{"orpha":300382,"name":"Progeroid and marfanoid aspect-lipodystrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300382/","orphanet_url":"https://www.orpha.net/en/disease/detail/300382","names":{"fr":{"name":"Syndrome d'apparence progéroïde et marfanoïde-lipodystrophie","definition":"Maladie systémique rare caractérisée par une apparence progéroïde néonatale (sans association avec d'autres manifestations de vieillissement prématuré), une dysmorphie faciale (macrocéphalie ou hydrocéphalie arrêtée, exophtalmie, fentes palpébrales inclinées vers le bas, rétrognathie), un manque généralisé, extrême et congénital de tissu adipeux sous-cutané (hormis dans les régions iliaque et mammaire) et certains signes du syndrome de Marfan (principalement myopie sévère, hyperlaxité et arachnodactylie). Aucun trouble métabolique n'est associé."},"de":{"name":"Lipodystrophie-Syndrom mit marfanoiden und progeroiden Merkmalen"},"es":{"name":"Síndrome de aspecto progeroide y marfanoide-lipodistrofia","definition":"El síndrome de aspecto progeroide y marfanoide - lipodistrofia, es una enfermedad sistémica poco frecuente caracterizada por apariencia neonatal progeroide (no asociada con otras manifestaciones de envejecimiento prematuro) asociada a dismorfia facial (p. ej. macrocefalia o hidrocefalia por estenosis del acueducto, proptosis, fisuras palpebrales inclinadas hacia abajo, retrognatia), ausencia congénita de tejido adiposo subcutáneo generalizada y extrema (excepto en la región ilíaca y de las mamas) y signos incompletos del síndrome de Marfan (principalmente miopía grave, hiperextensibilidad articular y aracnodactilia). No tiene asociadas alteraciones metabólicas."},"it":{"name":"Sindrome dall'aspetto progeroide e marfanoide con lipodistrofia","definition":"La sindrome che associa l'aspetto progeroide e marfanoide e la lipodistrofia è una malattia sistemica rara, caratterizzata da aspetto progeroide neonatale (in assenza di altri segni clinici indicativi di un invecchiamento precoce) associato a dismorfismi facciali (macrocefalia o idrocefalo arrestato, proptosi, rime palpebrali oblique verso il basso, retrognazia), carenza congenita estrema e generalizzata del tessuto adiposo (ad eccezione delle mammelle e della regione iliaca) e segni incompleti della sindrome di Marfan (soprattutto miopia grave, iperestensibilità articolare ed aracnodattilia). I pazienti non presentano disturbi metabolici."},"nl":{"name":"Progeroïd en marfanoïd uiterlijk - lipodystrofie-syndroom","definition":"Progeroïd en marfanoïd aspect - lipodystrofie-syndroom is een zeldzame systemische ziekte die gekarakteriseerd wordt door neonataal progeroïd uiterlijk (niet geassocieerd met andere manifestaties van premature veroudering), geassocieerd met faciale dysmorfie (e.g. macrocefalie of onderbroken hydrocefalie, proptosis, schuin naar beneden hellende ooglidspleten, retrognathie), gegeneraliseerd, extreem, congenitaal gebrek aan subcutaan vetweefsel (behalve in de borst en het bekkengebied) en onvolledige tekenen van syndroom van Marfan (voornamelijk ernstige myopie, hyperextensibiliteit van gewrichten en arachnodactylie). Metabole stoornissen zijn niet geassocieerd."},"pt":{"name":"Síndrome com fenótipo marfanóide e progeróide - lipodistrofia"},"pl":{"name":"Zespół progeroidalny i marfanoidalny-lipodystrofia","definition":"*Zespół progeroidalny i marfanoidalny-lipodystrofia jest rzadką chorobą ogólnoustrojową, która charakteryzuje się starczym wyglądem noworodka (bez innych objawów przedwczesnego starzenia) oraz dysmorfią twarzy (tj. wielkogłowie albo zatrzymane wodogłowie, wytrzeszcz, skośno-dolne ustawienie szpar powiekowych, cofnięta żuchwa), uogólnionym ciężkim, wrodzonym brakiem podskórnej tkanki tłuszczowej (z wyjątkiem piersi i okolicy biodrowej) oraz niepełnymi objawami zespołu Marfana (głównie ciężka krótkowzroczność, nadmierna ruchomość/rozciągliwość stawów i arachnodaktylia - długie, pająkowate palce). Nie występują zaburzenia metaboliczne."},"cs":{"name":"Syndrom zahrnující progeroidní a marfanoidní vzhled a lipodystrofii"},"uk":{"name":"Синдром прогероїдного та марфаноїдного аспекту-ліподистрофії","definition":"A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated."},"zh":{"name":"早衰样和马凡氏样外表-脂营养不良综合征","definition":"类早衰与马凡综合征样-脂营养不良综合征是一种罕见的全身性疾病，其特征是新生儿早衰面容（与早衰的其他表现无关）伴面部畸形（如大头畸形或脑积水、眼球突出、下斜睑裂、下颌后缩），先天性皮下脂肪组织极度缺乏（乳房和髂骨区除外）和马凡综合征的不完全体征（主要是严重近视、关节伸展过度和细长指(趾)）。与代谢紊乱无关。"},"tr":{"name":"Progeroid ve marfanoid görünüş-lipodistrofi sendromu"}},"xrefs":[{"source":"OMIM","code":"616914","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014831","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751111","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21594992[PMID]_21594993[PMID]","hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24613577[PMID]_24665001[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}