{"orpha":295032,"name":"Isolated congenital radial head dislocation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital elbow dislocation"],"definition":"A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295032/","orphanet_url":"https://www.orpha.net/en/disease/detail/295032","names":{"fr":{"name":"Luxation congénitale isolée de la tête radiale","synonyms":["Luxation congénitale isolée du coude"],"definition":"Anomalie congénitale rare des membres caractérisée par une luxation principalement postérieure et, bien que moins fréquemment, antérieure ou latérale de la tête radiale par rapport à sa position habituelle dans l'articulation huméro-radiale. Bilatérale dans la majorité des cas, elle peut être isolée ou associée à d'autres malformations congénitales, ou bien être une des manifestations d'un certain nombre de syndromes. L'anomalie peut initialement ne provoquer que de légers symptômes, tels que des douleurs et une flexion limitée du coude. Elle peut toutefois finir par entraîner une instabilité articulaire, des modifications dysplasiques de la tête radiale, ainsi que de l'arthrite."},"de":{"name":"Radiuskopfdislokation, kongenitale, isolierte","synonyms":["Ellenbogendislokation, kongenitale, isolierte","Radiuskopfdislokation, kongenitale"],"definition":"Eine seltene angeborene Fehlbildung der Extremitäten, die durch eine posteriore, seltener anteriore oder laterale Verlagerung des Radiuskopfes aus seiner Position im Humeroradialgelenk gekennzeichnet ist. Sie ist in den meisten Fällen bilateral und kann als isoliertes Merkmal oder in Verbindung mit anderen angeborenen Fehlbildungen oder im Kontext einer Reihe von weiteren Syndromen auftreten. Der Defekt kann anfänglich nur leichte Symptome wie Schmerzen und eine Einschränkung der Ellenbogenbeugung verursachen, kann aber schließlich zu einer Instabilität des Gelenks, dysplastischen Veränderungen des Radiuskopfes und Arthritis führen."},"es":{"name":"Luxación congénita aislada de la cabeza radial","synonyms":["Luxación congénita aislada del codo"],"definition":"Es una malformación congénita de las extremidades poco frecuente, caracterizada por una luxación de la cabeza radial, generalmente posterior, o con menor frecuencia, anterior o lateral, desde su posición en la articulación humerorradial. En la mayoría de los casos es bilateral y puede presentarse como un hallazgo aislado o asociado a otras malformaciones congénitas y formando parte de varios síndromes. En un inicio, el defecto puede ocasionar síntomas leves únicamente, tales como dolor y limitación de la flexión del codo, aunque posteriormente puede progresar a inestabilidad articular, cambios displásicos de la cabeza radial y artritis."},"it":{"name":"Dislocazione congenita isolata della testa del radio","synonyms":["Dislocazione congenita della testa del radio"],"definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dalla dislocazione per lo più posteriore, e più raramente anteriore o laterale, della testa del radio dalla sua posizione all'interno dell'articolazione omero-radiale. Nella maggior parte dei pazienti è bilaterale; può essere isolata o associarsi ad altre malformazioni congenite, oppure rientrare nel quadro clinico di alcune sindromi. Inizialmente il difetto può associarsi solo sintomi lievi (dolore e limitazione della flessione del gomito), ma può anche causare l'instabilità dell'articolazione, alterazioni displastiche della testa del radio e artrite."},"nl":{"name":"Geïsoleerde congenitale luxatie van radiuskop","synonyms":["Geïsoleerde congenitale elleboogluxatie"],"definition":"Een zeldzame, congenitale ledemaatmalformatie, gekarakteriseerd door voornamelijk posterieure, en minder frequent ook anterieure of laterale, dislocatie van de radiuskop van zijn positie in het humeroradiale gewricht. Het is bilateraal in de meerderheid van de gevallen, en kan voorkomen als een geïsoleerd kenmerk of geassocieerd met andere congenitale malformaties, en als onderdeel van verschillende syndromen. Het defect kan aanvankelijk enkel milde symptomen veroorzaken, zoals pijn en beperkte flexie van de elleboog, maar kan uiteindelijk leiden tot gewrichtsinstabiliteit, dysplastische veranderingen van de radiuskop, en artritis."},"pt":{"name":"Luxação congénita do cotovelo","synonyms":["Luxação congénita da cabeça do rádio"]},"pl":{"name":"Wrodzone zwichnięcie stawu łokciowego","synonyms":["Wrodzone zwichnięcie głowy kości promieniowej"]},"cs":{"name":"Vrozená dislokace lokte","synonyms":["Vrozená dislokace hlavice radia"]},"uk":{"name":"Ізольований вроджений вивих головки променевої кістки","synonyms":["Ізольований вроджений вивих ліктьового суглоба"],"definition":"A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis."},"zh":{"name":"孤立性先天性桡骨头脱位","synonyms":["孤立性先天性肘关节脱位"],"definition":"桡骨头畸形一种罕见的先天性肢体畸形，主要表现为桡骨头在肱骨关节后脱位，较少发生前脱位或侧脱位。在大多病例中为双侧行，可为孤立性，也可伴随其他先天性畸形，也可为一些综合征的一部分表现。这种缺陷病初可只引起轻微症状，如疼痛和肘关节屈曲受限，但最终可致关节不稳定、桡骨头发育异常和关节炎。"},"tr":{"name":"İzole doğumsal radyal baş çıkığı","synonyms":["Doğumsal izole dirsek çıkığı"]}},"xrefs":[{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB92","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1593186141"},{"source":"MONDO","code":"0017469","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17469","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265563","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294951,"name":"Congenital joint dislocations","classifications":[147,156]}],"children":[{"orpha":295227,"name":"Congenital elbow dislocation, bilateral","type":"Clinical subtype"},{"orpha":295225,"name":"Congenital elbow dislocation, unilateral","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}