{"orpha":66630,"name":"Congenital pseudoarthrosis of the clavicle","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital pseudarthrosis of the clavicle"],"definition":"A rare dysostosis of genetic origin characterized by a painless mass over the clavicle which is due to the failure of the union process of the ossification nuclei of the clavicle.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66630/","orphanet_url":"https://www.orpha.net/en/disease/detail/66630","names":{"fr":{"name":"Pseudoarthrose congénitale de la clavicule","synonyms":["Pseudarthrose congénitale de la clavicule"],"definition":"Dysostose rare d'origine génétique caractérisée par une masse indolore au niveau de la clavicule due à l'échec du processus de fusion des noyaux d'ossification de la clavicule."},"de":{"name":"Pseudoarthrose der Klavikula, kongenitale","synonyms":["Klavikulapseudarthrose, kongenitale"],"definition":"Eine seltene Dysostose genetischen Ursprungs, die durch eine schmerzlose Gewebeverdichtung über dem Schlüsselbein gekennzeichnet ist, die auf ein Versagen des Vereinigungsprozesses der Verknöcherungskerne des Schlüsselbeins zurückzuführen ist."},"es":{"name":"Pseudoartrosis congénita de clavícula","definition":"Es una disostosis poco frecuente de origen genético caracterizada por una masa indolora sobre la clavícula como resultado de un fallo del proceso de unión de los núcleos de osificación de la clavícula."},"it":{"name":"Pseudoartrosi congenita della clavicola"},"nl":{"name":"Congenitale pseudoartrose van clavicula","synonyms":["Congenitale pseudartrose van clavicula","Congenitale pseudoartrose van sleutelbeen"],"definition":"Een zeldzame dysostose van genetische oorsprong, gekenmerkt door een pijnloze massa ter hoogte van clavicula ten gevolge van gefaalde versmelting van ossificatiecentra van het sleutelbeen."},"pt":{"name":"Pseudoartrose da clavícula congénita","definition":"Disostose rara de origem genética caracterizada por uma massa indolor sobre a clavícula que ocorre devido à falha no processo de união dos núcleos de ossificação da clavícula."},"pl":{"name":"Wrodzone stawy rzekome obojczyków","synonyms":["Congenital pseudarthrosis of the clavicle"]},"cs":{"name":"Vrozená pseudoartróza klavikuly","synonyms":["Congenital pseudarthrosis of the clavicle"]},"uk":{"name":"Вроджений псевдоартроз ключиці","synonyms":["Вроджений псевдоартроз ключиці"],"definition":"A rare dysostosis of genetic origin characterized by a painless mass over the clavicle which is due to the failure of the union process of the ossification nuclei of the clavicle."},"zh":{"name":"先天性锁骨假性关节病","synonyms":["先天性锁骨假关节"]},"tr":{"name":"Klavikulanın doğumsal psödoartrozu","synonyms":["Klavikulanın Doğumsal psödartrozu"]}},"xrefs":[{"source":"OMIM","code":"118980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB72.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1844778103"},{"source":"MONDO","code":"0007330","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562548","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265565","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364559,"name":"Dysostosis","classifications":[147,199]},{"orpha":404568,"name":"Dysostosis of genetic origin","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006585","label":"Congenital pseudoarthrosis of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000891","label":"Cervical ribs","frequency":"Occasional (29-5%)","criteria":null}]}}