{"orpha":476119,"name":"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-476119/","orphanet_url":"https://www.orpha.net/en/disease/detail/476119","names":{"fr":{"name":"Syndrome autosomique dominant de polydactylie préaxiale-hypertrichose du haut du dos","definition":"Syndrome d'origine génétique dont la malformation des membres est la manifestation majeure, caractérisé par une polydactylie préaxiale des mains et des pieds et une expression phénotypique variable en combinaison avec une hypertrichose s'étendant de la ligne postérieure des cheveux jusqu'au milieu du dos. Parmi les malformations des membres sont rapportées une triphalangie des pouces, une duplication des pouces, du rayon préaxial et une syndactylie entre les doigts I et II, et un hallux valgus large ou dupliqué et une syndactylie entre les orteils I et II."},"de":{"name":"Autosomal-dominante präaxiale Polydaktylie mit Hypertrichose des oberen Rückens","definition":"Ein genetisch bedingtes Syndrom mit Gliedmaßenfehlbildungen als Hauptmerkmal, gekennzeichnet durch präaxiale Polydaktylie der Hände und Füße mit unterschiedlicher phänotypischer Ausprägung, kombiniert mit Hypertrichose, die sich vom hinteren Haaransatz bis zur Mitte des Rückens erstreckt. Zu den berichteten Fehlbildungen der Extremitäten gehören dreifache Daumen, doppelte Daumen, zusätzliche präaxiale Strahlen und Syndaktylie zwischen den Phalangen I und II an den Händen sowie ein großer oder doppelter Hallux und Syndaktylie zwischen den Zehen I und II an den Füßen."},"es":{"name":"Síndrome de polidactilia preaxial-hipertricosis de la parte superior de la espalda autosómico dominante","definition":"Es un síndrome genético poco frecuente con malformaciones de las extremidades como rasgo principal caracterizado por polidactilia preaxial de manos y pies con expresividad fenotípica variable en combinación con hipertricosis que se extiende desde la línea posterior de implantación del cabello hasta la mitad de la espalda. Las malformaciones de las extremidades descritas incluyen pulgares trifalángicos, pulgares duplicados, rayo preaxial extra y sindactilia entre los dedos 1º y 2º de las manos, y hallux grandes o duplicados y sindactilia entre los dedos 1º y 2º de los pies."},"it":{"name":"Sindrome autosomica dominante polidattilia preassiale-ipertricosi della parte superiore della schiena","definition":"Si tratta di una malattia genetica rara con malformazione degli arti, caratterizzata da polidattilia preassiale delle mani e dei piedi con espressività variabile, associata ad ipertricosi che si estende dall'attaccatura posteriore dei capelli fino al centro della schiena. Le malformazioni degli arti comprendono i pollici trifalangei, la duplicazione dei pollici, un raggio preassiale aggiuntivo, la sindattilia tra il primo e il secondo dito della mano, l'alluce grande o duplicato e la sindattilia tra il primo e il secondo dito del piede."},"nl":{"name":"Autosomaal dominant preaxiale polydactylie - hypertrichose van bovenrug-syndroom","definition":"Een zeldzaam, genetisch syndroom met ledemaatmalformaties als belangrijk kenmerk, gekarakteriseerd door preaxiale polydactylie van handen en voeten met variabele fenotypische expressiviteit, in combinatie met hypertrichose gaande van achterste haarlijn tot halverwege de rug. Gerapporteerde ledemaatmalformaties zijn onder meer trifalangeale duim, duplicatie van duim, preaxiale extra straal, syndactylie tussen vingers I en II, grote of dubbele hallux, en syndactylie tussen tenen I en II."},"pt":{"name":"Síndrome de polidactilia preaxial-hipertricose da parte superior das costas autossómica dominante"},"pl":{"name":"Autosomalny dominujący zespół polidaktylii przedosiowej i hipertrichozy w górnej części pleców"},"cs":{"name":"Autozomálně dominantní syndrom zahrnující preaxiální polydaktylii a hypertrichózu v horní části zad"},"uk":{"name":"Аутосомно-домінантний синдром преаксіальної полідактилії-гіпертрихозу верхньої частини спини","definition":"A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet."},"zh":{"name":"常染色体显性遗传性前轴多指-上背部肥大综合征","definition":"一种以肢体畸形为主要特征的罕见遗传综合征，其特征是手足桡侧多指（趾）症，表型表现不一，同时伴有从后发际延伸至背中部的多毛症。已报道的肢体畸形包括拇指三节指骨、多拇指、指桡侧面外射、I和II号指间的并指畸形，以及脚部的I和II号趾间大的或重复的半月形和并指畸形。"},"tr":{"name":"Otozomal dominant preaksiyal polidaktili-üst sırt hipertrikoz sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018777","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568802","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25782671[PMID]","hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"25782671[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25782671[PMID]"}],"phenotypes":null}