{"orpha":364198,"name":"Bipartite talus","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-364198/","orphanet_url":"https://www.orpha.net/en/disease/detail/364198","names":{"fr":{"name":"Talus bipartite","synonyms":["Astragale bipartite","Talus bipartitus"],"definition":"Le talus bipartite est une maladie génétique osseuse rare, caractérisée par la présence de deux fragments osseux talaires non fusionnés, le fragment postérieur étant situé au niveau du processus talaire postérieur. Les patients peuvent présenter une douleur au pied et/ou à la cheville (induite ou non par l'effort), des entorses répétées de la cheville, une laxité ligamenteuse chronique de la cheville, une diminution de son mouvement (flexion plantaire, éversion et inversion) et un léger gonflement."},"de":{"name":"Bipartite Talus","definition":"Der bipartite Talus ist eine seltene, genetisch bedingte Knochenerkrankung, die durch das Vorhandensein von zwei nicht verschmolzenen Talarfragmenten gekennzeichnet ist, wobei das hintere Fragment auf Höhe des hinteren Talarfortsatzes liegt. Die Patienten können sich mit Fuß- und/oder Knöchelschmerzen (belastungsinduziert oder nicht), wiederholten Knöchelverstauchungen, chronischer Bandlaxität des Knöchels, eingeschränkter Knöchelbewegung (d. h. Plantarflexion, Eversion und Inversion) und leichten Schwellungen vorstellen."},"es":{"name":"Astrágalo bipartito","definition":"Es un trastorno óseo genético poco frecuente caracterizado por la presencia de dos fragmentos no fusionados de hueso astrágalo, con el fragmento posterior localizado al nivel del proceso posterior del astrágalo. Los afectados pueden presentar dolor en el pie y/o tobillo (inducido por ejercicio o no), esguinces repetitivos de tobillo, laxitud crónica del ligamento del tobillo, restricción del movimiento del tobillo (es decir, flexión plantar, eversión e inversión) y leve hinchazón."},"it":{"name":"Talo bipartito","definition":"Il talo bipartito è una malattia scheletrica rara di origine genetica, caratterizzata dalla presenza di due frammenti ossei talari non fusi, con il frammento posteriore localizzato a livello del processo posteriore del talo. I pazienti presentano dolore al piede e/o alla caviglia (indotto o meno dall'esercizio fisico), distorsioni ripetute della caviglia, lassità cronica dei legamenti della caviglia, limitazione dei movimenti della caviglia (ovvero della flessione plantare, dell'eversione e dell'inversione) e lieve gonfiore."},"nl":{"name":"Talus bipartitus","definition":"Een zeldzame, genetische botaandoening, gekarakteriseerd door de aanwezigheid van twee niet-gefuseerde fragmenten van de talus (sprongbeen), waarbij het achterste fragment zich situeert ter hoogte van de achterste processus van de talus. Patiënten presenteren zich mogelijk met pijn aan voet en/of enkel (al dan niet geïnduceerd door fysieke inspanning), repetitieve enkelverstuikingen, chronische laxiteit van enkelbanden, beperkte enkelbewegingen (i.e. plantaire flexie, eversie, en inversie), en milde zwelling."},"pt":{"name":"Tálus bipartido"},"pl":{"name":"Dwudzielna kość skokowa"},"cs":{"name":"Talus bipartitus"},"uk":{"name":"Двостороння таранна кістка","definition":"A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling."},"zh":{"name":"距骨骨碎片未融合","definition":"本病是一种罕见的遗传性骨病，特征是有两个未融合的距骨碎片，后碎片位于距骨后突水平。患者可能会出现足部和/或踝部疼痛(可由运动引起)、反复踝关节扭伤、慢性踝关节韧带松弛、踝关节活动受限(即足底屈曲、外翻和内翻)，以及轻度肿胀。"},"tr":{"name":"Bipartit talus"}},"xrefs":[{"source":"ICD-10","code":"Q66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018228","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706298","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":109011,"name":"Non-syndromic limb malformation","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"24095243[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24095243[PMID]"}],"phenotypes":null}