{"orpha":238578,"name":"Familial clubfoot due to 17q23.1q23.2 microduplication","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hereditary clubfoot due to 17q23.1-q23.2 microduplication"],"definition":"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238578/","orphanet_url":"https://www.orpha.net/en/disease/detail/238578","names":{"fr":{"name":"Pied bot familial dû à une microduplication 17q23.1q23.2","synonyms":["Pied bot héréditaire dû à une microduplication 17q23.1-q23.2"],"definition":"La microduplication 17q23.1q23.2 est une cause récemment décrite du pied bot congénital isolé et familial."},"de":{"name":"Klumpfuß, familiärer isolierter, durch Mikroduplikationssyndrom 17q23.1-q23.2","definition":"Die 17q23.1-q23.2-Mikroduplikation ist eine neubeschriebene Ursache von familiärem isoliertem Klumpfuß."},"es":{"name":"Pie zambo familiar por microduplicación 17q23.1q23.2","synonyms":["Pie zambo hereditario por microduplicación 17q23.1-q23.2"],"definition":"La microduplicación 17q23.1-q23.2 es una causa descrita de pie zambo familiar aislado."},"it":{"name":"Piede torto familiare da microduplicazione 17q23.1-q23.2","synonyms":["Piede torto ereditario da microduplicazione 17q23.1-q23.2"],"definition":"La sindrome da microduplicazione 17q23.1q23.2 è stata descritta di recente come causa di piedi torti isolati familiari."},"nl":{"name":"Familiale klompvoet door 17q23.1q23.2-microduplicatie","synonyms":["Erfelijke klompvoet door 17q23.1-q23.2-microduplicatie"],"definition":"Een oorzaak van familiale geïsoleerde klompvoet."},"pt":{"name":"Pé boto isolado familiar por síndrome de microduplicação do 17q23.1-q23.2","definition":"A microduplicação 17q23.1q23.2 é uma causa recentemente descrita de pé boto isolado familiar."},"pl":{"name":"Rodzinna stopa końsko-szpotawa z powodu mikrodulikacji 17q23.1q23.2","synonyms":["Dziedziczna stopa końsko-szpotawa z powodu mikrodulikacji 17q23.1-q23.2"]},"cs":{"name":"Familiární pes equinovarus způsobený mikroduplikací 17q23.1q23.2","synonyms":["Hereditární pes equinovarus způsobený mikroduplikací 17q23.1q23.2"]},"uk":{"name":"Сімейна клишоногість внаслідок мікродуплікації 17q23.1q23.2","synonyms":["Спадкова клишоногість внаслідок мікродуплікації 17q23.1-q23.2"],"definition":"17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot."},"zh":{"name":"染色体17q23.1q23.2微重复所致家族性畸形足","synonyms":["染色体17q23.1-q23.2微重复所致家族性畸形足"],"definition":"17q23.1-q23.2微重复最新报道为家族性孤立性畸形足的一个病因。"},"tr":{"name":"17q23.1q23.2 mikroduplikasyon nedeniyle ailesel çarpık ayak","synonyms":["17q23.1-q23.2 mikroduplikasyonuna bağlı kalıtsal yumru ayak"]}},"xrefs":[{"source":"OMIM","code":"613618","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.G0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1882328610"},{"source":"MONDO","code":"0013329","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150880","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199315,"name":"Familial clubfoot with or without associated lower limb anomalies","classifications":[147,156,199]},{"orpha":262968,"name":"Partial duplication of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"TBX4","name":"T-box transcription factor 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20598276[PMID]","hgnc":"11603","ensembl":"ENSG00000121075","omim":"601719","loci":["17q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"20598276[PMID]_22678995[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20598276[PMID]_22678995[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null}]}}