{"orpha":94056,"name":"Isolated humero-ulnar synostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital humeroulnar fusion"],"definition":"A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94056/","orphanet_url":"https://www.orpha.net/en/disease/detail/94056","names":{"fr":{"name":"Synostose huméro-cubitale isolée","synonyms":["Fusion huméro-cubitale congénitale isolée","Fusion huméro-ulnaire congénitale isolée","Fusion ulnohumérale congénitale isolée","Synostose huméro-ulnaire congénitale isolée"],"definition":"Anomalie rare de formation des articulations caractérisée par une fusion osseuse entre l'humérus et le cubitus, entraînant une flexion permanente de l'avant-bras, généralement à 90°. La maladie peut être associée à une hypoplasie des membres supérieurs. Elle peut être sporadique ou familiale, unilatérale ou bilatérale."},"de":{"name":"Synostose, humero-ulnare isolierte","synonyms":["Isolierte angeborene humero-ulnare Fusion"],"definition":"Eine seltene Fehlbildung des Gelenks, die durch eine knöcherne Verbindung zwischen Humerus und Ulna gekennzeichnet ist und zu einer fixierten Beugung des Unterarms führt, die normalerweise nahe bei 90 Grad liegt. Die Erkrankung kann mit einer Hypoplasie der oberen Gliedmaße einhergehen. Sie kann sporadisch oder familiär, ein- oder beidseitig auftreten."},"es":{"name":"Sinostosis húmero-cubital aislada","synonyms":["Fusión humerocubital congénita aislada"],"definition":"Es un defecto poco frecuente de formación de la articulación caracterizado por una conexión ósea entre el húmero y el cúbito, por lo general, cercana a los 90°, que da lugar a una flexión fija del antebrazo. Esta condición puede estar asociada a hipoplasia de las extremidades superiores. Puede ser esporádica o familiar y presentarse de forma uni- o bilateral."},"it":{"name":"Sinostosi omero-ulnare isolata","synonyms":["Fusione congenita isolata omero-ulnare"],"definition":"Si tratta di un difetto raro della formazione delle articolazioni, caratterizzato da una giunzione ossea tra l'omero e l'ulna, che si associa ad una flessione fissa dell'avambraccio, in genere prossima ai 90°. L'anomalia può associarsi all'ipoplasia degli arti superiori, può essere sporadica o familiare, mono- o bilaterale."},"nl":{"name":"Humero-ulnaire synostose","synonyms":["Humero-ulnaire fusie"],"definition":"Een zeldzaam defect van vorming van gewricht, gekarakteriseerd door een benige verbinding tussen humerus en ulna, wat resulteert in gefixeerde flexie van de onderarm, doorgaans in een hoek van bijna 90°. De aandoening kan geassocieerd zijn met hypoplasie van bovenste ledematen. Het kan sporadisch of familiaal zijn, en uni- of bilateraal voorkomen."},"pt":{"name":"Sinostose umero-cubital isolada","synonyms":["Fusão umero-cubital isolada"]},"pl":{"name":"Izolowana synostoza ramienno-łokciowa","synonyms":["Zrost kości ramiennej i łokciowej"]},"cs":{"name":"Humeroulnární synostóza","synonyms":["Humeroulnární fúze"]},"uk":{"name":"Ізольований гумероульнарний синостоз","synonyms":["Ізольований вроджений плечо-ліктьовий суглоб"],"definition":"A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally."},"zh":{"name":"肱尺关节骨性融合","synonyms":["肱尺关节骨性融合"]},"tr":{"name":"Humero-ulnar sinostoz","synonyms":["Humero-ulnar füzyon"]}},"xrefs":[{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB90.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2144695561"},{"source":"MONDO","code":"0019782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295213,"name":"OBSOLETE: Humero-ulnar synostosis, unilateral","status":"inactive"},{"type":"Referred to","orpha":295215,"name":"OBSOLETE: Humero-ulnar synostosis, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294949,"name":"Non-syndromic joint formation defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}