{"orpha":50817,"name":"Duane anomaly-myopathy-scoliosis syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Verloes-Deprez syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Horizontal gaze palsy with progressive scoliosis","url":"https://raremap.alftech.space/d/ORPHA-50817/","orphanet_url":"https://www.orpha.net/en/disease/detail/50817","names":{"fr":{"name":"Syndrome d'anomalie de Duane-myopathie-scoliose","synonyms":["Syndrome de Verloes-Deprez"]},"de":{"name":"Duane-Anomalie-Myopathie-Skoliose-Syndrom","synonyms":["Verloes-Deprez-Syndrom"]},"es":{"name":"Síndrome de anomalía de Duane-miopatía-escoliosis","synonyms":["Síndrome de Verloes-Deprez"]},"it":{"name":"Anomalia di Duane - miopatia - scoliosi","synonyms":["Sindrome di Verloes-Deprez"]},"nl":{"name":"Duane-anomalie - myopathie - scoliose-syndroom","synonyms":["Syndroom van Verloes-Deprez"]},"pt":{"name":"Síndrome de anomalia Duane-miopatia-escoliose","synonyms":["Síndrome Verloes-Deprez"]},"pl":{"name":"Anomalia Duane'a - miopatia- skolioza","synonyms":["Zespół Verloesa i Depreza"]},"cs":{"name":"Syndrom zahrnující Duaneho anomálii, myopatii a skoliózu","synonyms":["Verloesův-Deprezův syndrom","Verloes-Deprezův syndrom"]},"uk":{"name":"Синдром аномалії Дуейна-міопатії-сколіозу","synonyms":["Синдром Верлоеса-Депреса"],"definition":"A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal."},"zh":{"name":"Duane畸形-肌病-脊柱侧凸综合征","synonyms":["Verloes-Deprez综合征"]},"tr":{"name":"Duane anomalisi-miyopati-skolyoz sendromu","synonyms":["Verloes-Deprez sendromu"]}},"xrefs":[{"source":"MONDO","code":"0033672","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302550","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":2744,"name":"Horizontal gaze palsy with progressive scoliosis"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}