{"orpha":295028,"name":"Isolated tibio-fibular synostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital tibiofibular fusion"],"definition":"Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295028/","orphanet_url":"https://www.orpha.net/en/disease/detail/295028","names":{"fr":{"name":"Synostose tibio-fibulaire isolée","synonyms":["Fusion tibio-fibulaire congénitale isolée","Fusion tibio-péronière congénitale isolée","Synostose tibio-péronière congénitale isolée"],"definition":"La synostose tibio-fibulaire est une malformation rare et non syndromique des membres. Elle se caractérise par la fusion distale ou proximale des métaphyses et/ou diaphyses tibiales et fibulaires, et est fréquemment associée à une position distale de l'articulation tibio-fibulaire proximale, à une différence de longueur des jambes, à une courbure du péroné et à un <i>genu valgum</i>."},"de":{"name":"Tibiofibulare Synostose, isolierte","synonyms":["Isolierte angeborene tibiofibulare Fusion"],"definition":"Die Tibiofibulare Synostose ist eine seltene, nicht-syndromale Gliedmaßenfehlbildung, die durch Fusion der proximalen oder distalen Tibia und der fibulären Metaphyse und/oder Diaphyse gekennzeichnet ist, die häufig mit der distalen Positionierung des proximalen Tibiofibulargelenks, einer Diskrepanz der Beinlängen, Verbiegung der Fibula und Valgusdeformität des Knies verbunden ist."},"es":{"name":"Sinostosis tibioperonea aislada","synonyms":["Fusión congénita aislada de tibia-peroné"],"definition":"La sinostosis tibioperonea es una malformación no sindrómica de las extremidades, poco frecuente, caracterizada por la fusión de la metáfisis y/o diáfisis de la tibia y del peroné proximal o distal, por lo general asociada con el posicionamiento distal de la articulación tibioperonea proximal, discrepancia en la longitud de las piernas, arqueamiento del peroné, y deformidad del valgo de la rodilla."},"it":{"name":"Sinostosi tibio-fibulare isolata","synonyms":["Fusione congenita isolata tibio-fibulare"],"definition":"La sinostosi tibio-fibulare è una malformazione rara non sindromica degli arti, caratterizzata dalla fusione delle metafisi e/o delle diafisi prossimali o distali della tibia e del perone, spesso associata al posizionamento distale dell'articolazione tibio-fibulare prossimale, alla asimmetria delle gambe, all'incurvatura del perone e al valgismo del ginocchio."},"nl":{"name":"Geïsoleerde tibiofibulaire synostose","synonyms":["Geïsoleerde congenitale tibiofibulaire fusie"],"definition":"Tibiofibulaire synostose is een zeldzame, niet-syndromale malformatie van de ledematen die gekarakteriseerd wordt door fusie van de proximale of distale tibiale en fibulaire metafyse en/of diafyse, en die frequent geassocieerd is met distale positionering van het proximale tibiofibulaire gewricht, discrepantie in beenlengte, buiging van het kuitbeen, en valgusstand van de knie."},"pt":{"name":"Sinostose tibio-peronial isolada","synonyms":["Fusão tibio-peronial isolada congénita"]},"pl":{"name":"Izolowana synostoza piszczelowo-strzałkowa","synonyms":["Zrost piszczelowo-strzałkowy"]},"cs":{"name":"Tibiofibulární synostóza","synonyms":["Tibiofibulární fúze"]},"uk":{"name":"Ізольований тибіо-фібулярний синостоз","synonyms":["Ізольоване вроджене зрощення великогомілкової кістки"],"definition":"Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee."},"zh":{"name":"胫腓骨融合","synonyms":["胫腓骨融合"],"definition":"胫腓骨性融合是一种罕见的非综合征性肢体畸形，以胫腓骨近端或远端干骺端和/或骨干融合为特征，常与胫腓骨近端关节远端定位、腿长差异、腓骨弯曲和膝外翻畸形有关。"},"tr":{"name":"Tibio-fibular sinostoz","synonyms":["Tibio-fibular füzyon"]}},"xrefs":[{"source":"ICD-10","code":"Q74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB90.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1756900121"},{"source":"MONDO","code":"0017467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925018","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294949,"name":"Non-syndromic joint formation defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}