{"orpha":329252,"name":"OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Dysostosis with predominant vertebral and costal involvement","url":"https://raremap.alftech.space/d/ORPHA-329252/","orphanet_url":"https://www.orpha.net/en/disease/detail/329252","names":{"fr":{"name":"OBSOLETE : Syndrome de dysostose spondylocostale-hypospadias-déficience intellectuelle"},"de":{"name":"OBSOLET: Spondylokostale Dysostose-Hypospadie-Intelligenzminderung-Syndrom"},"es":{"name":"OBSOLETO: Síndrome de disostosis espondilocostal-hipospadias-discapacidad intelectual"},"it":{"name":"OBSOLETO: Sindrome da disostosi spondilocostale, ipospadia e disabilità intelletiva"},"nl":{"name":"OBSOLEET: Spondylocostale dysostose - hypospadie - intellectuele achterstand-syndroom"},"pt":{"name":"OBSOLETO: Síndrome de disostose espondilocostal-hipospádias-perturbação do desenvolvimento intelectual"},"pl":{"name":"NIEAKTUALNE: Dyzostoza kręgowo-żebrowa - spodziectwo - niepełnosprawność intelektualna"},"cs":{"name":"NEAKTUÁLNÍ: Syndrom zahrnující spondylokostální dysostózu, hypospadii a mentální retardaci"},"uk":{"name":"ЗАСТАРІЛО: Синдром спондилокостального дизостозу-гіпоспадії-інтелектуальної недостатності"},"zh":{"name":"脊椎肋骨发育不良-尿道下裂-智力障碍综合征","definition":"脊椎肋骨发育不良-尿道下裂-智力障碍综合征是一种罕见的遗传性骨发育障碍，其特征是全身性椎体分割和融合缺陷、不成比例的身材矮小（躯干短为主）和胸腰椎脊柱侧凸，伴有轻度智力障碍、尿道下裂，部分皮肤并指畸形及手指轻度天鹅颈状畸形。"},"tr":{"name":"Spondilokostal dizostoz-hipospadias-zihinsel yetersizlik sendromu"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}