{"orpha":2464,"name":"Marfanoid syndrome, De Silva type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2464/","orphanet_url":"https://www.orpha.net/en/disease/detail/2464","names":{"fr":{"name":"Syndrome marfanoïde type de Silva","definition":"Malformation intestinale syndromique rare associant des caractéristiques marfanoïdes (notamment un habitus marfanoïde, une myopie sévère, un décollement de la rétine et un prolapsus valvulaire mitral) et des diverticules viscérales (hernie inguinale et/ou fémorale et diverticules du gros et du petit intestin ou de la vessie). Certains patients présentent également une éventration diaphragmatique. Aucun cas n'a été décrit dans la littérature depuis 1996."},"de":{"name":"Marfanoides-Syndrom vom Typ de Silva","definition":"Eine seltene syndromale Fehlbildung des Darms, die durch die Assoziation von marfanoiden Merkmalen (einschließlich marfanoider Habitus, schwere Myopie, Netzhautablösung und Mitralklappenprolaps) mit viszeralen Divertikeln (Leisten- und/oder Oberschenkelbruch und Divertikel des Dick- und Dünndarms oder der Harnblase) gekennzeichnet ist. Einige Patienten hatten auch eine Zwerchfellausstülpung. Seit 1996 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome marfanoide tipo De Silva","definition":"Es una malformación intestinal sindrómica y poco frecuente caracterizada por la asociación de rasgos marfanoides (incluyendo hábito marfanoide, miopía grave, desprendimiento de retina y prolapso de la válvula mitral) con divertículos viscerales (hernia inguinal y/o femoral y divertículos del intestino grueso y delgado o de la vejiga). Algunos pacientes también presentaron eventración diafragmática. No ha habido más casos descritos en la literatura desde 1996."},"it":{"name":"Sindrome marfanoide, tipo De Silva","definition":"Si tratta di una malformazione intestinale sindromica rara, caratterizzata da segni marfanoidi (habitus marfanoide, miopia grave, distacco della retina e prolasso della valvola mitrale) e da diverticoli viscerali (ernia inguinale e/o femorale e diverticoli dell'intestino tenue e crasso o della vescica). Alcuni pazienti presentano anche una eventrazione del diaframma. Non sono stati descritti nuovi casi dopo il 1996."},"nl":{"name":"Marfanoïd syndroom, De Silva-type","definition":"Een zeldzame syndromale intestinale malformatie, gekarakteriseerd door de associatie van marfanoïde kenmerken (waaronder marfanoïde habitus, ernstige myopie, netvliesloslating, en mitralisklepprolaps) met viscerale divertikels (hernia inguinalis (liesbreuk) en/of hernia femoralis (dijbreuk), en divertikels van dikke en dunne darm of urineblaas). Sommige patiënten vertoonden ook eventratie van diafragma. Sinds 1996 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Síndrome hábito marfanóide, tipo De Silva"},"pl":{"name":"Zespół marfanoidalny typu De Silva"},"cs":{"name":"Marfanoidní syndrom, De Silvaův typ"},"uk":{"name":"Марфаноїдний синдром, тип Де Сільва","definition":"A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996."},"zh":{"name":"类马方综合征De Silva型"},"tr":{"name":"Marfanoid sendromu, De Silva tipi"}},"xrefs":[{"source":"OMIM","code":"223330","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009120","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4517371","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3401","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108969,"name":"Syndromic intestinal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"13880014[PMID]_8976669[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_13880014[PMID]_8976669[PMID]"}],"phenotypes":null}