{"orpha":93338,"name":"Polysyndactyly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PPD4","Preaxial polydactyly type 4"],"definition":"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93338/","orphanet_url":"https://www.orpha.net/en/disease/detail/93338","names":{"fr":{"name":"Polysyndactylie","synonyms":["PPD4","Polydactylie préaxiale type 4"],"definition":"La polysyndactylie ou PPD4 est une forme de polydactylie préaxiale des doigts, un syndrome malformatif des membres. Elle se caractérise par la présence d'un pouce montrant le degré le plus léger de duplication, d'aspect large, bifide ou présentant une phalange distale déviée sur le plan radial. Une syndactylie des doigts 3-4 est parfois présente, à des degrés divers."},"de":{"name":"Polysyndaktylie","synonyms":["PPD4","Polydaktylie, präaxiale, Typ 4"]},"es":{"name":"Polisindactilia","synonyms":["PPD4","Polidactilia preaxial tipo 4"],"definition":"La polisindactilia o PPD4 es una forma de polidactilia preaxial de los dedos, un síndrome de malformación de las extremidades, caracterizado por la presencia de un pulgar que muestra el grado más leve de duplicación, siendo ancho, bífido o con la falange distal desviada radialmente. Ocasionalmente se presenta sindactilia de varios grados de los dedos tercero y cuarto de la mano."},"it":{"name":"Polisindattilia","synonyms":["PPD4","Polidattilia preassiale, tipo 4"]},"nl":{"name":"Polysyndactylie","synonyms":["PPD4","Preaxiale polydactylie type 4"],"definition":"Polysyndactylie of PPD4 is een vorm van pre-axiale polydactylie van de vingers (zie deze term), een ledemaatmalformatiesyndroom dat gekenmerkt wordt door de aanwezigheid van een duim met de mildste gradatie van duplicatie, namelijk breed, gespleten of met een radiaal afgeweken distale falanx. Syndactylie van verschillende gradaties van de derde en vierde vingers is occasioneel aanwezig."},"pt":{"name":"Polissindactilia","synonyms":["PPD4","Polidactilia pré-axial tipo 4"]},"pl":{"name":"Polisyndaktylia","synonyms":["Polidaktylia przedosiowa typu 4","PPD4"]},"cs":{"name":"Polysyndaktylie","synonyms":["PPD4","Preaxiální polydaktylie, typ 4"]},"uk":{"name":"Полісиндактилія","synonyms":["PPD4","Преаксіальна полідактилія 4 типу"],"definition":"Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present."},"zh":{"name":"多指(趾)并指(趾)畸形","synonyms":["轴前多指症4型"],"definition":"多指并指畸形（PPD4）是轴前多指畸形（见该词条）的一种类型，是一种肢体畸形综合征，其特征是拇指显示最轻微程度的重复畸形、宽、分叉或远端指骨向桡侧偏斜。偶有第三、四指不同程度的并指畸形。"},"tr":{"name":"Polisindaktili","synonyms":["PPD4","Preaksiyel polidaktili tip 4"]}},"xrefs":[{"source":"OMIM","code":"174700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB78.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"973656080"},{"source":"MONDO","code":"8272","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265553","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063143","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295159,"name":"OBSOLETE: Polysyndactyly, unilateral","status":"inactive"},{"type":"Referred to","orpha":295161,"name":"OBSOLETE: Polysyndactyly, 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":"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]","hgnc":"4319","ensembl":"ENSG00000106571","omim":"165240","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}