{"orpha":295026,"name":"Congenital pseudoarthrosis of the ulna","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital pseudarthrosis of the ulna"],"definition":"A rare bone development disorder characterized by abnormal bowing of the ulna 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 concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295026/","orphanet_url":"https://www.orpha.net/en/disease/detail/295026","names":{"fr":{"name":"Pseudoarthrose congénitale de l'ulna","synonyms":["Pseudarthrose congénitale de l'ulna","Pseudoarthrose congénitale du cubitus"],"definition":"Anomalie rare du développement osseux caractérisée par une courbure anormale du cubitus 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 la courbure concomitante du radius, les anomalies de l'articulation huméro-ulnaire et une limitation de la pronation ou de la supination de l'avant-bras. La neurofibromatose de type 1 et la dysplasie ostéofibreuse sont fréquemment associées."},"de":{"name":"Pseudarthrose der Ulna, kongenitale","definition":"Eine seltene Störung der Knochenentwicklung, die durch eine anormale Verkrümmung der Elle und einen anschließenden nicht heilenden Bruch mit Bildung eines falschen Gelenks (Pseudarthrose), Instabilität und Abwinkelung an der Pseudarthrosestelle und Verkürzung des Unterarms gekennzeichnet ist. Zu den weiteren Anzeichen und Symptomen gehören eine gleichzeitige Verkrümmung der Speiche, Anomalien des Humeroulnargelenks und eine eingeschränkte Pronation oder Supination des Unterarms. Neurofibromatose Typ 1 und osteofibröse Dysplasie sind häufig assoziiert."},"es":{"name":"Pseudoartrosis congénita del cúbito","definition":"Es un trastorno poco frecuente del desarrollo óseo caracterizado por una incurvación anómala del cúbito y una fractura subsiguiente que no consolida, con formación de una articulación falsa (pseudoartrosis), inestabilidad y angulación en el lugar de la pseudoartrosis y acortamiento del antebrazo. Los signos y síntomas adicionales incluyen una incurvación concomitante del radio, anomalías de la articulación humerocubital y pronación o supinación limitada del antebrazo. Con frecuencia se asocia a neurofibromatosis tipo 1 y displasia osteofibrosa."},"it":{"name":"Pseudoartrosi congenita dell'ulna","definition":"Si tratta di una malattia rara dello sviluppo delle ossa, caratterizzata da un incurvamento anomalo dell'ulna, con conseguenti fratture che non guariscono, e con la formazione di una falsa articolazione (pseudoartrosi), associata ad instabilità e all'angolazione del sito della pseudoartrosi e all'accorciamento dell'avambraccio. Altri segni clinici sono l'incurvamento concomitante del radio, le anomalie dell'articolazione omero-ulnare e la limitazione della pronazione o della supinazione dell'avambraccio. Spesso si associa alla neurofibromatosi tipo 1 e alla displasia osteofibrosa."},"nl":{"name":"Congenitale pseudoartrose van ulna","synonyms":["Congenitale pseudartrose van ulna","Congenitale pseudoartrose van ellepijp"],"definition":"Een zeldzame botontwikkelingsstoornis, gekarakteriseerd door abnormale verkromming van ulna 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 concomitante verkromming van radius, afwijkingen van humero-ulnair gewricht, en beperkte pronatie of supinatie van onderarm. Neurofibromatose type 1 en osteofibreuze dysplasie zijn vaak geassocieerd."},"pt":{"name":"Pseudoartrose congénita do cúbito"},"pl":{"name":"Wrodzony staw rzekomy kości łokciowej","synonyms":["Congenital pseudarthrosis of the ulna"]},"cs":{"name":"Vrozená pseudoartróza ulny","synonyms":["Congenital pseudarthrosis of the ulna"]},"uk":{"name":"Вроджений псевдоартроз ліктьового суглоба","synonyms":["Вроджений псевдоартроз ліктьового суглоба"],"definition":"A rare bone development disorder characterized by abnormal bowing of the ulna 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 concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated."},"zh":{"name":"先天性尺骨假关节","synonyms":["先天性尺骨假关节"],"definition":"一种罕见的骨骼发育障碍，其特征是尺骨异常弯曲、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桡骨弯曲、肱尺关节畸形和前臂旋前、旋后受限。常与神经纤维瘤病1型和骨纤维异常增生有感。"},"tr":{"name":"Doğumsal Ulna psödoartrozu","synonyms":["Ulnanın 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":"0017466","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679937","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}