{"orpha":314718,"name":"Lethal arteriopathy syndrome due to fibulin-4 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314718/","orphanet_url":"https://www.orpha.net/en/disease/detail/314718","names":{"fr":{"name":"Syndrome d'artériopathie létale par déficit en fibuline-4","definition":"Maladie vasculaire génétique rare caractérisée par une dilatation anévrismale sévère, une élongation et une tortuosité de l'aorte thoracique, de ses branches et des artères pulmonaires avec une sténose à divers endroits typiques, entraînant généralement le décès du nourrisson. Inconstantes, les caractéristiques associées peuvent être cutis laxa, philtrum long et vermillon à bordure fine, hypertélorisme, joues tombantes, arachnodactylie, laxité articulaire et déformations du thorax."},"de":{"name":"Letales Arteriopathie-Syndrom durch Fibulin-4-Mangel"},"es":{"name":"Síndrome de arteriopatía letal por deficiencia de fibulina-4","definition":"El síndrome de arteriopatía letal por deficiencia de fibulina-4 es un trastorno vascular, genético y poco frecuente, caracterizado por una severa dilatación aneurismática, elongación y tortuosidad de la aorta torácica, de sus ramas y de las arterias pulmonares con estenosis en distintas localizaciones típicas, resultando habitualmente en muerte infantil. Otras características variables asociadas pueden incluir cutis laxa, surco nasolabial largo con borde bermellón fino, hipertelorismo, mejillas flácidas, aracnodactilia, laxitud articular y malformaciones torácicas."},"it":{"name":"Sindrome da arteriopatia letale secondaria al deficit di fibulina-4","definition":"La sindrome da arteriopatia letale secondaria al deficit di fibulina-4 è una malattia vascolare genetica rara, caratterizzata da grave dilatazione aneurismatica, allungamento e tortuosità dell'aorta toracica, dei suoi rami e delle arterie polmonari con stenosi multiple, che di solito esita nella morte durante l'infanzia. Si associa variabilmente a cutis laxa, filtro lungo con assottigliamento della porzione mucosa del labbro, ipertelorismo, guance cadenti, aracnodattilia, lassità cutanea e deformità del torace."},"nl":{"name":"Letaal arteriopathiesyndroom door fibuline-4-deficiëntie","definition":"Letaal arteriopathiesyndroom door fibuline-4 deficiëntie is een zeldzame, genetische, vasculaire stoornis die gekarakteriseerd wordt door ernstige aneurysmale dilatatie, elongatie, en tortuositeit van de thoracale aorta, vertakkingen hiervan en pulmonale arteriën met stenose op verscheidene typische locaties, en die doorgaans resulteert in infantiel overlijden. Mogelijke variabel geassocieerde kenmerken zijn onder meer cutis laxa, lang filtrum met dunne vermiljoengrens, hypertelorisme, ingezakte wangen, arachnodactylie, gewrichtslaxiteit en pectus-misvormingen."},"pt":{"name":"Síndrome de arteriopatia letal devido à deficiência de FBLN4"},"pl":{"name":"Zespół śmiertelnej arteriopatii z powodu niedoboru fibuliny-4","definition":"*Zespół śmiertelnej arteriopatii z powodu niedoboru fibuliny-4 jest rzadkim, genetycznie uwarunkowanym schorzeniem naczyń, które charakteryzuje się ciężkim tętniakowatym rozszerzeniem, wydłużeniem i krętym przebiegiem aorty piersiowej, jej odgałęzień i tętnic płucnych ze zwężeniem w różnych typowych lokalizacjach i zwykle prowadzi do zgonu w wieku niemowlęcym. Towarzyszyć mogą różne objawy takie jak nadmiernie luźna skóra, długa rynienka podnosowa z cienkim brzegiem czerwieni wargowej, hiperteloryzm, obwisłe policzki, arachnodaktylia (długie, pająkowate palce dłoni), wiotkość stawowa i deformacje klatki piersiowej."},"cs":{"name":"Syndrom letální arteriopatie způsobený deficitem fibulinu-4"},"uk":{"name":"Синдром летальної артеріопатії, зумовлений дефіцитом фібуліну-4","definition":"A rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities."},"zh":{"name":"纤维蛋白-4缺乏所致致死性动脉病综合征","definition":"由于fibulin-4缺乏导致的致死性动脉病变综合征是一种罕见的遗传性血管疾病，其特征是胸主动脉及其分支和肺动脉的动脉瘤严重扩张、延长和弯曲，并在多个典型位置狭窄，通常导致婴儿死亡。可出现的相关特征可能包括皮肤松弛，人中长伴有唇缘薄，眼距过宽，脸颊下垂，蜘蛛脚样指（趾），关节松弛和胸廓畸形。"},"tr":{"name":"Fibulin-4 eksikliğine bağlı letal arteriopati sendromu"}},"xrefs":[{"source":"OMIM","code":"614437","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8B.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017818","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190604","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"orpha":233655,"name":"Rare genetic vascular disease","classifications":[156,198]}],"children":[],"genes":[{"symbol":"EFEMP2","name":"EGF-like fibulin extracellular matrix protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22943132[PMID]","hgnc":"3219","ensembl":"ENSG00000172638","omim":"604633","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"22943132[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}