{"orpha":86914,"name":"Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86914/","orphanet_url":"https://www.orpha.net/en/disease/detail/86914","names":{"fr":{"name":"Syndrome de lymphoedème-anomalie cérébrale artérioveineuse-hypertension pulmonaire primitive","synonyms":["Syndrome de lymphoedème-anomalie cérébrale artérioveineuse-hypertension pulmonaire idiopathique"],"definition":"Syndrome de lymphoedème-anomalie cérébrale artério-veineuse est caractérisé par l'association variable de malformations artérioveineuses cérébrales, de lymphoedèmes des membres inférieurs et d'hypertension artérielle pulmonaire. Il a été décrit chez une femme et quatre de ses enfants. Aucun cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"Lymphödem-zerebrale arteriovenöse Fehlbildung-primäre pulmonale Hypertonie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch unterschiedliche Kombinationen von zerebro-vaskulären Fehlbildungen, Lymphödem der Füße und primärem arteriellen Lungenhochdruck. Es wurde bei 1 Frau und 4 ihrer Kinder beschrieben.Seit 1986 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de linfedema-anomalía arteriovenosa cerebral-hipertensión pulmonar primaria","definition":"Es un síndrome caracterizado por la asociación variable de malformación cerebrovascular, linfedema del pie e hipertensión pulmonar primaria. Se ha notificado en una mujer y cuatro de sus hijos. No ha habido más descripciones en la literatura desde 1986."},"it":{"name":"Sindrome da linfedema-anomalie arterovenose cerebrali-ipertensione polmonare primitiva"},"nl":{"name":"Lymfoedeem - cerebrale arterioveneuze anomalie - primaire pulmonale hypertensie-syndroom","definition":"Lymfoedeem - cerebrale arterioveneuze anomalie-syndroom wordt gekenmerkt door variabele associatie van een cerebrovasculaire malformatie, lymfoedeem van voet, en primaire pulmonale hypertensie. Het syndroom werd beschreven bij een vrouw en vier van haar kinderen."},"pt":{"name":"Síndrome de linfedema-anomalia arteriovenosa cerebral-hipertensão pulmonar primária"},"pl":{"name":"Zespół obrzęku limfatycznego-anomalii tętniczo-żylnej mózgu","synonyms":["Zespół obrzęku limfatycznego, anomalii tętniczo-żylnej mózgu oraz pierwotnego nadciśnienia płucnego"]},"cs":{"name":"Syndrom zahrnující lymfedém a arteriovenózní anomálie v mozku"},"uk":{"name":"Синдром лімфедеми-церебральної артеріовенозної аномалії-первинної легеневої гіпертензії","definition":"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986."},"zh":{"name":"淋巴水肿-脑动静脉异常综合征"},"tr":{"name":"Lenfödem-serebral arteriyovenöz anomali sendromu"}},"xrefs":[{"source":"OMIM","code":"152900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q28.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007917","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":211277,"name":"Syndromic combined vascular malformation","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent"],"prevalence":[],"phenotypes":null}