{"orpha":1251,"name":"Blepharofacioskeletal syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Richieri Costa-Guion Almeida-Rodini syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schilbach-Rott syndrome","url":"https://raremap.alftech.space/d/ORPHA-1251/","orphanet_url":"https://www.orpha.net/en/disease/detail/1251","names":{"fr":{"name":"Syndrome blépharo-facio-squelettique","synonyms":["Syndrome de Richieri Costa-Guion Almeida-Rodini"]},"de":{"name":"Blepharo-fazio-skelettales Syndrom","synonyms":["Richieri-Costa-Guion-Almeida Rodini-Syndrom"]},"es":{"name":"Síndrome blefaro-facio-esquelético","synonyms":["Síndrome de Richieri Costa-Guion Almeida-Rodini"]},"it":{"name":"Sindrome blefaro-facio-scheletrica","synonyms":["Sindrome di Richieri Costa-Guion Almeida-Rodini"]},"nl":{"name":"Blefaro-facio-skeletaal syndroom","synonyms":["Richieri Costa-Guion-Almeida-Rodinisyndroom"]},"pt":{"name":"Síndrome blefaro-facio-esquelético"},"pl":{"name":"Zespół powiekowo-twarzowo szkieletowy","synonyms":["Zespół Richieri Costa, Guion Almeida i Rodini"]},"cs":{"name":"Blefarofacioskeletální syndrom","synonyms":["Richieri Costův-Guion Almeidaové-Rodiniové syndrom","Richieri Costa-Guion Almeida-Rodiniové syndrom"]},"uk":{"name":"Блефарофаціоскелетний синдром","synonyms":["Синдром Річчієрі Коста-Гійона Альмейда-Родіні"]},"zh":{"name":"睑面骨骼综合征","synonyms":["Richieri-Costa-Guion-Almeida-Rodini综合征"]},"tr":{"name":"Blefarofasiyoskeletal sendrom","synonyms":["Richieri Costa-Guion Almeida-Rodini sendromu"]}},"xrefs":[],"associations":[{"type":"Moved to","orpha":2353,"name":"Schilbach-Rott syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}