{"orpha":708019,"name":"Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CHDE","Congenital heart defects and ectodermal dysplasia","TEBC syndrome","Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708019/","orphanet_url":"https://www.orpha.net/en/disease/detail/708019","names":{"fr":{"name":"Syndrome de malformation cardiaque congénitale-dysplasie ectodermique-brachydactylie-télangiectasie","synonyms":["CHDE","Malformation cardiaque congénitale-dysplasie ectodermique","Syndrome TEBC","Syndrome de télangiectasie-dysplasie ectodermique-brachydactylie-anomalie cardiaque"]},"de":{"name":"Kongenitaler Herzfehler-Ektodermale Dysplasie-Brachydaktylie-Telangiektasie-Syndrom","synonyms":["Angeborene Herzfehler und ektodermale Dysplasie","CHDE","TEBC-Syndrom","Telangiektasie-ektodermale Dysplasie-Brachydaktylie-Herzanomalie-Syndrom"]},"es":{"name":"Síndrome de defectos cardíacos congénitos-displasia ectodérmica-braquidactilia-telangiectasia","synonyms":["CHDE","Defectos cardíacos congénitos y displasia ectodérmica","Síndrome TEBC","Síndrome de telangiectasia-displasia ectodérmica-braquidactilia-anomalía cardíaca"]},"it":{"name":"Sindrome cardiopatia congenita-displasia ectodermica-brachidattilia-telangectasia","synonyms":["CHDE","Cardiopatia congenita e displasia ectodermica","Sindrome TEBC","Sindrome telangectasia-displasia ectodermica-brachidattilia-cardiopatia"]},"nl":{"name":"Congenitaal hartdefect - ectodermale dysplasie - brachydactylie - teleangiëctasie-syndroom","synonyms":["CHDE","Congenitale hartdefecten en ectodermale dysplasie","TEBC-syndroom","Teleangiëctasie - ectodermale dysplasie - brachydactylie - hartanomalie-syndroom"]},"pt":{"name":"Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome"},"pl":{"name":"Zespół z wrodzoną wada serca, dysplazją ektodermalną, brachydaktylią i teleangiektazją","synonyms":["CHDE","Congenital heart defects and ectodermal dysplasia","TEBC syndrome","Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome"]},"cs":{"name":"Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome","synonyms":["CHDE","Congenital heart defects and ectodermal dysplasia","TEBC syndrome","Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome"]}},"xrefs":[{"source":"OMIM","code":"617364","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"PRKD1","name":"protein kinase D1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27479907[PMID]","hgnc":"9407","ensembl":"ENSG00000184304","omim":"605435","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27479907[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27479907[PMID]_ORPHANET"}],"phenotypes":null}