM:618316 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Autosomal Recessive Robinow Syndrome |
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Tented upper lip vermilion, Short neck, Orofacial cleft, Pectus carinatum, Downturned corners of ... |
ORPHA:1507 |
Thakker-Donnai Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoeso... |
ORPHA:1780 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... |
OMIM:608978 |
Acrocardiofacial Syndrome |
|
Death in infancy, Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Cleft uppe... |
ORPHA:2008 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Short s... |
OMIM:611209 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Hypoplastic tricuspid valve, Patent forame... |
OMIM:600001 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Short neck, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great art... |
OMIM:616789 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Polyhydramnios, Short neck, Synophrys, Hemivertebrae, Low anterior hairline, High palate, Narrow ... |
OMIM:213980 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Fus... |
OMIM:214300 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... |
OMIM:617478 |
Heterotaxy, Visceral, 7, Autosomal |
|
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Thoracic a... |
OMIM:619657 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Pectus excavatum, Rib fusion, Abnormalit... |
ORPHA:2990 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Severe short stature, Ventricular septal defect, Short stature, Congenital diaph... |
OMIM:601186 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Sacral dimple, Ventricular septal defect, Short stature, Dextrotransposition of the great arterie... |
OMIM:619995 |
Carpenter Syndrome 1 |
|
Omphalocele, Sacral dimple, Ventricular septal defect, Short stature, Short neck, Persistence of ... |
OMIM:201000 |
Cardiac Diverticulum |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Short Stature And Facioauriculothoracic Malformations |
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Abnormal odontoid process morphology, Ventricular septal defect, Proportionate short stature, Sho... |
OMIM:609654 |
Lymphangiectasia, Intestinal |
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Edema, Malabsorption, Abnormal hair morphology, Pedal edema, Stillbirth, Intestinal lymphangiecta... |
OMIM:152800 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Esophageal varix, Truncus arteriosus |
OMIM:616589 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Rib fusion, Cleft palate, Abnorm... |
ORPHA:261197 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Posterior rib fusion, Atrial septa... |
OMIM:265380 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Short stature, Polyhydramnios, Thick hair, Pectus excavatum, High, nar... |
OMIM:615102 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Branchial fistula, Inguinal hernia, Ventricular septal defect, Short st... |
ORPHA:261330 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Robinow Syndrome |
|
Dental crowding, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thoracic vertebrae, ... |
ORPHA:97360 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ... |
ORPHA:2255 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... |
OMIM:615415 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Short stature, Shoulder flexion contracture, Camptodactyly of finge... |
OMIM:619110 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the dentition, Abnormal... |
ORPHA:276422 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... |
OMIM:265000 |
Sonoda Syndrome |
|
Ventricular septal defect, Short stature, Narrow mouth |
OMIM:270460 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Ventricular septal defect, Rhizomelia, Short neck, Abn... |
ORPHA:93267 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Sacral dimple, Truncus arteriosus |
OMIM:617516 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Low anterior hairline, Widel... |
OMIM:608227 |
14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Ventricular septal defect, Highly arched eyebrow, Deep philtrum, Patent ... |
ORPHA:261120 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Frontal hirsutism, Patent ductus arteriosus, High pal... |
ORPHA:3304 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... |
OMIM:313850 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Short s... |
OMIM:134780 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Polyhydramnios, Pectus excavatum, Spinal canal steno... |
OMIM:618624 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Sparse hair, Highly arched eyebrow, Cleft lip, Pulmonary art... |
OMIM:280000 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Thin upper lip vermil... |
ORPHA:508498 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Exaggerated cupid's bow, Ventricular septal defect, Highly arched eyebrow,... |
OMIM:618619 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Cleft palate, Tooth ag... |
ORPHA:1166 |
Restrictive Dermopathy |
|
Multiple joint contractures, Polyhydramnios, Atrial septal defect, Sparse hair, Sparse eyebrow, P... |
ORPHA:1662 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Cleft lip, Patent ductus arteriosus, Hemivertebrae, Double o... |
OMIM:618223 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Downturned corners of mou... |
ORPHA:280 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Pectus excavatum... |
ORPHA:392 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Short stature, Missing ribs, Postnatal growth retard... |
OMIM:206900 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Widely spaced teeth, Scoliosi... |
OMIM:619717 |
Zttk Syndrome |
|
Flexion contracture, Hemivertebrae, Downturned corners of mouth, High palate, Short philtrum, Atr... |
OMIM:617140 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Everted lower lip vermilion, ... |
OMIM:249670 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Torus p... |
ORPHA:2790 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Chime Syndrome |
|
Abnormal dental morphology, Ventricular septal defect, Aplastic clavicle, Abnormality of the dent... |
ORPHA:3474 |
Pallister-Hall Syndrome |
|
Natal tooth, Ventricular septal defect, Short stature, Cleft upper lip, Patent ductus arteriosus,... |
OMIM:146510 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Intestinal malrotation,... |
OMIM:270100 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Severe short ... |
OMIM:230500 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Achondrogenesis Type 1B |
|
Severe short stature, Femoral hernia, Polyhydramnios, Short neck, Short thorax, Abnormal rib morp... |
ORPHA:93298 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Patent du... |
ORPHA:1120 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Pectus excavatum, Patent ductus arteriosus, Ab... |
ORPHA:2970 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Swollen lip, Short neck, Neonatal death, Patent foramen ovale, Spina bifida, Clef... |
OMIM:256520 |
White Forelock With Malformations |
|
Deep philtrum, Abnormal rib morphology, White forelock, Atrial septal defect, Sprengel anomaly, S... |
ORPHA:2475 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Abnormal eyelash morph... |
ORPHA:3378 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnorma... |
ORPHA:980 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Dilation of Virchow-Robin spaces, Alopecia, Sparse eyelashes, Poly... |
ORPHA:544488 |
Cog1-Cdg |
|
Smooth philtrum, Irregularity of vertebral bodies, Thin upper lip vermilion, Rhizomelia, Kyphosco... |
ORPHA:263508 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Edema, Cleft upper lip, Polyhydramnios, Flexion co... |
OMIM:312150 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood |
OMIM:253300 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Short neck, Cardiom... |
OMIM:617022 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Pectus excavatum, Patent duct... |
OMIM:618330 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... |
ORPHA:2515 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Cleft lip, Cleft pa... |
OMIM:616898 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Cleft upper lip, Hiatus hernia, Malabsorptio... |
ORPHA:50 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Thick lower lip vermilion, Low... |
OMIM:612946 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Abnormal form of the vertebral bod... |
ORPHA:371428 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Abnormal rib morphology, Cleft palate, Wide mouth, Ectopic a... |
ORPHA:1703 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Short stature, Polyhydramnios, Hirsutism, Megarectum, Hypodontia, Pulm... |
OMIM:301056 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, E... |
OMIM:192350 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Short neck, Cleft maxillary alveolar ridge, Narrow chest, Atr... |
ORPHA:508488 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Intrauter... |
OMIM:616276 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Edema, Polyhydramnios, Disproportionat... |
OMIM:200610 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Edema, Polyhydramnios, Hydrops fetalis, Stillbirth, Narrow chest, Short ribs, Ab... |
OMIM:600972 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... |
ORPHA:477817 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Ventricular septal defect, Polyhydramnios, Short neck, Beaded ribs, Cardi... |
OMIM:616897 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Thick vermilion border, Pulmonic stenosis, Long... |
ORPHA:251076 |
Kbg Syndrome |
|
Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short stature, Short neck, Synophrys, ... |
OMIM:148050 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Wide mouth, S... |
OMIM:615279 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Disproportionate short s... |
ORPHA:1801 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology, Edema |
ORPHA:97330 |
German Syndrome |
|
Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Short neck, Lymphedema, Syno... |
ORPHA:2077 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect, Generalized hirsutism |
ORPHA:1918 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis,... |
OMIM:253800 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect... |
ORPHA:567 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Vertebral clefting, Submuc... |
OMIM:301043 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Thoracic hemivertebrae, V... |
OMIM:268310 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Flexion contracture, Cleft ... |
OMIM:253290 |
Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Broad clavicles, Diastema, Open bite,... |
OMIM:619698 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Ky... |
OMIM:249420 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Absent o... |
ORPHA:66637 |
3C Syndrome |
|
Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tricuspid valve morphol... |
ORPHA:7 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Synophrys, Widely spaced teeth, High palate, Atrial septal def... |
OMIM:612474 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Cleft upper lip, Hiatus hernia, Postnatal growth ret... |
OMIM:304050 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Abnormal dental enamel morphology, Short stature, Hyperlordosis,... |
ORPHA:582 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation defect,... |
OMIM:312870 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Short stature, Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large place... |
ORPHA:254534 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... |
OMIM:616652 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegal... |
ORPHA:1517 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Patent foramen ovale, Posterior vertebral hypoplasia, Rhizomelia, Sh... |
OMIM:228520 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Ab... |
ORPHA:2876 |
Kbg Syndrome |
|
Vertebral fusion, Thin upper lip vermilion, Macrodontia, Short stature, Abnormal hair pattern, Sh... |
ORPHA:2332 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Ventricular septal defect, Short stature, Intestinal atresia |
OMIM:614326 |
Noonan Syndrome 8 |
|
Curly hair, Ventricular septal defect, Short stature, Polyhydramnios, Short neck, Patent ductus a... |
OMIM:615355 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Hypoplastic left heart, Disproportionate shor... |
ORPHA:2772 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... |
OMIM:612561 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Lymphedema, P... |
OMIM:601927 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Missing ribs, Camptoda... |
ORPHA:1488 |
Noonan Syndrome 2 |
|
Polyhydramnios, Short neck, Pectus carinatum, Abnormal sternum morphology, High palate, Atrial se... |
OMIM:605275 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Jejunal atresia, Short stature |
ORPHA:391646 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Pectus excavatum, Abnormalit... |
ORPHA:96167 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Dental crowding, Fetal ascites, Ascending aorta hypoplasia, Deep ph... |
OMIM:619503 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Short stature, Anomalous origin of left coronary artery from the pulmonar... |
ORPHA:2326 |
Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Short neck, Abnormal ey... |
ORPHA:1425 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Severe short stature, Macrodontia, Pectus excavatum, Hig... |
ORPHA:3242 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Severe short stature, Femoral hernia, Polyhydramnios, Short neck, Short t... |
ORPHA:93299 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Patent ductus arteriosu... |
OMIM:612562 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Edema, Short neck, Mesomelic/rhizomelic limb shortening, Polyhydramnios, Cl... |
ORPHA:2347 |
Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Anteriorly placed anus, Glossoptosis, High palate, Atrial septal defect, Rib gap,... |
OMIM:117650 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Sparse scalp hair, Severe short st... |
OMIM:270450 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Long philtrum, Atrial septal ... |
OMIM:619189 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Coarctation of aorta, Anteriorly placed anus, Abnormal vertebral morphol... |
ORPHA:280195 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth, Short philtr... |
OMIM:194190 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Short stature, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin ... |
OMIM:615502 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped r... |
OMIM:156530 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Short neck, Patent ductus arteriosus, Alveolar ridg... |
OMIM:612938 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Polyhydr... |
OMIM:608149 |
Filippi Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Hypertrichosis, Thin vermilion border, S... |
OMIM:272440 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short stature, Abnormality of the dentition, Kyphosis... |
ORPHA:261190 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Cleft lip, Cleft palate, Scoliosis... |
ORPHA:398156 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Disproportionate short-... |
OMIM:259440 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal number of hair whorls, Mitral atresia, Patent ductus arteriosus, Double outlet right ven... |
OMIM:618164 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, High... |
ORPHA:329224 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Pectus carinatum, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Flaring ... |
OMIM:253000 |
Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaph... |
ORPHA:261344 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Short neck, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narrow chest, Neonatal d... |
OMIM:269860 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Ventricular septal defect, Abnormal hair whorl, Deep philtrum, Patent duct... |
ORPHA:163956 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Aplastic clavicle, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra... |
ORPHA:2538 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Carpenter Syndrome 2 |
|
Short neck, High, narrow palate, Low anterior hairline, Pectus carinatum, Knee flexion contractur... |
OMIM:614976 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Short stature, Hyperlordosis, Pectus ex... |
ORPHA:2522 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Patent ductus arteriosus, Growth delay, Atrial septal defect, Double outlet right ... |
OMIM:614886 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Short stature, Kyphoscoliosis, Edema, Pectus excavatum, Cleft lip, Dil... |
OMIM:618348 |
3M Syndrome |
|
Delayed eruption of teeth, Scapular winging, Thick eyebrow, Short stature, Abnormal dental enamel... |
ORPHA:2616 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Pierre-Robin sequenc... |
OMIM:619980 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... |
OMIM:153400 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Highly arched eyebrow, Cleft palate, Downturned corners of mouth, Ecto... |
ORPHA:94066 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Muscular ventricular s... |
OMIM:157800 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Intrauterine growth retardation, Abnormal rib morphology, Abnormal palate morphology |
ORPHA:1506 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Increased nuchal translucency, Wide mouth, Scoli... |
OMIM:617635 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Inguinal hernia, Ventricular septal defect, Polyhydra... |
OMIM:235255 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Short stature, Hyperlordosis, Pectus excavatum, Pate... |
OMIM:618870 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Short stature |
ORPHA:1513 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Orofacial cleft, High palate, Atrial septal defect, Patent fora... |
OMIM:607872 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Abnormal rib morphology, Downturned corners of mouth, Intrauterine growth r... |
ORPHA:2643 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short stature, Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Abnormal rib mo... |
ORPHA:3082 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... |
ORPHA:1335 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... |
OMIM:602196 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Bicuspid aortic valve, Ventricular se... |
OMIM:618027 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Short... |
OMIM:617452 |
1P36 Deletion Syndrome |
|
Generalized hirsutism, Abnormality of the anus, Short stature, Patent ductus arteriosus, Dilated ... |
ORPHA:1606 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Anal atresia |
ORPHA:3469 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Severe short stature, Highly arched eyebrow, Abnormal rib morphology... |
ORPHA:2319 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Mild pos... |
ORPHA:168549 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:93941 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Dental crowding, Intestinal malrotation, Ventricular septal defect... |
OMIM:617602 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Ab... |
ORPHA:79345 |
Grant Syndrome |
|
Short stature, Open bite, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of... |
ORPHA:2097 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Down Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Short stature, Protruding tongue, Complete atri... |
OMIM:190685 |
Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Wide mouth, Branchial anomaly, Intrauterine growth re... |
ORPHA:1296 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Short neck, Abnormal rib morphology, Low posterior hairline, Vertebral segmentatio... |
ORPHA:2578 |
Lateral Meningocele Syndrome |
|
Dental crowding, Bicuspid aortic valve, Short neck, Coarse hair, High palate, Vertebral fusion, S... |
OMIM:130720 |
Noonan Syndrome 10 |
|
Curly hair, Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Sparse eyebro... |
OMIM:616564 |
Roifman Syndrome |
|
Thin upper lip vermilion, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular se... |
OMIM:616651 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... |
ORPHA:2476 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morphology, Abnorma... |
ORPHA:628 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, S... |
OMIM:612530 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Ventricular septal defect, ... |
ORPHA:85194 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Missing ribs, Abno... |
ORPHA:2759 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Polyhydramnios, Beaded ribs, Short... |
OMIM:200600 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Abnormal rib morpholog... |
ORPHA:2519 |
Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Curly hair, Ventricular septal defect, Short stature, Polyh... |
OMIM:610733 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Broad eyebrow, Ventricular septal defect, Short stature, Postnatal... |
OMIM:620113 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short stature, Postnatal growth retardation, Broad se... |
ORPHA:3369 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Kyphoscoliosis, Cleft palate, Lobulated tongu... |
OMIM:614815 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Patent ductus arteriosus,... |
ORPHA:52055 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Abnormal r... |
ORPHA:2021 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Synophrys, Ovoid thoracolumbar vertebrae, Asymmetric septal hyper... |
OMIM:252930 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short stature, Severe short st... |
OMIM:612921 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Hori... |
OMIM:615633 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Inguinal hernia, Ventricular septal defec... |
OMIM:178110 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality of the vertebr... |
OMIM:601076 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum,... |
ORPHA:2847 |
Vacterl/Vater Association |
|
Omphalocele, Occipital encephalocele, Abnormal intervertebral disk morphology, Polyhydramnios, Co... |
ORPHA:887 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Congenital ... |
ORPHA:958 |
Chromosome 5Q12 Deletion Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Postnatal growth retardation, Patent ductus... |
OMIM:615668 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Thick eyebrow, Dental crowding, Ventricular septal de... |
OMIM:617061 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Omphalocele, Short stature, Short thorax, Abnormal rib morphology, Abn... |
ORPHA:2484 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Kyphoscoliosis, Short neck, Deep ... |
OMIM:619542 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Synophrys, Ovoid thoracolumbar vertebrae, Asymmetric septal hype... |
OMIM:252900 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Lateral clavicle hook, Orofacial cleft, Bell-shaped tho... |
OMIM:615630 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl... |
OMIM:618494 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Abnormal rib morphology, Cleft palate, Intrauterine growth retardation, Oligohydra... |
ORPHA:2145 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Rectal prolapse, Conical inciso... |
OMIM:235510 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Cleft palate, Low posterior hairline, Scoliosis, Cervical C2... |
OMIM:118100 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Lymphedema, Abnormal thorax morphology, Abnormal... |
ORPHA:1318 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Digeorge Syndrome |
|
Pilonidal sinus, Inguinal hernia, Ventricular septal defect, Short stature, Femoral hernia, High,... |
OMIM:188400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hemivertebrae, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Lu... |
ORPHA:500150 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Severe short stature, Anterior rib cupping, Hyperlordosis, Hypoplasia of the odo... |
OMIM:184250 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Short stature, Abnormal rib morphology, Anal atresia |
ORPHA:195 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Ventricular sep... |
OMIM:600987 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Pectus excavatum, Fac... |
OMIM:616843 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... |
OMIM:619472 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Polyhydramnios, Wide-cupped costochondral junctions, Platyspond... |
OMIM:187601 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal rib morphology, Cleft p... |
ORPHA:2167 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Short stature, Spina bifida, Kyphosis, Myelomeningoc... |
ORPHA:1393 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, Short stature, High palate, Broad alveolar ridges |
OMIM:314320 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Abnormal thorax morphology, Anomalous pulmonary venous return, Hernia o... |
ORPHA:2184 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short statu... |
OMIM:614294 |
Transaldolase Deficiency |
|
Ventricular septal defect, Short neck, Deep philtrum, Patent ductus arteriosus, Synophrys, Coarct... |
OMIM:606003 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Pectus excavatum, Pectus carinatum, Aortic root aneurysm, Short philtr... |
OMIM:301039 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2234 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, High, narrow palate, Deep phi... |
ORPHA:435638 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal form of the v... |
ORPHA:2180 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Short neck, Pectus excava... |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... |
ORPHA:3405 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Short stature, Abnormality of th... |
ORPHA:1596 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
Wolcott-Rallison Syndrome |
|
Short stature, Dehydration, Growth delay, Atrial septal defect, Double outlet right ventricle, As... |
ORPHA:1667 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... |
OMIM:126320 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Congenital kyphoscoliosis, Bicuspid aortic valve, Ventricular septal defect, Kyp... |
OMIM:121050 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Pectus carinatum, High palate, Atrial septal defect, Patent foramen o... |
OMIM:615582 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Short stature, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormal r... |
ORPHA:1834 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, N... |
OMIM:617895 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Burn-Mckeown Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short stature, Cleft upper lip, Cleft palate, Thin ve... |
OMIM:608572 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Ventricular septal defect, Short stature, Pulmonary artery stenosis, Coar... |
ORPHA:75389 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the odontoi... |
OMIM:253010 |
Triploidy |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Short neck, Non-midline cleft lip, Meningoce... |
ORPHA:3376 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Highly arched eyebrow, Patent ductus arterios... |
OMIM:618142 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short stature, Short thorax, Abnormal rib morphology, Abnormal ster... |
ORPHA:474 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Thick eyebrow, Short stature, Intestinal malrotation, Highly arched eye... |
OMIM:614701 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Atrial septal defect, Co... |
OMIM:300166 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Short philtrum, Atrial septa... |
OMIM:617360 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Narrow mouth, Everted lower lip vermilion, Long... |
ORPHA:228399 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Vertebral fusion, ... |
OMIM:610443 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hemive... |
ORPHA:77298 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Short neck, Abnormal heart valve... |
ORPHA:99776 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Thick eyebrow, Inguinal hernia, Ventricular septal defect, Highly arche... |
OMIM:618950 |
Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Abnormal rib morphology, Abnorma... |
ORPHA:52 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Polyhydramnios, Short neck, Thin ... |
OMIM:151210 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Abnormal heart valve morphology, Short stature, C... |
ORPHA:93473 |
Kury-Isidor Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Alopecia, Short neck, Growt... |
OMIM:619762 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Brittle hair, Dental crowding, Postnatal growth retardation, Pierre-Robin seque... |
OMIM:619184 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta... |
ORPHA:1923 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Hydrops fetalis, Pectus carinatum, Coarse hair, ... |
OMIM:253220 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip ve... |
ORPHA:583 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Short neck, Low anterior hairline, Abnormal heart morph... |
ORPHA:369891 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Short stature, Ventricular septal defect, Postnatal growth retardation, Cleft palate, Coarctation... |
OMIM:620210 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Short neck, Deep philtrum, Pectus carinatum, Coarse hair, High palate, Widely spa... |
OMIM:617506 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus... |
OMIM:617751 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Rib fusion, Cleft palate, Perineal fistula, Anteriorly place... |
OMIM:218600 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Synophrys, Growth delay, High palate, Short philtrum, Hernia, Tetralog... |
ORPHA:3306 |
Pallister-Hall Syndrome |
|
Natal tooth, Inguinal hernia, Ventricular septal defect, Short stature, Accessory oral frenulum, ... |
ORPHA:672 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Shor... |
OMIM:244300 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Dental crowding, Ventricular septal defect, Hyperlordosis, Pectus excavatum, Sho... |
ORPHA:2789 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
17Q12 Microduplication Syndrome |
|
Polyhydramnios, Synophrys, Tracheoesophageal fistula, Cleft palate, Atrial septal defect, Abnorma... |
ORPHA:261272 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Polyhydramnios, Short neck, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:1486 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... |
ORPHA:139466 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Short stature, Death in adolescence |
OMIM:122860 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Hypoplastic scapulae, Short stature, Down-sloping shoulders, Abnormal ... |
ORPHA:1452 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, Short stature, Highly arched eyebrow, Slow-growing hair, Pectus excava... |
OMIM:272950 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Macrodontia, Thoracolumbar kyphoscoliosis, Ventricular septal defect, Short neck, ... |
OMIM:212066 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Hemivertebrae, Low anterior hairline, Downturned corners ... |
ORPHA:79500 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Po... |
OMIM:300963 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Anterio... |
OMIM:617159 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Non-midline clef... |
ORPHA:1908 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Short stature, Congenital diaphragmatic hernia, N... |
ORPHA:1915 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Broad ribs, Spina bifida occu... |
OMIM:300373 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Miscarriage, Short neck, Flexion contracture, Hirsutism, Hyd... |
ORPHA:1865 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Short stature, Rhizomelia, Thin ribs, Wide mouth, Platyspondyly, Short philtrum... |
ORPHA:163966 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Cardiomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertr... |
OMIM:252920 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Patent ductus arteriosus, Coarctation of aorta, Bell-shaped thorax, Growth delay... |
OMIM:614857 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:2059 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... |
OMIM:614262 |
Myhre Syndrome |
|
Inguinal hernia, Severe short stature, Femoral hernia, Submucous cleft hard palate, Abnormal rib ... |
ORPHA:2588 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth |
OMIM:147800 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Highly arched eyebro... |
ORPHA:404440 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Short neck, Syno... |
OMIM:620369 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Tarp Syndrome |
|
Pectus excavatum, Subdural hemorrhage, Tetralogy of Fallot, Cleft palate, Tongue nodules, Glossop... |
OMIM:311900 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Supernumerary nipple, Pectus excavatum, Widow's peak, Submucou... |
OMIM:619122 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short stature, Highly arched ... |
ORPHA:505237 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Wide mouth, High palate, Intrauterine gr... |
OMIM:613398 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Highly arched ... |
OMIM:158170 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... |
OMIM:113000 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... |
OMIM:220500 |
Catel-Manzke Syndrome |
|
Short neck, Pectus carinatum, Glossoptosis, High palate, Bifid uvula, Overriding aorta, Cleft upp... |
OMIM:616145 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Kyphosis, Cleft palate, P... |
OMIM:616449 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Hyperl... |
OMIM:617450 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Lymphatic Malformation 5 |
|
Predominantly lower limb lymphedema, Facial edema, Yellow nails, Cleft palate, Hypoplasia of lymp... |
OMIM:153200 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus... |
ORPHA:500159 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Complete atrioventric... |
OMIM:619343 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Lumbar kyphosis, High palate, Long philtrum, Atrial sep... |
OMIM:620184 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Lateral... |
OMIM:263520 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Kyphosis, Cleft lip, Dysplas... |
ORPHA:1724 |
Coffin-Siris Syndrome 4 |
|
Short philtrum, Atrial septal defect, Pulmonary artery atresia, Short stature, Patent ductus arte... |
OMIM:614609 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Downturned corners of mouth, A... |
OMIM:618652 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Knee flexion contracture, High palate, Wrist flexion contracture, Scapu... |
OMIM:305620 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham... |
OMIM:174300 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Pect... |
OMIM:225500 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle ... |
ORPHA:2306 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Anteriorly placed anus, Downturned corners of mouth, Pulmona... |
OMIM:616894 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Omphalocele, Rhizomelia, Hamartoma of tongue, Sparse eyebrow, Cleft l... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Short lingual frenulum, Short stature, Short uvula, Hydrops fetalis, Cleft ... |
OMIM:614091 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth |
ORPHA:83473 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Synophrys, Downturned corners ... |
OMIM:618067 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Low... |
OMIM:619909 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Proportionate short stature, Pate... |
OMIM:277600 |
Charge Syndrome |
|
Polyhydramnios, Secundum atrial septal defect, Hemivertebrae, Atrial septal defect, Pulmonary art... |
OMIM:214800 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Polyhydramnios, Pectus excavatum, Large pl... |
ORPHA:254528 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Short stature, Short neck, Abnormal... |
ORPHA:3071 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Short neck,... |
ORPHA:1655 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... |
ORPHA:284169 |
Chromosome 18Q Deletion Syndrome |
|
Short neck, Low anterior hairline, Downturned corners of mouth, Short philtrum, Atrial septal def... |
OMIM:601808 |
Cohen Syndrome |
|
High, narrow palate, Low anterior hairline, Short philtrum, Short stature, Abnormal eyelash morph... |
ORPHA:193 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Polyhydramnios, Flexion contracture, Subdural hemorrhage, Thin ribs, Congenital... |
OMIM:615368 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft uppe... |
OMIM:264480 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short stature, Short neck, Pectus excavatum, ... |
OMIM:300472 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Severe short stature, Exaggerated cupid's bow, Camptodactyly of finger, Polyhydr... |
ORPHA:2215 |
Bohring-Opitz Syndrome |
|
Polyhydramnios, Flexion contracture, Low anterior hairline, Atrial septal defect, Short stature, ... |
OMIM:605039 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Short neck, Esophageal atresia, Patent ductus arteri... |
OMIM:300514 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Pectus excavatum, Kyphosis, Postnatal growth retardation, Thin ribs, Platyspondyly... |
OMIM:616294 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Inguinal hernia, Rhizomelia, Submucous cleft hard palate, Disproportionate short stature, Flexion... |
OMIM:222765 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Short neck, Lateral clavicle hook, Cleft lip, Esophageal divert... |
OMIM:617925 |
Noonan Syndrome 9 |
|
Curly hair, Short stature, Ventricular septal defect, Short neck, Sparse eyebrow, Coarctation of ... |
OMIM:616559 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Absent pulmonary artery, Cl... |
OMIM:600460 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Hyperlordosis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus carinatu... |
ORPHA:3068 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Inguinal hernia, Dilation of Virchow-Robin spaces, Dental crowding, Ven... |
OMIM:300998 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Prominent superficial veins, Alopecia, Dental crowding, Left atrial enlargemen... |
OMIM:614008 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Sparse eyelashes, Cleft upper lip, Conical t... |
OMIM:106260 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of the dentition, Kyphosis, Gingival overgrowth, Umbilical... |
OMIM:169400 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, T... |
OMIM:615879 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short stature, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:300232 |
Greenberg Dysplasia |
|
Polyhydramnios, Beaded ribs, Hydrops fetalis, Hypoplastic vertebral bodies, Narrow chest, Absent ... |
OMIM:215140 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, Dental malocclusio... |
OMIM:608940 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Ventricular septal defect |
OMIM:616816 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Short stature, Spina bifida, Congenital diaphragmatic her... |
ORPHA:3380 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Ventricular septal defect, Short stature, Camptodactyly of finger, Hyperlordosis... |
ORPHA:354 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal r... |
ORPHA:2050 |
Larsen Syndrome |
|
Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Short stature, Cleft upper lip, P... |
OMIM:150250 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Rectal fistula, ... |
OMIM:115470 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Abnormal rib morphology, Camptodactyly of finger, Short stature |
ORPHA:1836 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Gingival overgrowth, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bod... |
ORPHA:79255 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short stature, Velopharyngeal insufficiency, Submucou... |
OMIM:192430 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... |
OMIM:252940 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Ventric... |
ORPHA:1458 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, Kyphosis, Synophrys, Cleft palate, Thin vermilion border, ... |
ORPHA:254346 |
Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Disproporti... |
OMIM:166210 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Short neck, Synophrys, Low anterior hairline, Downturned corners of mouth,... |
OMIM:610759 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Kyphoscoliosis, Cle... |
OMIM:109400 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Micr... |
OMIM:601005 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:617201 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Ventricular septal defect, Short stature, Kyphoscolio... |
ORPHA:2962 |
Schwartz-Jampel Syndrome |
|
Polyhydramnios, Short neck, Low anterior hairline, Pectus carinatum, High palate, Wrist flexion c... |
ORPHA:800 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia... |
ORPHA:2328 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis, Cleft palate, Thin ribs, Arthrogryposis multiplex conge... |
OMIM:618265 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Esophageal ... |
OMIM:614576 |
Diamond-Blackfan Anemia 10 |
|
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic... |
OMIM:613309 |
Giant Cell Arteritis |
|
Pericarditis, Alopecia, Vasculitis, Aortic dissection, Glossitis, Abdominal aortic aneurysm, Doub... |
ORPHA:397 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Short stature, Abnormality of the philtrum, Abnormal hair pattern, Non... |
ORPHA:1770 |
Lymphangiectasia, Pulmonary, Congenital |
|
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Pectus excav... |
OMIM:265300 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Irregular vertebral endplates,... |
OMIM:609616 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short stature, Short neck, Postnatal growth retardation, Sparse eyebrow, P... |
ORPHA:3338 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
Hypophosphatasia |
|
Abnormal rib morphology, Narrow chest, Short stature, Abnormality of the dentition |
ORPHA:436 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, Increased intervertebral space, Prema... |
OMIM:224300 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li... |
OMIM:616920 |
Cartilage-Hair Hypoplasia |
|
Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Narrow chest, Sparse hair, A... |
ORPHA:175 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Omphalocele, Abnormal heart valve morphology, Camptodactyly of finger, Myelomening... |
ORPHA:90652 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Death in infancy, Sparse scalp hair, Ventricular septal defect, Short stature, Spars... |
OMIM:616901 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Thin ribs, Platyspondyly, Intrauterine growth retard... |
OMIM:300863 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Short stature, Scoliosis, Thin ribs |
OMIM:615220 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pleural effusion, Increased nuchal translucency... |
ORPHA:453499 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Short st... |
ORPHA:1782 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Arthrogryposis multiple... |
OMIM:607598 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Short stature, Rhizomelia, Pyloric s... |
OMIM:613848 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Pectus excavatum, Patent ductus arterio... |
OMIM:609942 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Kyphosis, Vascular ring, Knee flexion contracture,... |
OMIM:603387 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:613870 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Intestinal malrotation, Abnormal rib morphology, Intr... |
ORPHA:3035 |
Myhre Syndrome |
|
Short neck, Short philtrum, Sparse hair, Atrial septal defect, Broad ribs, Vertebral fusion, Shor... |
OMIM:139210 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Cleft palate, Growth delay, Thick vermilion border, Sh... |
ORPHA:447980 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Polyhydramnios, Lateral clavicle hook, Thoracic dysplas... |
OMIM:615503 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, I... |
OMIM:243150 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Atrial septal defect, Abnormal hair quantity, Ventricular septal defec... |
ORPHA:289 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Intraut... |
ORPHA:290 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... |
OMIM:611812 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Pleural ... |
OMIM:617397 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Large placenta, Abnormal thorax morphol... |
ORPHA:1708 |
C Syndrome |
|
Omphalocele, Fused sternal ossification centers, Ventricular septal defect, Short stature, Access... |
OMIM:211750 |
Ogden Syndrome |
|
Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Postnatal growth retarda... |
ORPHA:276432 |
Woods Syndrome |
|
Frontal hirsutism, Thin vermilion border, Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Poland Syndrome |
|
Encephalocele, Dextrocardia, Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosi... |
ORPHA:2911 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Abnormal rib morphology, Disproportionate short-limb short stature, Pectus carinatum |
ORPHA:93351 |
Chops Syndrome |
|
Curly hair, Ventricular septal defect, Short stature, Thick hair, High, narrow palate, Patent duc... |
OMIM:616368 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Thick eyebrow, Dental crowding, Ventricular septal defect, Highly arche... |
OMIM:619312 |
Noonan Syndrome 1 |
|
Short neck, Lymphedema, High, narrow palate, Abnormal sternum morphology, High palate, Atrial sep... |
OMIM:163950 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Pectus excavatum, Synophrys, Hirsutism, Thin ribs, Low posterior hairline, High pal... |
ORPHA:2463 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus,... |
OMIM:613680 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Mosaic Trisomy 1 |
|
Omphalocele, Thoracic scoliosis, Ventricular septal defect, Camptodactyly of finger, Polyhydramni... |
ORPHA:1692 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Pectus excavatum, Deep phil... |
OMIM:309520 |
Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodie... |
ORPHA:818 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft... |
OMIM:618021 |
Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Edema, Myocarditis, Vas... |
ORPHA:2331 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hernia, Ventricular septal defect, Smooth philtrum |
OMIM:602501 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Short neck, Atrial septal defect, Broad ribs, Cleft u... |
OMIM:229850 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Short stature, Clef... |
ORPHA:261236 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Short stature, Abnormal hair whorl, Cleft palate, Atrial septal defect... |
OMIM:614261 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Femoral hernia, Highly arched eyebrow, Protruding tongue, Synophrys, Conotruncal... |
ORPHA:96147 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Polyhydramnios, Short neck, Deep philtrum, Flexion contracture, Hemiv... |
ORPHA:96334 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect, Short stature |
ORPHA:49827 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short stature, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Lateral clavicle hook, Pectus excavatum, Dental malocclusion, Narrow palate, Thi... |
OMIM:182212 |
Hajdu-Cheney Syndrome |
|
Short neck, Synophrys, Low anterior hairline, Pectus carinatum, Downturned corners of mouth, Coar... |
ORPHA:955 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Short stature, Accessory oral frenulum, Polyhydramnios, Supernumerary tooth, Pa... |
OMIM:617088 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Alopecia, Abnormal dental morphology, Abnormal dental en... |
ORPHA:2092 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Polyhydramnios, Thin ribs, High palate, Neonatal death |
OMIM:300219 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Congenital diaphragmatic hernia, Pulmon... |
OMIM:616777 |
Filippi Syndrome |
|
Severe short stature, Ventricular septal defect, Short stature, Supernumerary nipple, Growth dela... |
ORPHA:3255 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Thin upper lip vermilion, Ventricular septal defect, Short stature, Patent d... |
OMIM:300712 |
3Mc Syndrome 1 |
|
Omphalocele, Sacral dimple, Dental crowding, Ventricular septal defect, Highly arched eyebrow, Cl... |
OMIM:257920 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Synophrys, Downturned corners of mouth, Coarse hair, High palate... |
OMIM:618268 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short stature, Paten... |
ORPHA:457193 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Pectus carinatum, Broad ribs, Anterior wedging of L1, Lumbar hyperlordosis, ... |
OMIM:253200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricu... |
ORPHA:464738 |
Radio-Renal Syndrome |
|
Severe short stature, Short neck, High, narrow palate, Abnormal rib morphology, Abnormal form of ... |
ORPHA:3015 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Proportionate short stature, Pate... |
OMIM:608328 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, S... |
OMIM:145420 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Synophrys, Long eyelashes, Scoliosis, Arth... |
OMIM:614961 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p... |
OMIM:616730 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Bicuspid aortic v... |
ORPHA:261494 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Ventricular septal defect, Short stature, Camptodactyly of finger, ... |
ORPHA:3138 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial ... |
OMIM:249270 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Vertebral segmentation defect, High palate, Atrial septal defect... |
ORPHA:2745 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Irregular vertebral endplates, Shoulder dislocation, High palate... |
OMIM:143095 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Atrial septal d... |
OMIM:611134 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Hernia, Atrial septal defect, Patent ductus arteriosus, Prominent eyelashe... |
ORPHA:1465 |
Simpson-Golabi-Behmel Syndrome |
|
Polyhydramnios, Short neck, Congenital diaphragmatic hernia, High, narrow palate, Vertebral segme... |
ORPHA:373 |
Bent Bone Dysplasia Syndrome 2 |
|
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Atrial ... |
OMIM:620076 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricula... |
OMIM:608670 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Short neck, Hydrops fetalis, Fused teeth, High palate, Narrow chest, Widely space... |
OMIM:613610 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Short neck, High, narrow palate, Synophrys, Downturned corners o... |
OMIM:122470 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Polyhydramnios, Short neck, High, narrow palate, Congenital contracture, High ... |
OMIM:208150 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Marden-Walker Syndrome |
|
Severe short stature, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Pectus ex... |
ORPHA:2461 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Sparse scalp hair, Severe short stature, Bicuspid aortic valve, Ovoid vertebral... |
OMIM:271640 |
Meier-Gorlin Syndrome 1 |
|
Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, Pectus carinatum, ... |
OMIM:224690 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Short stature, Rhizomelia, Beaded ribs, Tooth agenesis, Platyspondyly, Na... |
OMIM:616229 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Ovoid vertebral bodies, Intestinal malrotati... |
OMIM:244450 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Short neck, Abnormal rib morphology, Cleft palate, Verteb... |
ORPHA:96061 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short stature, Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Na... |
OMIM:618395 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Fused cervical vertebrae, Abnormal cardiac septum morphology, Cervical ribs, Scolio... |
ORPHA:3320 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Kyph... |
ORPHA:77301 |
Osteogenesis Imperfecta, Type Xviii |
|
Abnormality of the dentition, Thin ribs, Long eyelashes, Biconcave vertebral bodies, Umbilical he... |
OMIM:617952 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Polyhydramnios, Missing ribs, Abnormal rib morphology, Orofacial c... |
ORPHA:3301 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Aplastic clavicle, Short neck, Hamartoma of tongue, Polyhydramnios, Cong... |
OMIM:616546 |
Hajdu-Cheney Syndrome |
|
Short neck, Synophrys, High palate, Premature loss of teeth, Short stature, Patent ductus arterio... |
OMIM:102500 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Atrial septal defect, Ectopia cordis, Spina bifida occulta, Apla... |
ORPHA:2369 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Synoph... |
OMIM:602535 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Fine hair, Wide mouth, Growth delay, Sparse or a... |
ORPHA:217346 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Rectoureth... |
OMIM:300000 |
Mgat2-Cdg |
|
Dental crowding, Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus arteriosus,... |
ORPHA:79329 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Absent nipple, Kyphoscoliosis, Missing ribs, Congenital diaphragmatic herni... |
OMIM:200980 |
Aspergillosis |
|
Abnormal rib morphology, Intracranial hemorrhage, Abnormality of the vertebral column, Stroke, Pl... |
ORPHA:1163 |
Xylt1-Cdg |
|
Short stature, Synophrys, Cleft palate, Growth delay, Thick vermilion border, Short clavicles, Lo... |
ORPHA:370930 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... |
ORPHA:99095 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Thin clavicles, Postnatal growth retardation, Thin ribs, Growth delay, Intrauterin... |
ORPHA:93324 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, Dental crowding, Abnormality of upper lip vermillion, Ventricular septal de... |
ORPHA:251028 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Thin ribs, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bo... |
OMIM:259420 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Ventricular septal defect, Short neck, Scoliosis, Narrow vertebral interpedicul... |
OMIM:620073 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Flexion contracture, Abnormal form of the vertebr... |
ORPHA:666 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Patent ductus ... |
ORPHA:452 |
Dextrocardia |
|
Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnormal rib morphology, Abnormal h... |
ORPHA:1666 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Lip pit, Non-midline cleft lip, Fibrous syngnathia, Abnormal rib morpho... |
ORPHA:1300 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Death in infancy, Omphalocele, Short stature, Spina ... |
ORPHA:991 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Pectus excav... |
ORPHA:1519 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... |
ORPHA:457279 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Sparse e... |
ORPHA:1071 |
Dyggve-Melchior-Clausen Disease |
|
Severe short stature, Glenoid fossa hypoplasia, Rhizomelia, Short neck, Horizontal inferior borde... |
ORPHA:239 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft ... |
ORPHA:2473 |
Distal Deletion 19P |
|
Alopecia, Vaginal hernia, Ventricular septal defect, Cleft palate, Keloids, Short philtrum, Tricu... |
ORPHA:96129 |
Kagami-Ogata Syndrome |
|
Omphalocele, Pursed lips, Inguinal hernia, Kyphoscoliosis, Short neck, Postnatal growth retardati... |
ORPHA:254519 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short stature, Camptodactyly of finger, Short neck, A... |
ORPHA:251014 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Brittle hair, Macrodontia, Ventricular septal defect, Short stature, Pe... |
OMIM:309500 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Carious teeth, Thin clavicles, Thin ribs, Birth leng... |
OMIM:244460 |
Hyperparathyroidism, Transient Neonatal |
|
Inguinal hernia, Polyhydramnios, Patent ductus arteriosus, Undulate ribs, Thin ribs, Stroke, Shor... |
OMIM:618188 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Ventricular septal defect, Pectus excavatum, Secundum atrial septal defect, P... |
OMIM:142900 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Abnormal rib morphology, Abnormal form of... |
ORPHA:3258 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:218350 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, ... |
OMIM:620025 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Abnormality of the anus, Death in infancy, Sho... |
ORPHA:2308 |
Severe Congenital Nemaline Myopathy |
|
Polyhydramnios, Edema of the dorsum of hands, Increased connective tissue, Abnormal thorax morpho... |
ORPHA:171430 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
High palate, Polyhydramnios, Thin ribs |
ORPHA:456328 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Flexion contracture, Thin ribs, Narrow mouth, Mild short stature |
OMIM:614833 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral valve calcification, Short stature, Pectus excavatum, Intra-oral hyperpigmentation, Postna... |
OMIM:619127 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, Orofacial cleft... |
ORPHA:1647 |
Occipital Horn Syndrome |
|
Broad clavicles, Pectus excavatum, Kyphosis, Hiatus hernia, Pectus carinatum, Growth delay, Platy... |
OMIM:304150 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ... |
ORPHA:96191 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, High palate, Sparse hair, Spina bifida, Hyperlordo... |
OMIM:234100 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Short stature, Short neck, Cleft... |
OMIM:105650 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Pectus carinatum, Hig... |
OMIM:114290 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Kyphosis, Cleft lip, Cleft palate, Pulmonic stenosis, Camptodactyly, A... |
OMIM:619123 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Dilated cardio... |
ORPHA:261250 |
Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Curly hair, Median cleft lip, Ventricular septal defect, Abnormal d... |
ORPHA:2710 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Dental crowding, Ventricular septal de... |
ORPHA:769 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Inguinal hernia, Ventricular septal defect, Short stature, Polyhyd... |
OMIM:607721 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Villous atrophy, Brittle hair, Ventricular septal defect, Short stature, Polyhydramni... |
OMIM:222470 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Meni... |
OMIM:614424 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Ventricular septal defect, Sparse eyelashes, Abnormality of hair texture, Hypoplasi... |
OMIM:234050 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Alopecia totalis, Pericardial effusion, Intrauterine growth retardatio... |
OMIM:618775 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Ventricular septal defect, Carious... |
OMIM:619229 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Short philtru... |
ORPHA:96121 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Short stature, Rhizomelia, Narrow mouth, Coarctation of aorta, Growth ... |
OMIM:614114 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Kyphoscoliosis, Protruding tongue, Diastema, Kyphosis, Postnatal growt... |
OMIM:301040 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Short stature,... |
OMIM:618454 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Cleft palate |
OMIM:243440 |
Charge Syndrome |
|
Polyhydramnios, Hemivertebrae, Short stature, Highly arched eyebrow, Cleft upper lip, Patent duct... |
ORPHA:138 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, ... |
OMIM:208085 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, ... |
OMIM:606232 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Narrow mouth, Abnormal rib morphology, Cleft palate, Narrow chest, Long ... |
ORPHA:83 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Abnormal heart morphology, Scoliosis, In... |
ORPHA:494344 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Short stature, Spina bi... |
OMIM:274000 |
Craniometadiaphyseal Dysplasia |
|
Natal tooth, Dental crowding, Short stature, Carious teeth, High palate, Scoliosis, Microdontia, ... |
OMIM:269300 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Inguina... |
ORPHA:444072 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, High palate, Median cleft palate, Conotruncal defect |
ORPHA:40366 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short stature, Thoracic hypoplasia, Hamartoma of tongue, Cleft upper lip, Lateral clavicle hook, ... |
OMIM:613091 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Short stature, Cleft palate, High palate, Intrauterine gro... |
OMIM:617164 |
Sotos Syndrome |
|
Atrial septal defect, Ventricular septal defect, Sparse eyebrow, High, narrow palate, Muscular ve... |
OMIM:117550 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Hereditary Acrokeratotic Poikiloderma |
|
Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the denti... |
ORPHA:2907 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Tented upper lip vermilion, Atrial septal defect, Ventri... |
OMIM:613458 |
Ogden Syndrome |
|
Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial septal defect, Deep philtrum, Ly... |
OMIM:300855 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Short neck, Deep philtrum, Cleft palate,... |
ORPHA:251038 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Short neck, Fused cervical vertebrae, Atrial septal def... |
OMIM:609053 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Un... |
OMIM:619103 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Gastritis, Ventricular septal defect, Short... |
ORPHA:84064 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Ventricular septal defect, Short stature, Cleft upper lip, Sparse lower ey... |
OMIM:154400 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Thick eyebrow, Tented upper lip vermilion, Ventricular septal defect, Short nec... |
ORPHA:488632 |
Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Thin ribs, Ascites, Ankyloglossia |
OMIM:602361 |
Aneurysm-Osteoarthritis Syndrome |
|
Pectus carinatum, High palate, Abdominal aortic aneurysm, Bifid uvula, Arterial tortuosity, Paten... |
ORPHA:284984 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Short stature, Ovoid vertebral bodies, Short neck, Carious teeth, ... |
OMIM:601559 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Denta... |
OMIM:600920 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios... |
ORPHA:1199 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Prominent superficial veins, Lipoatrophy, Narrow philtrum, Thin ribs, ... |
OMIM:601812 |
Keutel Syndrome |
|
Alopecia, Pulmonary artery stenosis, Ventricular septal defect, Short stature |
ORPHA:85202 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Dental crowding, Left ventricular noncompaction cardiomyopathy, Kyphoscolio... |
OMIM:300967 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Inguinal hernia, Short stature, Broad clavicles, Abnormality of the dentit... |
OMIM:151050 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Atrial sep... |
OMIM:135900 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Ventricular septal defect, Short stature, Absent eyela... |
ORPHA:166035 |
Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Ventricular septal defect, Short stature, Polyhydramnios,... |
OMIM:600373 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, Low anterior hairline,... |
OMIM:180849 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Death in infancy, Short stature, Rhizomelia, Hypoplastic pulmonary veins,... |
OMIM:610682 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Polyhydramnios, Short neck, Lateral clavicle hook, Lymphedema, Abnormal for... |
ORPHA:3144 |
X Small Rings |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Low poste... |
ORPHA:96201 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Ventricular septal defect, Short stature, Esophageal atresia, Pulmonary artery ste... |
OMIM:301030 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Carious teeth, Kyphosis, Abnormal rib morphology, Abnormal form ... |
ORPHA:2769 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Myocarditis, Disproportionate short stature, Abnormal rib morphology... |
ORPHA:93317 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Flexion contracture, Knee flexion contracture, Short philtrum, Death in childhood, At... |
OMIM:210710 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
Constricting Bands, Congenital |
|
Encephalocele, Omphalocele, Cleft upper lip, Cleft palate, Abnormal rib cage morphology, Scoliosi... |
OMIM:217100 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Pectus excavatum, Kyphosis,... |
ORPHA:464311 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Downturned co... |
OMIM:301044 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Death in infancy, Short s... |
ORPHA:534 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Inguinal hernia, Thick hair, Abnormality of the dentition, Malabsor... |
ORPHA:581 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,... |
OMIM:613795 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Autosomal Dominant Centronuclear Myopathy |
|
Pyloric stenosis, Miscarriage, Polyhydramnios, Thin ribs |
ORPHA:169189 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Proportionate short stature, Patent d... |
ORPHA:488618 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Stomatitis, Broad ribs |
OMIM:612852 |
Yunis-Varon Syndrome |
|
Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Polyhydramnios, High, narrow palate, Hydrops fe... |
ORPHA:3472 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Short stature, Carious teeth, Narrow mouth, Thin vermili... |
ORPHA:96097 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventric... |
ORPHA:79328 |
Myopathy With Extrapyramidal Signs |
|
Growth delay, Tented upper lip vermilion, Ventricular septal defect, Short neck |
OMIM:615673 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Ventricular septal defect, Subcutaneous lipoma, Lipoma, Subvalvular aortic stenosis, At... |
OMIM:613001 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Short neck, Sparse eyebrow, Dental malocclusion, Mitral... |
OMIM:616202 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Orofacial ... |
ORPHA:268249 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Intestinal malrotation, Coronary sinus enlarge... |
OMIM:618280 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Short stature, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequ... |
OMIM:614921 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Short stature, Pectus excavatum, Kyphosis... |
ORPHA:464306 |
Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Pylor... |
OMIM:101200 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Short stature, Complete atrioventricular canal defect, ... |
OMIM:617063 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Sacral dimple, Ventricular septal defect, Palpebral edema, Camptodactyly of fi... |
ORPHA:261337 |
Monosomy 9P |
|
Highly arched eyebrow, Short neck, Abnormality of the dentition, Narrow mouth, Synophrys, Congeni... |
ORPHA:261112 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Deep philtrum, Synophrys, Abnormal form of the verte... |
ORPHA:2162 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, Curly hair, High palate, Vertebral arch anomaly |
ORPHA:85184 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Short stature, Short neck, N... |
ORPHA:124 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Increased overbite |
OMIM:618504 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Camptodactyly of finger, Aplastic clavicle, High, narrow palate, Submucous ... |
ORPHA:2554 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Cleft upper lip, Lateral clavicle hook, Disproportionate short stature, Und... |
OMIM:211350 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Synophrys, Conotruncal defect, Macr... |
OMIM:610253 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Short stature, Esophageal atresia, Deep philtrum, Cleft palate, Atrial... |
OMIM:610536 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Pectus excavatum, Pyloric stenosis, Missing ribs, Abnormal... |
OMIM:147791 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Inguinal hernia, Ventricular septal defect, Polyhydramni... |
ORPHA:459070 |
Pyknoachondrogenesis |
|
Palpebral edema, Short thorax, Poorly ossified vertebrae, Enlarged thorax, Abnormality of mouth s... |
ORPHA:3003 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Inguinal hernia, Kyphosis, Thin ribs, Platyspondyly, Disproportionate short-... |
OMIM:610915 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Median cleft lip, Overriding aorta, Missing ribs, Orofacial cleft, Vertebral segment... |
ORPHA:3186 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ... |
OMIM:100300 |
Donnai-Barrow Syndrome |
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Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
Waardenburg Syndrome, Type 1 |
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Thick eyebrow, White eyelashes, White eyebrow, Spina bifida, Myelomeningocele, Synophrys, Orofaci... |
OMIM:193500 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Ascending aorta hypoplasi... |
ORPHA:141127 |
Neurodevelopmental Disorder With Language Delay And Seizures |
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Growth delay, Ventricular septal defect |
OMIM:619908 |
Okamoto Syndrome |
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Tented upper lip vermilion, Primum atrial septal defect, Downturned corners of mouth, Exaggerated... |
ORPHA:2729 |
Zellweger Syndrome |
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Death in infancy, Ventricular septal defect, Short stature, Malabsorption, Pyloric stenosis, Abno... |
ORPHA:912 |
Mucopolysaccharidosis Type 2, Severe Form |
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Inguinal hernia, Thickened ribs, Abnormal dental morphology, Abnormal heart valve morphology, Abn... |
ORPHA:217085 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Postnatal growth retardation, Pyloric stenosis, Contracture of t... |
ORPHA:83617 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Ventricular septal defect, Protruding tongue, High, narrow palate, Patent ductus arteriosus, Bell... |
OMIM:214100 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Inguinal hernia, Ventricular septal defect, Proportionate short stature, Narrow mouth, Patent duc... |
OMIM:613457 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Broad eyebrow, Lumbar hyperlordosis, Ventricular septal defect, Short stature, Cleft lip, Patent ... |
OMIM:616975 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thor... |
OMIM:618019 |
Trichothiodystrophy |
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Sparse scalp hair, Brittle hair, Ventricular septal defect, Multiple joint contractures, Carious ... |
ORPHA:33364 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Inguinal hernia, Thickened ribs, Abnormal dental morphology, Abnormal heart valve morphology, Abn... |
ORPHA:217093 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Death in infancy, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricula... |
OMIM:613404 |
Duane-Radial Ray Syndrome |
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Anal stenosis, Aganglionic megacolon, Ventricular septal defect, Vascular dilatation, Fused cervi... |
OMIM:607323 |
Diets-Jongmans Syndrome |
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Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Short stature, Polyhydramni... |
OMIM:618846 |
Osteoporosis-Pseudoglioma Syndrome |
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Barrel-shaped chest, Ventricular septal defect, Short stature, Kyphoscoliosis, Kyphosis, Platyspo... |
OMIM:259770 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, J... |
ORPHA:436252 |
Alagille Syndrome 1 |
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Peripheral pulmonary artery stenosis, Ventricular septal defect, Abnormal rib morphology, Hemiver... |
OMIM:118450 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Severe postnatal growth retardation, Ventricular septal defect, Contractures of the large joints |
ORPHA:3078 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Flexion contracture of finger, Ventricular septal defect, Short stature, Camptodactyly of finger,... |
OMIM:602782 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Clef... |
OMIM:309801 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Short stature, Increased intervertebral space, Thick lower lip vermili... |
OMIM:619727 |
Phace Association |
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Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, Re... |
ORPHA:904 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Downturned corners of mouth, Long thorax, Short philtrum, Narrow c... |
OMIM:616268 |
Costello Syndrome |
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Barrel-shaped chest, Curly hair, Ventricular septal defect, Short stature, Polyhydramnios, Short ... |
OMIM:218040 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Patent foramen ovale, Abnormal... |
ORPHA:444077 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
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Postnatal growth retardation, Abnormal thorax morphology, Abnormal form of the vertebral bodies, ... |
ORPHA:73230 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Goldberg-Shprintzen Syndrome |
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Aganglionic megacolon, Ventricular septal defect, Highly arched eyebrow, Short neck, Synophrys, O... |
OMIM:609460 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short r... |
OMIM:250420 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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11 pairs of ribs, Rhizomelia, Short neck, Cupped ribs, Horizontal inferior border of scapula, Myo... |
OMIM:250220 |
Eiken Syndrome |
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Short stature, Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multipl... |
OMIM:600002 |
Ulbright-Hodes Syndrome |
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Short neck, Postnatal growth retardation, Abnormal rib morphology, Ovoid thoracolumbar vertebrae,... |
ORPHA:3404 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Hardikar Syndrome |
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Ventricular septal defect, Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Ce... |
OMIM:301068 |
Ventriculomegaly With Cystic Kidney Disease |
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Polyhydramnios, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Polyhydramnios, Short neck, Hemivertebrae, Anteriorly placed anus, Conica... |
OMIM:261540 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Short nail, Pectus excavatum, Cupped... |
OMIM:607778 |
Fanconi Anemia, Complementation Group N |
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Postnatal growth retardation, Ventricular septal defect, Short neck |
OMIM:610832 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovit... |
ORPHA:89936 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cleft lip, ... |
OMIM:615948 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ... |
ORPHA:3047 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Short stature, Short ribs, Scoliosis |
OMIM:252600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Flexion contracture, Corneal scarring, Growth delay, High palate, Intr... |
OMIM:614653 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Synophrys, Low anterior hairline, Downturned corners... |
ORPHA:199 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coronary artery fistula, Neon... |
OMIM:620024 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Kyphoscoliosis, Supernumera... |
ORPHA:466791 |
Sclerosteosis 1 |
|
Sclerotic scapulae, Broad clavicles, Dental malocclusion, Broad ribs, Tooth malposition, Scleroti... |
OMIM:269500 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Short stature |
OMIM:618325 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Pectus carinatum, Atrial septal defect, Spondylolisthesis, Alopecia, Abnor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Pectus carinatum, Atrial septal defect, Spondylolisthesis, Alopecia, Abnor... |
ORPHA:363958 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Short stature, Sparse eyelashes, Sparse eyebrow, Thick vermilion borde... |
OMIM:250410 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Ventricular septal defect, Palpebral edema, Cleft palate, Death in adolescence,... |
OMIM:614866 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Inguinal hernia, Ventricular septal defect, Cleft soft palate, Abnormal pulmonary ... |
ORPHA:268261 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Premature loss of primary teeth, ... |
ORPHA:667 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal... |
ORPHA:353281 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormality of the gingiva, Anteriorly placed anus, Sho... |
ORPHA:798 |
Feingold Syndrome 1 |
|
Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Esophageal atresi... |
OMIM:164280 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral colum... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral colum... |
ORPHA:353277 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Short stature |
OMIM:612528 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Wide mouth, Growth delay, Frontal upsweep of h... |
OMIM:617798 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Cleft lip, Synophrys, Cleft palate, Umbilical hernia, Thick vermilion border, Ever... |
OMIM:301066 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, High, narrow palate, Flexion contracture, Abnormal rib morphology, Elbow fl... |
ORPHA:95699 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Narr... |
OMIM:264090 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Short stature, Abnormal rib morphology, Irregularly spaced teeth, A... |
ORPHA:249 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pulmonary artery sli... |
OMIM:235730 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Patent ductus arteriosus, Cle... |
ORPHA:163979 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Short stature, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Abnorm... |
ORPHA:363700 |
Degcags Syndrome |
|
Polyhydramnios, Synophrys, Low anterior hairline, Premature graying of hair, High palate, Atrial ... |
OMIM:619488 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Short neck, Postnatal growth retardation, Hypoplasia of ... |
OMIM:269150 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Short stature, Nar... |
OMIM:619268 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... |
ORPHA:26793 |
Kabuki Syndrome 1 |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Abnormality of t... |
OMIM:147920 |
Kindler Epidermolysis Bullosa |
|
Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari... |
ORPHA:2908 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Flexion contracture... |
OMIM:619306 |
Hand-Foot-Genital Syndrome |
|
Sacral dimple, Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Supernumerary nipple, Deep ... |
OMIM:613884 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Edema of the dorsum of feet, Polyhydramnios, Short neck, Congenital d... |
OMIM:601803 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Inguinal hernia, Short neck, Pectus excavatum, Undulate ribs, Knee flexion contracture, Thin verm... |
OMIM:609945 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Short stature, Abnormal pulmonary valve morphology, Patent ductus arterios... |
ORPHA:857 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... |
OMIM:616682 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Ventricular septal defect, Cleft upper lip, Patent duct... |
OMIM:164210 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Severe short stature, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis |
ORPHA:85167 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Premature graying of hair, Atrial se... |
OMIM:194050 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Short stature, Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow ch... |
OMIM:208500 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Complete atrioventricul... |
OMIM:236680 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Short stature, Growth delay, Abnormal cardiac septum morphology, Hypod... |
ORPHA:209905 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Ventricular septal defect, Pectus excavatum, Supernumerary tooth, Pectus carinat... |
OMIM:619525 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Yunis-Varon Syndrome |
|
Anterior concavity of thoracic vertebrae, Polyhydramnios, Hydrops fetalis, Short philtrum, High p... |
OMIM:216340 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Short stature, Flexion contracture, Anterior wedging of T12, Intrauter... |
OMIM:227645 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Aortopulmonary window, Abnormal... |
ORPHA:97214 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Var... |
OMIM:617107 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Atrial septal defect, Hy... |
OMIM:243800 |
Leigh Syndrome |
|
Alopecia, Multiple joint contractures, Ventricular septal defect, Frontal hirsutism, Growth delay... |
ORPHA:506 |
Keutel Syndrome |
|
Ventricular septal defect, Miscarriage, Costal cartilage calcification, Deep philtrum, Pulmonary ... |
OMIM:245150 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Sacral dimple, Aganglionic megacolon, Dental crowding, Intestinal malrotation, ... |
OMIM:270400 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Short neck, Supernumerar... |
ORPHA:434179 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Highly arched eyebrow, Short neck, Pectus excavatum, Pectus carinatum, Macrogloss... |
ORPHA:309282 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, High, narrow palate, Synophrys, Abnormal curvature of the verte... |
OMIM:619475 |
Coccidioidomycosis |
|
Pericarditis, Vasculitis, Atypical scarring of skin, Abnormality of the vertebral column, Pleural... |
ORPHA:228123 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Osteopetrosis With Renal Tubular Acidosis |
|
Short stature, Persistence of primary teeth, Pectus excavatum, Abnormality of the dentition, Thic... |
ORPHA:2785 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve pro... |
ORPHA:500095 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Short stature, High, narrow palate, Short philtrum, Peripheral pulmona... |
OMIM:619575 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Hypoplastic scapulae, Ventricular septal defect, Inguinal hernia, Sparse axillary ... |
OMIM:181450 |
Omodysplasia 1 |
|
Ventricular septal defect, Rhizomelia, Short neck, Pulmonary artery stenosis, Disproportionate sh... |
OMIM:258315 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Short stature, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Ventricular septal defect, Long philtrum, Uterine prolapse, Peripheral pulmonary... |
OMIM:123700 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Pilonidal sinus, Occipital meningocele, Broad clavicles, Congenital pseudoar... |
OMIM:276820 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cleft upper lip, Short neck, Postnatal growth retardat... |
OMIM:268300 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Renal Agenesis |
|
Ventricular septal defect, Anal atresia, Oligohydramnios |
ORPHA:411709 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Pedal edema, Atrial septal defect, Abnormal vertebra... |
ORPHA:821 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Pulmonary edema |
ORPHA:137675 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Absent cupid's bow, Abnormality of the gi... |
ORPHA:513456 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Abnormal rib morphology, Thick eyebrow, Short neck |
ORPHA:488434 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Dental crowding, Kyphoscoliosis, Thin ribs, Platyspondyly, Progressive congenita... |
OMIM:225400 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Multiple rib fractures, Death in infancy, Death in childhood |
OMIM:612301 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Flexion contracture, Pectus carinatum,... |
ORPHA:261552 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Short stature, Deep philtrum,... |
ORPHA:438213 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Pulmonary edema, Ventricular septal defect, Left atrial enlargement,... |
OMIM:619991 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Short stature, Carious teeth, Patent ductus arteriosus, Downturned cor... |
OMIM:619522 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Ventricular septal defect, Abnormal location of the eyebrow, Agenesi... |
ORPHA:141099 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Growth delay, Ventricular septal defect, High palate |
OMIM:619418 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Anal stenosis, Hip contracture, Ventricular septal ... |
OMIM:606170 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Ventricular septal defect, Cleft palate |
ORPHA:1934 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventricular septal defect, Short neck, High palate, Long philtrum, Umbi... |
OMIM:620330 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Recto... |
OMIM:107480 |
Penile Agenesis |
|
Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Atrial septal defect, Anal ... |
ORPHA:49 |