{"orpha":295024,"name":"Congenital pseudoarthrosis of the radius","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital pseudarthrosis of the radius"],"definition":"A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295024/","orphanet_url":"https://www.orpha.net/en/disease/detail/295024","names":{"fr":{"name":"Pseudoarthrose congénitale du radius","synonyms":["Pseudarthrose congénitale du radius"],"definition":"Anomalie rare du développement osseux, caractérisée par une courbure anormale du radius et une fracture non consolidée avec formation d'une fausse articulation (pseudarthrose), instabilité et angulation au niveau du site de la pseudarthrose, et raccourcissement de l'avant-bras. Les autres signes et symptômes comprennent une déviation radiale de l'articulation du poignet et une limitation de la pronation et de la supination de l'avant-bras. La neurofibromatose de type 1, la dysplasie ostéofibreuse, ainsi que la flexion et la pseudarthrose du cubitus sont fréquemment associées."},"de":{"name":"Pseudarthrose des Radius, kongenitale","definition":"Eine seltene Störung der Knochenentwicklung, die durch eine abnormale Verkrümmung des Radius und einen anschließenden nicht heilenden Bruch mit Bildung eines falschen Gelenks (Pseudarthrose), Instabilität und Abwinkelung an der Pseudarthrosestelle und Verkürzung des Unterarms gekennzeichnet ist. Weitere Anzeichen und Symptome sind eine Radialabweichung im Handgelenk und eine eingeschränkte Pronation und Supination des Unterarms. Neurofibromatose Typ 1, osteofibröse Dysplasie sowie Verkrümmung und Pseudarthrose der Elle sind häufig assoziiert."},"es":{"name":"Pseudoartrosis congénita del radio","definition":"Es un trastorno poco frecuente del desarrollo óseo caracterizado por una incurvación anómala del radio y una fractura subsiguiente que no consolida, con formación de una articulación falsa (pseudoartrosis), inestabilidad y angulación en el sitio de la pseudoartrosis y acortamiento del antebrazo. Los signos y síntomas adicionales incluyen desviación radial en la articulación de la muñeca y pronación y supinación limitadas del antebrazo. Con frecuencia se asocian neurofibromatosis tipo 1, displasia osteofibrosa e incurvación y pseudoartrosis del cúbito."},"it":{"name":"Pseudoartrosi congenita del radio","definition":"Si tratta di una malattia rara dello sviluppo delle ossa, caratterizzata dall'incurvamento anomalo del radio, 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 e all'accorciamento dell'avambraccio. Altri segni clinici sono la deviazione del radio a livello dell'articolazione del polso e la limitazione della pronazione e della supinazione dell'avambraccio. Spesso si associa alla neurofibromatosi tipo 1, alla displasia osteofibrosa, e all'incurvamento e alla pseudoartrosi dell'ulna."},"nl":{"name":"Congenitale pseudoartrose van radius","synonyms":["Congenitale pseudoartrose van spaakbeen","Congenitale pseudartrose van radius"],"definition":"Een zeldzame botontwikkelingsstoornis, gekarakteriseerd door abnormale verkromming van radius en daaropvolgend niet-helende fractuur met vorming van een vals gewricht (pseudoartrose), instabiliteit en angulatie ter hoogte van de pseudoartrose, en lengtedefect van onderarm. Bijkomende verschijnselen en symptomen zijn onder meer radiale deviatie van polsgewricht en beperkte pronatie en supinatie van onderarm. Neurofibromatose type 1, osteofibreuze dysplasie, en verkromming en pseudoartrose van ulna zijn vaak geassocieerd."},"pt":{"name":"Pseudoartrose congénita do rádio"},"pl":{"name":"Wrodzony staw rzekomy kości promieniowej","synonyms":["Congenital pseudarthrosis of the radius"]},"cs":{"name":"Vrozená pseudoartróza radia","synonyms":["Congenital pseudarthrosis of the radius"]},"uk":{"name":"Вроджений псевдоартроз променевої кістки","synonyms":["Вроджений псевдоартроз променевої кістки"],"definition":"A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated."},"zh":{"name":"先天性桡骨假关节","synonyms":["先天性桡骨假关节"],"definition":"一种罕见的骨发育障碍，其特征是桡骨异常弯曲、骨折不愈，形成假关节（假关节），假关节处不稳定和成角，前臂缩短。其他症状和体征包括腕关节桡侧屈曲和前臂旋前、旋后受限。常伴发神经纤维瘤病1型、骨纤维异常增生、弓形尺骨和假关节。"},"tr":{"name":"Doğumsal radius psödoartrozu","synonyms":["Radiusun doğumsal psödoartrozu"]}},"xrefs":[{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB9Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017465","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679936","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}