{"orpha":295022,"name":"Congenital pseudoarthrosis of the fibula","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital pseudarthrosis of the fibula"],"definition":"A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295022/","orphanet_url":"https://www.orpha.net/en/disease/detail/295022","names":{"fr":{"name":"Pseudoarthrose congénitale de la fibula","synonyms":["Pseudarthrose congénitale de la fibula","Pseudoarthrose congénitale du péroné"],"definition":"Anomalie rare du développement osseux caractérisée par une courbure anormale de la fibula, avec fractures ultérieures sans consolidation et formation d'une fausse articulation (pseudoarthrose), accompagnée d'une instabilité et d'une angulation à l'endroit de la pseudoarthrose. Généralement unilatérale, l'anomalie est souvent associée à une pseudoarthrose du tibia et à une neurofibromatose type 1."},"de":{"name":"Pseudarthrose der Fibula, kongenitale","definition":"Eine seltene Störung der Knochenentwicklung, die durch eine abnorme Verkrümmung des Wadenbeins mit anschließenden nicht heilenden Brüchen und Bildung eines falschen Gelenks (Pseudarthrose) sowie Instabilität und Abwinkelung an der Pseudarthrosestelle gekennzeichnet ist. Der Defekt ist in der Regel einseitig und tritt häufig in Verbindung mit einer Pseudarthrose der Tibia und einer Neurofibromatose des Typs 1 auf."},"es":{"name":"Pseudoartrosis congénita del peroné","definition":"Es un trastorno poco frecuente del desarrollo óseo caracterizado por una incurvación anómala del peroné con posteriores fracturas que no consolidan y la formación de una falsa articulación (pseudoartrosis), así como inestabilidad y angulación en la zona de pseudoartrosis. El defecto es típicamente unilateral y a menudo se asocia a pseudoartrosis de la tibia y a la neurofibromatosis tipo 1."},"it":{"name":"Pseudoartrosi congenita del perone","definition":"Si tratta di una malattia rara dello sviluppo delle ossa, caratterizzata da un incurvamento anomalo del perone, con conseguenti fratture che non guariscono e con la formazione di una falsa articolazione (pseudoartrosi), associata all'instabilità e all'angolazione del sito della pseudoartrosi. Di solito il difetto è monolaterale, e spesso si associa alla pseudoartrosi della tibia e alla neurofibromatosi tipo 1."},"nl":{"name":"Congenitale pseudoartrose van fibula","synonyms":["Congenitale pseudartrose van fibula","Congenitale pseudoartrose van kuitbeen"],"definition":"Een zeldzame aandoening van botontwikkeling, gekarakteriseerd door abnormale verkromming van kuitbeen, met daaropvolgend niet-helende fracturen en vorming van een vals gewricht (pseudoartrose), en instabiliteit en angulatie ter hoogte van de pseudoartrose. Het defect is doorgaans unilateraal en vaak geassocieerd met pseudoartrose van scheenbeen en neurofibromatose type 1."},"pt":{"name":"Pseudoartrose congénita da fíbula"},"pl":{"name":"Wrodzony staw rzekomy kości strzałkowej","synonyms":["Congenital pseudarthrosis of the fibula"]},"cs":{"name":"Vrozená pseudoartróza fibuly","synonyms":["Congenital pseudarthrosis of the fibula"]},"uk":{"name":"Вроджений псевдоартроз малогомілкової кістки","synonyms":["Вроджений псевдоартроз малогомілкової кістки"],"definition":"A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1."},"zh":{"name":"先天性腓骨假关节","synonyms":["先天性腓骨假关节"],"definition":"一种罕见的骨发育障碍，其特征是腓骨异常弯曲、骨折不愈，形成假关节（假关节），假关节处不稳定和成角。此缺损常为单侧性，伴胫骨假关节病和神经纤维瘤病1型。"},"tr":{"name":"Doğumsal fibula psödoartrozu","synonyms":["Fibulanın doğumsal psödoartrozu"]}},"xrefs":[{"source":"ICD-10","code":"Q74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB9Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017464","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679935","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":157808,"name":"Isolated pseudoarthrosis of the limbs","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}