{"orpha":93336,"name":"Polydactyly of a triphalangeal thumb","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PPD2","Preaxial polydactyly type 2"],"definition":"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93336/","orphanet_url":"https://www.orpha.net/en/disease/detail/93336","names":{"fr":{"name":"Polydactylie d'un pouce triphalangé","synonyms":["PPD2","Polydactylie préaxiale type 2"],"definition":"La polydactylie d'un pouce triphalangé ou PPD2 est une forme de polydactylie préaxiale des doigts, un syndrome malformatif des membres. Elle se caractérise par la présence d'un pouce triphalangé habituellement opposable, avec ou sans duplication additionnelle d'un ou plusieurs éléments squelettiques du pouce. L'apparence du pouce peut différer grandement au niveau de la forme (cunéiforme à rectangulaire) ou il peut être dévié sur le plan radio-ulnaire (clinodactylie). La PPD2 est aussi associée à des syndromes systémiques incluant le syndrome de Holt-Oram et l'anémie de Fanconi."},"de":{"name":"Polydaktylie des triphalangealen Daumens","synonyms":["PPD2","Polydaktylie, präaxiale, Typ 2"]},"es":{"name":"Polidactilia del pulgar trifalángico","synonyms":["PPD2","Polidactilia preaxial tipo 2"],"definition":"La polidactilia de un pulgar trifalángico o PPD2 es una forma de polidactilia preaxial de los dedos de la mano, un síndrome de malformación de las extremidades caracterizado por la presencia de un pulgar trifalángico generalmente oponible con o sin duplicación adicional de uno o más componentes esqueléticos del pulgar. El aspecto del pulgar puede diferir mucho (en forma de cuña a rectangular) o puede estar desviado en el plano radiocubital (clinodactilia). PPD2 también se asocia con síndromes sistémicos, incluyendo el síndrome de Holt-Oram y la anemia de Fanconi."},"it":{"name":"Polidattilia del pollice trifalangeo","synonyms":["PPD2","Polidattilia preassiale, tipo 2"]},"nl":{"name":"Polydactylie van trifalangeale duim","synonyms":["PPD2","Preaxiale polydactylie type 2"],"definition":"Polydactylie van een trifalangeale duim of PPD2 is een vorm van pre-axiale polydactylie van de vingers (zie deze term), een ledemaatmalformatiesyndroom dat gekenmerkt wordt door de aanwezigheid van een gewoonlijk opponeerbare trifalangeale duim met of zonder bijkomende duplicatie van een of meerdere skeletale componenten van de duim. Het uiterlijk van de duim kan sterk verschillen van vorm (wigvormig tot rechthoekig) of kan afgeweken zijn in het radio-ulnaire vlak (clinodactylie). PPD2 is ook geassocieerd met systemische syndromen, inclusief het Holt-Oramsyndroom en Fanconi-anemie (zie deze termen)."},"pt":{"name":"Polidactilia de um polegar trifalângico","synonyms":["PPD2","Polidactilia pré-axial tipo 2"]},"pl":{"name":"Polidaktylia trójpaliczkowego kciuka","synonyms":["Polidaktylia przedosiowa typu 2","PPD2"]},"cs":{"name":"Polydaktylie trifalangeálního palce ruky","synonyms":["PPD2","Preaxiální polydaktylie, typ 2"]},"uk":{"name":"Полідактилія трифалангового великого пальця","synonyms":["PPD2","Преаксіальна полідактилія 2 типу"],"definition":"Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms)."},"zh":{"name":"三节指节拇指并多指","synonyms":["轴前多指症2型"],"definition":"拇指三指节多指畸形（PPD2）是轴前多指畸形的一种类型，是一种肢体畸形综合征，其特征是存在一个通常可对掌的三指节拇指，伴或不伴拇指一个或多个骨骼成分的重复畸形。拇指外形在形状上可以有很大的不同（楔形到矩形），也可以在尺桡平面上偏离（指侧弯畸形）。PPD2还与全身综合征有关，包括心-肢体综合征和范科尼贫血（见这些词条）。"},"tr":{"name":"Trifalanjiyal başparmak polidaktilisi","synonyms":["PPD2","Preaksiyel polidaktili tip 2"]}},"xrefs":[{"source":"OMIM","code":"174500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"728781925"},{"source":"MONDO","code":"0008270","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868114","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5289","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295148,"name":"OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral","status":"inactive"},{"type":"Referred to","orpha":295150,"name":"OBSOLETE: Polydactyly of a triphalangeal 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":"LMBR1","name":"limb development membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26394607[PMID]","hgnc":"13243","ensembl":"ENSG00000105983","omim":"605522","loci":["7q36.3"]},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26394607[PMID]","hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}