{"orpha":2186,"name":"Hydrocephalus-blue sclerae-nephropathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Daentl-Townsend-Siegel syndrome"],"definition":"A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2186/","orphanet_url":"https://www.orpha.net/en/disease/detail/2186","names":{"fr":{"name":"Syndrome d'hydrocéphalie-sclérotiques bleues-néphropathie","synonyms":["Syndrome de Daentl-Townsend-Siegel"],"definition":"Syndrome de malformation rénale rare d'origine génétique caractérisé par un syndrome néphrotique avec sclérose segmentaire focale associé à une hydrocéphalie, une peau fine et des sclérotiques bleues. Aucun cas n'a été décrit dans la littérature depuis 1978."},"de":{"name":"Hydrozephalus-blaue Sklera-Nephropathie-Syndrom","synonyms":["Daentl-Townsend-Siegel-Syndrom"],"definition":"Eine genetisch bedingte syndromale Nierenfehlbildung, die durch ein nephrotisches Syndrom mit fokaler segmentaler Sklerose in Verbindung mit Hydrozephalus, dünner Haut und blauen Skleren gekennzeichnet ist. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hidrocefalia-escleróticas azules-nefropatía","synonyms":["Síndrome de Daentl-Townsend-Siegel"],"definition":"Es un síndrome de malformación renal o del tracto urinario, genético y poco frecuente, caracterizado por síndrome nefrótico con esclerosis focal y segmentaria, asociada a hidrocefalia, piel delgada y esclerótica azul. No ha habido más casos descritos en la literatura desde 1978."},"it":{"name":"Sindrome idrocefalo, sclere blu e nefropatia","synonyms":["Sindrome di Daentl-Townsend-Siegel"],"definition":"La sindrome che associa l'idrocefalo, le sclere blu e la nefropatia è una malformazione genetica rara dei reni o delle vie urinarie, caratterizzata dalla sindrome nefrosica con sclerosi focale segmentaria, associata all'idrocefalo, all'assottigliamento della cute e alle sclere blu. Non sono stati descritti nuovi casi dopo il 1978."},"nl":{"name":"Hydrocefalus - blauwe sclerae - nefropathie-syndroom","synonyms":["Syndroom van Daentl-Townsend-Siegel"],"definition":"Een zeldzaam, genetisch malformatiesyndroom van nier, gekenmerkt door nefrotisch syndroom met focale segmentale sclerose geassocieerd met hydrocefalie, dunne huid en blauwe sclerae. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hidrocefalia-escleróticas azuis-nefropatia","synonyms":["Síndrome Daentl-Townsend-Siegel"]},"pl":{"name":"Wodogłowie - niebieska twardówka - nefropatia","synonyms":["Zespół Daentla, Townsenda i Siegela"],"definition":"Rzadki, genetycznie uwarunkowany zespół wad wrodzonych nerek, który charakteryzuje się zespołem nerczycowym z ogniskowym segmentalnym stwardnieniem, z towarzyszącym wodogłowiem, ścieńczeniem skóry i niebieskim zabarwieniem twardówek. Od 1978 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující hydrocefalus, modré skléry a nefropatii","synonyms":["Daentlův-Townsendův-Siegelův syndrom","Daentl-Townsend-Siegelův syndrom"]},"uk":{"name":"Синдром гідроцефалії-блакитних склер-нефропатії","synonyms":["Синдром Дантля-Таунсенда-Зігеля"],"definition":"A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978."},"zh":{"name":"脑积水-蓝巩膜-肾病综合征","synonyms":["Daentl-Townsend-Siegel综合征"]},"tr":{"name":"Hidrosefali-mavi sklera-nefropati sendromu","synonyms":["Daentl-Townsend-Siegel sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016350","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750751","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"236","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"728573[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_728573[PMID]"}],"phenotypes":null}