{"orpha":93335,"name":"Postaxial polydactyly type B","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93335/","orphanet_url":"https://www.orpha.net/en/disease/detail/93335","names":{"fr":{"name":"Polydactylie post-axiale type B","definition":"Malformation congénitale rare des membres caractérisée par la duplication du cinquième doigt/orteil, le sixième doigt étant rudimentaire, peu développé et non fonctionnel, souvent constitué d'un surplus de tissu mou recouvrant un pédicule. La malformation peut être unilatérale ou bilatérale."},"de":{"name":"Polydaktylie, postaxiale, Typ B","definition":"Eine seltene angeborene Fehlbildung der Extremitäten, die durch eine Verdoppelung der fünften Gliedmaße der Hand oder des Fußes gekennzeichnet ist, wobei die überzählige Gliedmaße rudimentär, schlecht entwickelt und nicht funktionsfähig ist und häufig aus zusätzlichem Weichteilgewebe an einem Stiel besteht. Die Anomalie kann einseitig oder beidseitig auftreten."},"es":{"name":"Polidactilia postaxial tipo B","definition":"Es una malformación congenita poco frecuente de las extremidades caracterizada por la duplicación del quinto dedo de la mano o del pie, con un sexto dedo rudimentario, poco desarrollado y no funcional, que consiste con frecuencia en tejido blando adicional en un pedículo. La anomalía puede ser uni- o bilateral."},"it":{"name":"Polidattilia postassiale, tipo B","definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dalla duplicazione del quinto dito della mano o del piede, con un sesto dito rudimentale, iposviluppato e non funzionale, spesso costituito da tessuto molle posizionato su un peduncolo. L'anomalia può essere mono- o bilaterale."},"nl":{"name":"Postaxiale polydactylie type B","definition":"Een zeldzame congenitale malformatie van ledemaat, gekarakteriseerd door duplicatie van de vijfde digitus van hand of voet, waarbij de zesde digitus rudimentair, slecht ontwikkeld, en niet-functioneel is, en vaak bestaat uit bijkomend zacht weefsel op een pedikel. De anomalie kan unilateraal of bilateraal zijn."},"pt":{"name":"Polidactilia pós-axial tipo B"},"pl":{"name":"Polidaktylia zaosiowa typu B"},"cs":{"name":"Postaxiální polydaktylie, typ B"},"uk":{"name":"Постаксіальна полідактилія, тип В","definition":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral."},"zh":{"name":"后端多指趾畸形B型"},"tr":{"name":"Eksenel polidaktili tip B"}},"xrefs":[{"source":"OMIM","code":"174200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q69.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB78.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"366939273"},{"source":"MONDO","code":"0019674","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295167,"name":"OBSOLETE: Postaxial polydactyly type B, unilateral","status":"inactive"},{"type":"Referred to","orpha":295169,"name":"OBSOLETE: Postaxial polydactyly type B, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498467,"name":"Non-syndromic postaxial polydactyly","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GLI1","name":"GLI family zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31549748[PMID]","hgnc":"4317","ensembl":"ENSG00000111087","omim":"165220","loci":["12q13.3"]},{"symbol":"GLI3","name":"GLI family zinc finger 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26394607[PMID]_18000979[PMID]","hgnc":"4319","ensembl":"ENSG00000106571","omim":"165240","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":43.5,"area":"Mexico","status":"Validated","source":"31091006[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":43.5,"area":"Mexico","status":"Validated","source":"31091006[PMID]"}],"phenotypes":null}