{"orpha":3269,"name":"Isolated radio-ulnar synostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital radioulnar fusion"],"definition":"Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3269/","orphanet_url":"https://www.orpha.net/en/disease/detail/3269","names":{"fr":{"name":"Synostose radio-ulnaire isolée","synonyms":["Fusion radio-cubitale congénitale isolée","Fusion radio-ulnaire congénitale isolée","Synostose radio-cubitale congénitale isolée"],"definition":"Maladie osseuse rare qui peut être isolée ou associée à d'autres maladies. Elle se caractérise par un défaut de segmentation du radius et de l'ulna au cours du développement embryonnaire, entraînant une limitation des mouvements de rotation de l'avant-bras, ce qui peut donner lieu à des difficultés dans certaines activités de la vie quotidienne."},"de":{"name":"Radio-ulnare Synostose, isolierte kongenitale","synonyms":["Isolierte angeborene radioulnare Fusion"]},"es":{"name":"Sinostosis radiocubital aislada","synonyms":["Fusión radiocubital congénita aislada"],"definition":"Es un trastorno óseo poco frecuente que se presenta de forma aislada o asociado a otros trastornos. Está caracterizado por un fallo en la segmentación del radio y del cúbito durante el desarrollo embrionario, limitando los movimientos de rotación del antebrazo que puede acarrear dificultades en algunas actividades de la vida diaria."},"it":{"name":"Sinostosi radio-ulnare isolata","synonyms":["Fusione radio-ulnare congenita isolata"],"definition":"La sinostosi radio-ulnare congenita è una malattia scheletrica rara che può essere isolata o associata ad altre malattie. È caratterizzata da un difetto della segmentazione del radio e dell'ulna durante lo sviluppo embrionale, con limitazione secondaria dei movimenti dell'avambraccio, che può causare difficoltà in alcune attività quotidiane."},"nl":{"name":"Geïsoleerde radio-ulnaire synostose","synonyms":["Geïsoleerde congenitale radio-ulnaire fusie"],"definition":"Congenitale radio-ulnaire synostose is een zeldzame botstoornis die geïsoleerd kan voorkomen of geassocieerd kan zijn met andere aandoeningen, en die gekarakteriseerd wordt door het falen van de opsplitsing van de radius (spaakbeen) en de ulna (ellepijp) tijdens de embryonale ontwikkeling, met als gevolg een beperking van de rotatiebewegingen van de onderarm, wat kan leiden tot moeilijkheden met sommige activiteiten in het dagelijkse leven."},"pt":{"name":"Sinostose radio-cubital isolada congénita","synonyms":["Fusão radio-cubital isolada congénita"]},"pl":{"name":"Izolowana synostoza promieniowo-łokciowa","synonyms":["Zrost promieniowo-łokciowy"]},"cs":{"name":"Synostosis radioulnaris congenita","synonyms":["Radioulnární fúze"]},"uk":{"name":"Ізольований радіо-ульнарний синостоз","synonyms":["Ізольоване вроджене променево-запясткове зрощення"],"definition":"Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living."},"zh":{"name":"先天性桡尺骨融合","synonyms":["桡尺骨融合"]},"tr":{"name":"Doğumsal radioulnar sinostoz","synonyms":["Radioulnar füzyon"]}},"xrefs":[{"source":"OMIM","code":"179300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB90.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1098526181"},{"source":"MONDO","code":"0017985","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925005","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10876","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295217,"name":"OBSOLETE: Radio-ulnar synostosis, unilateral","status":"inactive"},{"type":"Referred to","orpha":295219,"name":"OBSOLETE: Radio-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":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":350.0,"area":"Worldwide","status":"Validated","source":"22802806[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22802806[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-15","source":"28828125[PMID]_31138930[PMID]","terms":[{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002996","label":"Limited elbow movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006394","label":"Limited pronation/supination of forearm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001457","label":"Abnormality of the musculature of the upper arm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030834","label":"Shoulder pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030836","label":"Wrist pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very rare (<4-1%)","criteria":null}]}}