{"orpha":498602,"name":"Sugarman brachydactyly","type":"Morphological anomaly","group":"Disorder","status":"historical","flags":[],"synonyms":["Sugarman-Hager-Kulik syndrome"],"definition":"Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-498602/","orphanet_url":"https://www.orpha.net/en/disease/detail/498602","names":{"fr":{"name":"Brachydactylie de Sugarman","synonyms":["Syndrome de Sugarman-Hager-Kulik"],"definition":"Une malformation génétique, rare et congénitale, affectant les membres. Elle se caractérise par une brachydactylie des doigts de la main, avec un raccourcissement important des phalanges proximales et des articulations interphalangiennes proximales immobiles, et par des gros orteils non articulés, positionnés de manière proximale et dorsale (avec ou sans angulation). Les résultats radiographiques des mains incluent une duplication bilatérale des premiers métacarpes et des cinquièmes doigts biphalangés. Il n'y a pas eu de description ultérieure dans la littérature depuis 1982."},"de":{"name":"Sugarman-Brachydaktylie","synonyms":["Sugarman-Hager-Kulik-Syndrom"]},"es":{"name":"Braquidactilia de Sugarman","synonyms":["Síndrome de Sugarman-Hager-Kulik"],"definition":"Es una malformación congénita de extremidades, genética y poco frecuente, caracterizada por braquidactilia de los dedos de las manos, con acortamiento importante de las falanges proximales y articulaciones interfalángicas proximales inmóviles, además de ausencia de articulación en los dedos gordos de los pies, colocados dorsal y proximalmente (con o sin angulación). Los hallazgos radiográficos de las manos incluyen duplicación bilateral de los 1º metacarpianos y 5º dedos bifalángicos. No se han descrito más casos en la literatura desde 1982."},"it":{"name":"Brachidattilia di Sugarman","definition":"La brachidattilia di Sugarman è una malformazione congenita rara degli arti, di origine genetica, caratterizzata da brachidattilia delle dita delle mani, con marcato accorciamento delle falangi prossimali e immobilità delle articolazioni interfalangee prossimali, e da alluci rigidi ad impianto dorsale e prossimale (con o senza angolazione). Le radiografie delle mani evidenziano la duplicazione bilaterale dei primi metacarpi e la presenza di due falangi sulle quinte dita. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Brachydactylie van Sugarman","synonyms":["Syndroom van Sugarman-Hager-Kulik"],"definition":"Brachydactylie van Sugarman is een zeldzame, genetische, congenitale malformatie van de ledematen die wordt gekarakteriseerd door brachydactylie van de vingers, met aanzienlijke verkorting van proximale falangen en onbeweeglijke proximale interfalangeale gewrichten, alsook door dorsaal en proximaal geplaatste, niet-articulerende grote tenen (met of zonder angulatie). Radiografie van de handen toont onder meer bilateraal dubbele eerste metacarpalen en bifalangeale vijfde vingers. Sinds 1982 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Braquidactilia Sugarman"},"pl":{"name":"Brachydaktylia Sugarmana","synonyms":["Zespól Sugarmana, Hagera i Kulika"],"definition":"*Brachydaktylia Sugarmana jest rzadką, genetycznie uwarunkowaną, wrodzoną wadą kończyny, która charakteryzuje się brachydaktylią (skróceniem) palców, ze znacznym skróceniem bliższych (proksymalnych) paliczków i ograniczeniem ruchomości proksymalnych stawów międzypaliczkowych, a także grzbietowym i proksymalnym położeniem pozbawionych stawów paluchów (z zagięciem kątowym lub bez). Na obrazach radiologicznych dłoni widoczne są obustronnie zdwojone pierwsze kości śródręcza i dwupaliczkowe piąte palce. Od 1982 roku nie pojawiły się w literaturze nowe opisy tego zespołu."},"cs":{"name":"Sugarmanova brachydaktylie","synonyms":["Sugarman-Hager-Kulik syndrome","Sugarman-Hager-Kulik syndrom"]},"uk":{"name":"Брахідактилія Шугермана","synonyms":["Синдром Шугармана-Хагера-Кулика"],"definition":"Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982."},"zh":{"name":"糖人多指畸形","synonyms":["Sugarman-Hager-Kulik综合征"],"definition":"Sugarman短指是一种罕见的遗传性先天性肢体畸形，其特征是手指的短指，主近端指骨短缩和近端指间关节不活动，以及背侧和位于近端、非关节大脚趾（有或无角度）。手部的放射学检查结果包括双侧双第一掌骨和第五指双指骨。自1982年以来，文献中没有进一步的描述。"},"tr":{"name":"Sugarman brakidaktili","synonyms":["Sugarman-Hager-Kulik sendromu"]}},"xrefs":[{"source":"OMIM","code":"272150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010087","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5399870","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5058","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"4469972[PMID]_7083610[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4469972[PMID]_7083610[PMID]"}],"phenotypes":null}