{"orpha":94095,"name":"OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Casamassima-Morton-Nance syndrome"],"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-94095/","orphanet_url":"https://www.orpha.net/en/disease/detail/94095","names":{"fr":{"name":"OBSOLETE : Syndrome de dysostose spondylocostale-atrésie anale-malformation génito-urinaire","synonyms":["OBSOLETE : Syndrome de Casamassima-Morton-Nance"]},"de":{"name":"OBSOLET: Spondylokostale Dysostose-Analatresie-Urogenitalfehlbildung-Syndrom","synonyms":["OBSOLET: Casamassima-Morton-Nance-Syndrom"]},"es":{"name":"OBSOLETO: Síndrome de disostosis espondilocostal-atresia anal-malformaciones genitourinarias","synonyms":["OBSOLETO: Síndrome de Casamassima-Morton-Nance"]},"it":{"name":"OBSOLETO: sindrome da disostosi spondilocostale, atresia anale e malformazioni genitourinarie","synonyms":["OBSOLETO: Sindrome di Casamassima-Morton-Nance"]},"nl":{"name":"OBSOLEET: Spondylocostale dysostose - anusatresie - urogenitale malformatie-syndroom","synonyms":["OBSOLEET: Syndroom van Casamassima-Morton-Nance"]},"pt":{"name":"OBSOLETO: Síndrome de disostose espondilocostal-atrésia anal-malformação genito-urinária","synonyms":["OBSOLETO: Síndrome Casamassima-Morton-Nance"]},"pl":{"name":"NIEAKTUALNE: Zespół dozostozy kręgowo-żebrowej-zarośnięcia odbytu-wad narządów moczowo-płciowych","synonyms":["NIEAKTUALNE: Zespół Casamassima, Mortona i Nancego"]},"cs":{"name":"NEAKTUÁLNÍ: Syndrom zahrnující spondylokostální dysostózu a anální a urogenitální malformace","synonyms":["NEAKTUÁLNÍ: Casamassimův-Mortonové-Nanceho syndrom","NEAKTUÁLNÍ: Casamassima-Morton-Nanceho syndrom"]},"uk":{"name":"ЗАСТАРІЛО: Синдром спондилокостального дизостозу-атрезії анального отвору-вад розвитку сечостатевої системи","synonyms":["ЗАСТАРІЛО: Синдром Казамассима-Мортона-Нанса"]},"zh":{"name":"脊椎肋骨发育不全-肛门闭锁-泌尿生殖道畸形综合征","synonyms":["Casamassima-Morton-Nance综合征"],"definition":"脊椎肋骨发育不良-肛门和泌尿生殖系统畸形综合征的特征是脊椎肋骨发育不良与肛门合并泌尿生殖系统畸形（肛门闭锁和内外生殖器发育不全）。迄今为止，既往文献中只有四个病例被报道。该病呈常染色体隐性遗传。"},"tr":{"name":"Spondilokostal dizostoz-anal atrezi-genitoüriner malformasyon sendromu","synonyms":["Casamassima-Morton-Nance 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}