{"orpha":1338,"name":"Heart defect-tongue hamartoma-polysyndactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ostravik-Lindemann-Solberg syndrome"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1338/","orphanet_url":"https://www.orpha.net/en/disease/detail/1338","names":{"fr":{"name":"Syndrome d'anomalie cardiaque-hamartome de la langue-polysyndactylie","synonyms":["Syndrome d'Orstavik-Lindemann-Solberg"],"definition":"Syndrome rare d'anomalies congénitales multiples d'origine génétique, caractérisé par des malformations cardiaques congénitales (coarctation de l'aorte avec ou sans canal auriculo-ventriculaire et sténose sous-aortique), associées à des hamartomes de la langue, une polydactylie post-axiale des mains et une syndactylie des pieds."},"de":{"name":"Herzfehler-Zungenhamartom-Polysyndaktylie-Syndrom","synonyms":["Ostravik-Lindemann-Solberg-Syndrom"]},"es":{"name":"Síndrome de cardiopatía-hamartomas linguales-polisindactilia","synonyms":["Síndrome de Ostravik-Lindemann-Solberg"],"definition":"Es un síndrome de múltiples anomalías congénitas de origen genético y poco frecuente caracterizado por cardiopatías congénitas (p. ej., coartación de la aorta con o sin canal aurículoventricular y estenosis subaórtica), asociado a hamartomas linguales, polidactilia postaxial de la mano y sindactilia de los dedos de los pies."},"it":{"name":"Sindrome cardiopatia-amartoma della lingua-polisindattilia","synonyms":["Sindrome di Ostravik-Lindemann-Solberg"],"definition":"È una malattia genetica rara da anomalie congenite multiple, caratterizzata da cardiopatie congenite (coartazione dell'aorta con o senza canale atrioventricolare e stenosi subaortica) associate ad amartomi della lingua, polidattilia postassiale delle mani e sindattilia delle dita dei piedi."},"nl":{"name":"Hartdefect - tonghamartoom - polysyndactylie-syndroom","synonyms":["Syndroom van Ostravik-Lindemann-Solberg"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën dat gekarakteriseerd wordt door congenitale hartdefecten (e.g. coarctatie van de aorta met of zonder atrioventriculair kanaal- en subaortastenose), geassocieerd met tonghamartomen, postaxiale polydactylie van de handen en syndactylie van de tenen."},"pt":{"name":"Síndrome de cardiopatia-hamartoma da língua-polissindactilia","synonyms":["Síndrome Ostravik-Lindemann-Solberg"]},"pl":{"name":"Zespół wady serca, hamartomy języka i polisyndaktylii","synonyms":["Zespół Ostravika, Lindemanna i Solberga"]},"cs":{"name":"Syndrom zahrnující srdeční defekt, hamartom jazyka a polysyndaktylii","synonyms":["Orstavikové-Lindemannův-Solbergův syndrom","Orstavik-Lindemann-Solbergův syndrom"]},"uk":{"name":"Синдром вади серця-гамартоми язика-полісиндактилії","synonyms":["Синдром Остравіка-Ліндемана-Сольберга"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly."},"zh":{"name":"心脏缺损-舌错构瘤-多指并指综合征","synonyms":["Ostravik-Lindemann-Solberg综合征"]},"tr":{"name":"Kalp defekti-dil hamartom-polisindaktili sendrom","synonyms":["Ostravik-Lindemann-Solberg sendromu"]}},"xrefs":[{"source":"OMIM","code":"217085","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009008","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931046","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4166","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[{"symbol":"WDPCP","name":"WD repeat containing planar cell polarity effector","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25427950[PMID]","hgnc":"28027","ensembl":"ENSG00000143951","omim":"613580","loci":["2p15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25427950[PMID]_1516223[PMID]_8733055[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25427950[PMID]_1516223[PMID]_8733055[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011802","label":"Hamartoma of tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001682","label":"Subvalvular aortic stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001233","label":"2-3 finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100835","label":"Benign neoplasm of the central nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null}]}}