{"orpha":141194,"name":"OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: CAMS1"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Cerebrofacial arteriovenous metameric syndrome","url":"https://raremap.alftech.space/d/ORPHA-141194/","orphanet_url":"https://www.orpha.net/en/disease/detail/141194","names":{"fr":{"name":"OBSOLETE : Syndrome métamérique artérioveineux cérébro-facial type 1","synonyms":["OBSOLETE : CAMS1"]},"de":{"name":"OBSOLET: Zerebrofaziales arteriovenöses metameres Syndrom Typ 1","synonyms":["OBSOLET: CAMS1"]},"es":{"name":"OBSOLETO: Síndrome arteriovenoso cerebrofacial metamérico tipo 1","synonyms":["OBSOLETO: CAMS1"]},"it":{"name":"OBSOLETO: Sindrome metamerica arterovenosa cerebrofacciale tipo 1","synonyms":["OBSOLETO: CAMS1"]},"nl":{"name":"OBSOLEET: Cerebrofaciaal arterioveneus metamerisch syndroom type 1","synonyms":["NIET ZELDZAME ZIEKTE IN EUROPA: CAMS1"]},"pt":{"name":"OBSOLETO: Síndrome metamérico arteriovenoso cerebrofacial, tipo 1"},"pl":{"name":"NIEAKTUALNE: Zespół tętniczo-żylnej metamerii mózgowo-twarzowej typu 1","synonyms":["NIEAKTUALNE: CAMS1"]},"cs":{"name":"NEAKTUÁLNÍ: Cerebrofaciální arteriovenózní metamerický syndrom, typ 1","synonyms":["NEAKTUÁLNÍ: CAMS1"]},"uk":{"name":"Цереброфаціальний артеріовенозний метамерний синдром, тип 1","synonyms":["CAMS1"],"definition":"A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry."},"zh":{"name":"大脑面部动静脉畸形综合征1型","synonyms":["CAMS1"],"definition":"脑面动静脉节段性综合征的一种罕见亚型，其特征是累及下丘脑和鼻部的单侧动静脉畸形（内侧前脑组）。该病童年期出现。常见的体征和症状为进行性神经功能缺损、出血和面部不对称等面容疾病。"},"tr":{"name":"Serebrofasiyal arteriyovenöz metamerik sendrom tip 1","synonyms":["CAMS1"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":141189,"name":"Cerebrofacial arteriovenous metameric syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}