{"orpha":93339,"name":"Polydactyly of a biphalangeal thumb and/or hallux","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PPD1","Preaxial polydactyly type 1"],"definition":"A rare non-syndromic limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93339/","orphanet_url":"https://www.orpha.net/en/disease/detail/93339","names":{"fr":{"name":"Polydactylie d'un pouce et/ou d'un hallux biphalangé","synonyms":["PPD1","Polydactylie préaxiale type 1"],"definition":"La polydactylie d'un pouce biphalangé ou PPD1 est la forme la plus fréquente de polydactylie préaxiale des doigts, un syndrome malformatif des membres caractérisé par la duplication d'un ou plusieurs éléments squelettiques d'un pouce biphalangé. Les mains sont affectées de manière préférentielle (atteinte bilatérale), et la main droite est plus fréquemment atteinte que la gauche."},"de":{"name":"Polydaktylie eines biphalangealen Daumens und/oder Hallux","synonyms":["PPD1","Polydaktylie, postaxiale, 1"]},"es":{"name":"Polidactilia de pulgar bifalángico y/o hallux","synonyms":["PPD1","Polidactilia preaxial tipo 1"],"definition":"Es una malformación poco frecuente no sindrómica de las extremidades caracterizada por la duplicación de uno o más componentes esqueléticos de un pulgar bifalángico y/o hallux. Afecta preferentemente a las manos (de forma bilateral), y con mayor frecuencia a la mano derecha que a la izquierda. La duplicación del hallux puede presentarse concomitantemente o independientemente de la polidactilia del pulgar y es predominantemente unilateral derecha."},"it":{"name":"Polidattilia del pollice e/o dell’alluce bifalangeo","synonyms":["PPD1","Polidattilia preassiale, tipo 1"]},"nl":{"name":"Polydactylie van bifalangeale duim en/of hallux","synonyms":["PPD1","Preaxiale polydactylie type 1"],"definition":"Polydactylie van een bifalangeale duim of PPD1 is de meest voorkomende vorm van pre-axiale polydactylie van de vingers (zie deze term), een ledemaatmalformatiesyndroom dat gekenmerkt wordt door de duplicatie van een of meerdere skeletale componenten van een bifalangeale duim. Voornamelijk de handen zijn getroffen (bilateraal), en de rechterhand is vaker betrokken dan de linkerhand."},"pt":{"name":"Polidactilia de um polegar bifalângico e/ou hallux","synonyms":["PPD1","Polidactilia pré-axial tipo 1"]},"pl":{"name":"Polidaktylia dwupaliczkowgo kciuka","synonyms":["Polidaktylia przedosiowa typu 1","PPD1","Polidaktylia dwupaliczkowego kciuka i/lub palucha"]},"cs":{"name":"Polydaktylie dvoučlánkového palce","synonyms":["PPD1","Preaxiální polydaktylie, typ 1"]},"uk":{"name":"Полідактилія двофалангового великого пальця та/або плоскостопість","synonyms":["PPD1","Преаксіальна полідактилія типу 1"],"definition":"A rare non-syndromic limb malformation characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Hallux duplication may present concomitantly to, or independently of thumb polydactyly and is predominantly unilateral right."},"zh":{"name":"双指拇指畸形","synonyms":["轴前多指症1型"],"definition":"双指节拇指多指（趾）畸形（PPD1）是轴前多（趾）畸形最常见的一种类型，是一种肢体畸形综合征，其特征是双指节拇指（趾）的一个或多个骨骼成分重复。手优先受累（双侧），右手受累比左手更常见。"},"tr":{"name":"Bifalanjiyal başparmak polidaktilisi","synonyms":["PPD1","Preaksiyel polidaktili tip 1"]}},"xrefs":[{"source":"OMIM","code":"174400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q69.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB78.0","qualifier":"NTBT","icd_relation":"specific","validated":true,"icd11_uri":"555718563"},{"source":"MeSH","code":"C536332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1395852","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295144,"name":"OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral","status":"inactive"},{"type":"Referred to","orpha":295146,"name":"OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498464,"name":"Non-syndromic preaxial 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":"30620395[PMID]","hgnc":"4317","ensembl":"ENSG00000111087","omim":"165220","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}