{"orpha":50809,"name":"Talo-patello-scaphoid osteolysis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Singh-Williams-McAlister syndrome"],"definition":"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50809/","orphanet_url":"https://www.orpha.net/en/disease/detail/50809","names":{"fr":{"name":"Ostéolyse talo-patello-scaphoïde","synonyms":["Syndrome de Singh-Williams-McAlister"],"definition":"Une forme extrêmement rare d'ostéolyse primaire décrite chez deux soeurs à ce jour, et caractérisée par une ostéolyse bilatérale des talus, scaphoïdes et rotules (associée par un gonflement et une douleur péri-articulaires), et des quatrièmes métacarpes courts (brachydactylie type E), en l'absence de maladie rénale. Un mode de transmission autosomique récessive a été suggéré."},"de":{"name":"Syndrom der Osteolyse von Talus, Patella und Skaphoid","synonyms":["Singh-Williams-McAlister-Syndrom","Syndrom der Osteolyse von Sprungbein, Kniescheibe und Kahnbein"],"definition":"Talo-patello-scaphoide Osteolyse ist eine äußerst seltene Form der primären Osteolyse (s.dort), die bisher bei 2 Schwestern beschrieben wurde. Die Patienten haben eine spezifische bilaterale Osteolyse von Talus, Patella und Scaphoid mit periartikulären Schwellungen und Schmerzen. Dazu kommen ein kurzes Metacarpale IV (Brachydaktylie Typ E; s.dort) und chronische Synovitis. Wahrscheinlich wird die Krankheit autosomal-rezessiv vererbt."},"es":{"name":"Osteólisis de talón-rótula-escafoides","synonyms":["Síndrome de Singh-Williams-McAlister"],"definition":"El síndrome de osteólisis del talón, rótula y escafoides es una forma de osteólisis primaria extremadamente rara (consulte este término), descrito en dos hermanas hasta la fecha. Se caracteriza por osteólisis bilateral del talón, del escafoides y de la rótula (acompañado de inflamación periarticular y dolor) y los cuartos metacarpianos son cortos (braquidactilia tipo E; consulte este término), en ausencia de enfermedad renal. Se ha sugerido una herencia autosómica recesiva."},"it":{"name":"Osteolisi talo-rotulo-scafoide","synonyms":["Sindrome di Singh-Williams-McAlister"],"definition":"L'osteolisi astragalo-rotula-scafoide è una forma molto rara di osteolisi primitiva (si veda questo termine), descritta in due sorelle che presentavano osteolisi bilaterale dell'astragalo, dello scafoide e della rotula (associata ad un gonfiore periarticolare e al dolore) ed un accorciamento del quarto metacarpo (brachidattilia tipo E; si veda questo termine), in assenza di patologia renale. E' stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Talo-patello-scafoïdosteolyse","synonyms":["Syndroom van Singh-Williams-McAlister"],"definition":"Talo-patello-scafoïdosteolyse is een uiterst zeldzame vorm van primaire osteolyse (zie deze term) die tot op heden in twee zussen werd beschreven en gekenmerkt wordt door bilaterale osteolyse van de tali, scafoïden en patellae (vergezeld van periarticulaire zwelling en pijn) en korte vierde metacarpalen (brachydactylie type E; zie deze term), in de afwezigheid van een nierziekte. Er werd een autosomaal recessieve overerving gesuggereerd."},"pt":{"name":"Síndrome de osteólise escafoido-calâneo-rotuliana","synonyms":["Síndrome Singh-Williams-McAlister"]},"pl":{"name":"Osteoliza skokowo-rzepkowo-łódeczkowata","synonyms":["Zespół Singh, Williamsa i McAlistera"],"definition":"Osteoliza skokowo-rzepkowo-łódeczkowata jest niezwykle rzadką formą pierwotnej osteolizy, opisaną do tej pory u dwóch sióstr, cechującą się obustronną osteolizą kości skokowej, kości łódeczkowatej i rzepek (którym towarzyszy okołostawowy obrzęk i ból) oraz skrócenie czwartych kości śródręcza (brachydaktylia typu E; zob. to hasło), nie związane z chorobą nerek. Sugeruje się dziedziczenie autosomalne recesywne.inf brsup"},"cs":{"name":"Talopatelloskafoidální osteolýza","synonyms":["Singhův-Williamsové-McAlisterův syndrom","Singh-Williams-McAlisterův syndrom"]},"uk":{"name":"Тало-пателло-скафоїдний остеоліз","synonyms":["Синдром Сінгха-Вільямса-МакАлістера"],"definition":"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested."},"zh":{"name":"距骨-髌骨-舟骨骨质溶解症","synonyms":["Singh-Williams-McAlister综合症"]},"tr":{"name":"Talo-patello-skafoid osteoliz","synonyms":["Singh-Williams-McAlister sendromu"]}},"xrefs":[{"source":"OMIM","code":"609655","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1276091756"},{"source":"MONDO","code":"0012330","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509954","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10061","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"12910489[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12910489[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12910489[PMID]","terms":[{"hpo":"HP:0003037","label":"Enlarged joints","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006378","label":"Osteolysis of patellae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006202","label":"Osteolysis of scaphoids","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008095","label":"Osteolysis of talus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Very frequent (99-80%)","criteria":null}]}}