{"orpha":93334,"name":"Postaxial polydactyly type A","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, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93334/","orphanet_url":"https://www.orpha.net/en/disease/detail/93334","names":{"fr":{"name":"Polydactylie post-axiale type A","definition":"Anomalie congénitale rare des membres caractérisée par la duplication du cinquième doigt/orteil, et la présence d'un doigt/orteil surnuméraire, bien formé et fonctionnel, au niveau de l'articulation métacarpo-phalangienne/métatarso-phalangienne ou carpo-métacarpienne/tarso-métatarsienne. La malformation peut être isolée ou associée à un nombre important d'autres anomalies."},"de":{"name":"Polydaktylie, postaxiale, Typ A","definition":"Eine seltene angeborene Fehlbildung der Extremitäten, die durch eine Verdoppelung der fünften Gliedmaße einer Hand oder eines Fußes mit einem zusätzlichen, gut entwickelten und funktionellen Finger/Zeh am Metakarpophalangeal-/Metatarsophalangealgelenk oder Karpometakarpal-/Tarsometatarsalgelenk gekennzeichnet ist. Die Fehlbildung kann isoliert oder in Verbindung mit einer Vielzahl anderer Anomalien auftreten."},"es":{"name":"Polidactilia postaxial tipo A","definition":"Es una malformación congenita poco frecuente de las extremidades caracterizada por la duplicación del quinto dedo de una mano o de un pie, con un dedo adicional, funcional y bien formado en la articulación metacarpofalángica/metatarsofalángica o en la carpometacarpiana/tarsometatarsiana. La malformación puede presentarse como un hallazgo aislado o asociada a un gran número de otras anomalías."},"it":{"name":"Polidattilia postassiale, tipo A","definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dalla duplicazione del quinto dito della mano o del piede, in presenza di un dito soprannumerario ben formato e funzionale a livello dell'articolazione metacarpo-falangea/metatarso-falangea o carpo-metacarpale/tarso-metatarsale. La malformazione può essere isolata o associarsi ad un'ampia gamma di altre anomalie."},"nl":{"name":"Postaxiale polydactylie type A","definition":"Een zeldzame congenitale malformatie van ledemaat, gekarakteriseerd door duplicatie van vijfde digitus van hand of voet, met een extra, goed gevormde, functionele digitus aan metacarpofalangeaal/metatarsofalangeaal of carpometacarpaal/tarsometatarsaal gewricht. De malformatie kan geïsoleerd voorkomen, of geassocieerd zijn met een groot aantal andere anomalieën."},"pt":{"name":"Polidactilia pós-axial tipo A"},"pl":{"name":"Polidaktylia zaosiowa typu A"},"cs":{"name":"Postaxiální polydaktylie, typ A"},"uk":{"name":"Постаксіальна полідактилія, тип А","definition":"A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies."},"zh":{"name":"后端多指趾畸形A型"},"tr":{"name":"Eksenel polidaktili tip A"}},"xrefs":[{"source":"OMIM","code":"174200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"263450","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602085","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607324","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608562","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615226","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617642","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618219","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618498","qualifier":"BTNT","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":"476330894"},{"source":"MONDO","code":"0019673","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3887487","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295163,"name":"OBSOLETE: Postaxial polydactyly type A, unilateral","status":"inactive"},{"type":"Referred to","orpha":295165,"name":"OBSOLETE: Postaxial polydactyly type A, 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":"CIBAR1","name":"CBY1 interacting BAR domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30395363[PMID]","hgnc":"30452","ensembl":"ENSG00000188343","omim":"617273","loci":["8q22.1"]},{"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]_22428873[PMID]","hgnc":"4319","ensembl":"ENSG00000106571","omim":"165240","loci":["7p14.1"]},{"symbol":"IQCE","name":"IQ motif containing E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26394607[PMID]_28488682[PMID]","hgnc":"29171","ensembl":"ENSG00000106012","omim":"617631","loci":["7p22.3"]},{"symbol":"KIAA0825","name":"KIAA0825","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30982135[PMID]","hgnc":"28532","ensembl":"ENSG00000185261","omim":"617266","loci":["5q15"]},{"symbol":"ZNF141","name":"zinc finger protein 141","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26394607[PMID]_23160277[PMID]","hgnc":"12926","ensembl":"ENSG00000131127","omim":"194648","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.7,"area":"Mexico","status":"Validated","source":"31091006[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.7,"area":"Mexico","status":"Validated","source":"31091006[PMID]"}],"phenotypes":null}