{"orpha":295020,"name":"Congenital pseudoarthrosis of the femur","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital pseudarthrosis of the femur"],"definition":"A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295020/","orphanet_url":"https://www.orpha.net/en/disease/detail/295020","names":{"fr":{"name":"Pseudoarthrose congénitale du fémur","synonyms":["Pseudarthrose congénitale du fémur"],"definition":"Anomalie rare du développement osseux caractérisée par une courbure anormale et une fracture sans consolation du fémur entraînant la formation d'un faux joint (pseudarthrose), qui est déjà présente à la naissance. L'os concerné est raccourci et oblique au niveau du site de la pseudarthrose. L'association avec une dysplasie congénitale de la hanche et une absence de rotule a également été rapportée."},"de":{"name":"Pseudarthrose des Femurs, kongenitale","definition":"Eine seltene Störung der Knochenentwicklung, die durch eine abnorme Verkrümmung und einen anschließenden nicht heilenden Bruch des Oberschenkelknochens gekennzeichnet ist und zur Bildung eines falschen Gelenks (Pseudarthrose) führt, das bereits bei der Geburt vorhanden ist. Der betroffene Knochen ist an der Stelle der Pseudoarthrose verkürzt und angewinkelt. Eine angeborene Hüftdysplasie und das Fehlen der Kniescheibe wurden in Verbindung mit dieser Erkrankung berichtet."},"es":{"name":"Pseudoartrosis congénita del fémur","definition":"Es un trastorno poco frecuente del desarrollo óseo caracterizado por incurvación anómala y posterior fractura del fémur que no consolida, que resulta en la formación de una articulación falsa (pseudoartrosis), y que ya está presente al nacimiento. El hueso afectado se acorta y se angula en el sitio de la pseudoartrosis. Se ha descrito una asociación con la displasia congénita de cadera y la ausencia de rótula."},"it":{"name":"Pseudoartrosi congenita del femore","definition":"Si tratta di una malattia rara dello sviluppo delle ossa, caratterizzata dall'incurvamento anomalo del femore, con conseguenti fratture che non guariscono e la formazione di una falsa articolazione (pseudoartrosi), già presente alla nascita. L'osso interessato è più corto e angolato in corrispondenza della pseudoartrosi. Può associarsi alla displasia dell'anca e all'agenesia della rotula."},"nl":{"name":"Congenitale pseudoartrose van femur","synonyms":["Congenitale pseudartrose van femur","Congenitale pseudoartrose van dijbeen"],"definition":"Een zeldzame botontwikkelingsstoornis, gekarakteriseerd door abnormale verkromming en daaropvolgend niet-helende fractuur van femur resulterend in vorming van een vals gewricht (pseudoartrose), dat reeds aanwezig is bij de geboorte. Ter hoogte van de pseudoartrose is het aangetaste bot verkort en gekromd. Associatie van congenitale dysplasie van heup en afwezigheid van patella werd ook reeds gerapporteerd."},"pt":{"name":"Pseudoartrose congénita do fémur"},"pl":{"name":"Wrodzony staw rzekomy kości udowej","synonyms":["Congenital pseudarthrosis of the femur"]},"cs":{"name":"Vrozená pseudoartróza femuru","synonyms":["Congenital pseudarthrosis of the femur"]},"uk":{"name":"Вроджений псевдоартроз стегнової кістки","synonyms":["Вроджений псевдоартроз стегнової кістки"],"definition":"A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association."},"zh":{"name":"先天性股骨假关节","synonyms":["先天性股骨假关节"],"definition":"一种罕见的骨发育障碍，其特征是股骨异常弯曲、骨折不愈，形成假关节（假关节病），出生时即可存在。受累骨在假性关节处缩短并成角。先天性髋关节发育不良和髌骨缺如也有相关报道。"},"tr":{"name":"Doğumsal femur psödoartrozu","synonyms":["Femurun 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":"0017463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679939","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}