{"orpha":1317,"name":"CAMFAK syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["CAMAK syndrome","Cataract-microcephaly-arthrogryposis-kyphosis syndrome","Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to COFS syndrome","url":"https://raremap.alftech.space/d/ORPHA-1317/","orphanet_url":"https://www.orpha.net/en/disease/detail/1317","names":{"fr":{"name":"Syndrome CAMFAK","synonyms":["Syndrome CAMAK","Syndrome de cataracte-microcéphalie-arthrogrypose-cyphose","Syndrome de cataracte-microcéphalie-retard stauro-pondéral-cyphoscoliose"]},"de":{"name":"CAMFAK-Syndrom","synonyms":["Katarakt-Mikrozephalie-Arthrogrypose-Kyphose-Syndrom","Katarakt-Mikrozephalie-Wachstumsstörung-Kyphoskoliose-Syndrom"]},"es":{"name":"Síndrome CAMFAK"},"it":{"name":"Sindrome CAMFAK","synonyms":["Cataratta - microcefalia - artrogriposi - cifosi","Cataratta - microcefalia - difetto di crescita - cifoscoliosi","Sindrome CAMAK"]},"nl":{"name":"CAMFAK-syndroom","synonyms":["CAMAK-syndroom","Cataract - microcefalie - artrogrypose - kyfose-syndroom","Cataract - microcefalie - groeifalen - kyfoscoliose-syndroom"]},"pt":{"name":"Síndrome CAMFAK","synonyms":["Síndrome de catarata-microcefalia-perturbação do desenvolvimento-cifoscoliose"]},"pl":{"name":"Zespół CAMFAK","synonyms":["Zaćma - małogłowie - artrogrypoza - kifoza","Zaćma - małogłowie - zahamowanie wzrostu - kifoskolioza","Zespół CAMAK"]},"cs":{"name":"CAMFAK syndrom","synonyms":["CAMAK syndrom","Syndrom zahrnující kataraktu, mikrocefalii, artrogrypózu a kyfózu","Syndrom zahrnující kataraktu, mikrocefalii, neprospívání a kyfoskoliózu"]},"uk":{"name":"Синдром CAMFAK","synonyms":["Синдром САМАК","Синдром катаракти-мікроцефалії-артрогрипозу-кіфозу","Синдром катаракти-мікроцефалії-відставання в розвитку-кіфосколіозу"]},"zh":{"name":"CAMFAK综合征","synonyms":["白内障-小头畸形-生长受限-脊柱后凸综合征"]},"tr":{"name":"CAMFAK sendromu","synonyms":["CAMAK sendromu","Katarakt-mikrosefali-artrogripozis-kifoz sendromu","Katarakt-mikrosefali-kifoskolyoz sendromunun gelişememesi"]}},"xrefs":[{"source":"OMIM","code":"212540","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859312","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":1466,"name":"COFS syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}