{"orpha":2787,"name":"OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Heide syndrome"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Primary bone dysplasia with decreased bone density","url":"https://raremap.alftech.space/d/ORPHA-2787/","orphanet_url":"https://www.orpha.net/en/disease/detail/2787","names":{"fr":{"name":"OBSOLETE : Syndrome d'ostéoporose-macrocéphalie-cécité-hyperlaxité articulaire","synonyms":["OBSOLETE : Syndrome de Heide"]},"de":{"name":"OBSOLET: Osteoporose-Makrozephalie-Blindheit-Gelenkinstabilität-Syndrom","synonyms":["OBSOLET: Heide-Syndrom"]},"es":{"name":"OBSOLETO: Síndrome de osteoporosis-macrocefalia-ceguera-hiperlaxitud articular","synonyms":["OBSOLETO: Síndrome de Heide"]},"it":{"name":"OBSOLETO: Sindrome osteoporosi-macrocefalia-cecità-iperlassità articolare","synonyms":["OBSOLETO: Sindrome di Heide"]},"nl":{"name":"OBSOLEET: Osteoporose - macrocefalie - blindheid - gewrichtshyperlaxiteit-syndroom","synonyms":["OBSOLEET: Syndroom van Heide"]},"pt":{"name":"OBSOLETO: Síndrome de osteoporose-macrocefalia-cegueira-hipermobilidade articular","synonyms":["OBSOLETO: Síndrome Heide"]},"pl":{"name":"NIEAKTUALNE: Zespół osteoporozy, makrocefalii, ślepoty i nadmiernej ruchomości stawów","synonyms":["NIEAKTUALNE: Zespół Heidego"]},"cs":{"name":"NEAKTUÁLNÍ: Syndrom zahrnující osteoporózu, makrocefalii, slepotu a kloubní hyperlaxitu","synonyms":["NEAKTUÁLNÍ: Heideho syndrome"]},"uk":{"name":"Синдром остеопорозу-макроцефалії-сліпоти- гіперлабільності суглобів","synonyms":["Синдром Гейде"],"definition":"A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981."},"zh":{"name":"骨质疏松症-大头畸形-失明-关节过度松弛综合征","synonyms":["Heide综合征"]},"tr":{"name":"Osteoporoz-makrosefali-körlük-eklem hiperlaksite sendromu","synonyms":["Heide sendromu"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":93446,"name":"Primary bone dysplasia with decreased bone density"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}