{"orpha":3265,"name":"Isolated humero-radial synostosis","type":"Morphological anomaly","group":"Disorder","status":"historical","flags":[],"synonyms":["Isolated congenital humeroradial fusion"],"definition":"Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3265/","orphanet_url":"https://www.orpha.net/en/disease/detail/3265","names":{"fr":{"name":"Synostose huméro-radiale isolée","synonyms":["Fusion huméro-radiale congénitale isolée"],"definition":"Anomalie rare, congénitale et génétique de formation des articulations, caractérisée par une fusion uni- ou bilatérale de l'humérus et du radius au niveau du coude, avec ou sans anomalies associées de l'ulna et du carpe/métacarpe, entraînant une perte de mobilité du coude et, dans de nombreux cas, une incapacité fonctionnelle du bras. Un radius courbé peut également être présent."},"de":{"name":"Synostose, humero-radiale isolierte","synonyms":["Humeroradiale Fusion, isolierte kongenitale"]},"es":{"name":"Sinostosis húmero-radial aislada","synonyms":["Fusión húmero-radial congénita aislada"],"definition":"La sinostosis húmero-radial, es un defecto congénito, genético y poco frecuente, de la formación articular, caracterizado por la fusión uni- o bilateral del húmero y de los huesos del radio a nivel del codo, con o sin deficiencia cubital y carpiana / metacarpiana asociada, que conduce a la pérdida de movimiento del codo y, en muchos casos, a incapacidad funcional del brazo. También puede presentar arqueamiento del radio."},"it":{"name":"Sinostosi omero-radiale isolata","synonyms":["Fusione omeroradiale isolata congenita"],"definition":"La sinostosi omero-radiale è un difetto genetico congenito raro della formazione delle articolazioni, caratterizzato dalla fusione mono- o bi-laterale delle ossa dell'omero e del radio all'altezza del gomito, con o senza deficit ulnare e carpale/metacarpale, con conseguente perdita della mobilità del gomito e, in molti pazienti, difetto funzionale del braccio. Può associarsi ad un incurvamento del radio."},"nl":{"name":"Geïsoleerde humeroradiale synostose","synonyms":["Geïsoleerde congenitale humeroradiale fusie"],"definition":"Humero-radiale synostose is een zeldzame, genetische, congenitale stoornis van de gewrichtsvorming die wordt gekarakteriseerd door uni- of bilaterale fusie van het opperarmbeen en het spaakbeen ter hoogte van de elleboog, met of zonder geassocieerde deficiëntie van de ulna en carpalen/metacarpalen, wat leidt tot een verlies van de beweeglijkheid van de elleboog en, in vele gevallen, gebrekkige armfunctie. Bijkomend kan buiging van het spaakbeen aanwezig zijn."},"pt":{"name":"Sinostose úmero-radial isolada","synonyms":["Fusão úmero-radial congénita isolada"]},"pl":{"name":"Izolowana synostoza ramienna i promieniowa","synonyms":["Zrost ramienno-promieniowy"],"definition":"*Synostoza ramienno-promieniowa jest rzadkim, genetycznie uwarunkowanym, wrodzonym zaburzeniem rozwoju stawów, które charakteryzuje się jedno- lub obustronnym zespoleniem kości ramiennej i promieniowej na poziomie łokcia, z lub bez towarzyszących ubytków w obrębie łokcia i nadgarstka/śródręcza; prowadzi do utraty ruchomości łokcia, a w wielu przypadkach do zaburzeń czynnościowych ramienia. Dodatkowo może występować łukowate wygięcie kości promieniowej."},"cs":{"name":"Humeroradiální synostóza","synonyms":["Humeroradiální fúze"]},"uk":{"name":"Ізольований гумерорадіальний синостоз","synonyms":["Ізольований вроджений плечопроменевий суглоб"],"definition":"Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present."},"zh":{"name":"肱桡骨融合","synonyms":["肱骨-桡骨融合"]},"tr":{"name":"Humero-radyal sinostoz","synonyms":["Humero-radyal füzyon"]}},"xrefs":[{"source":"OMIM","code":"236400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB90.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"518723993"},{"source":"MONDO","code":"0007737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925001","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2748","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295209,"name":"OBSOLETE: Humero-radial synostosis, unilateral","status":"inactive"},{"type":"Referred to","orpha":295211,"name":"OBSOLETE: Humero-radial 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":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"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":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003070","label":"Elbow ankylosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Occasional (29-5%)","criteria":null}]}}