{"orpha":3167,"name":"Siegler-Brewer-Carey syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3167/","orphanet_url":"https://www.orpha.net/en/disease/detail/3167","names":{"fr":{"name":"Syndrome de Siegler-Brewer-Carey","definition":"Maladie respiratoire génétique, syndromique, rare caractérisée par des cataractes, des otites moyennes, une malabsorption intestinale, des infections respiratoires chroniques et un retard de croissance. Des épisodes récurrents de pneumonie et une azotémie progressive, entraînant une insuffisance rénale terminale et le décès prématuré du patient, ont également été rapportés. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Siegler-Brewer-Carey-Syndrom","definition":"Eine seltene, syndromale, genetisch bedingte Atemwegserkrankung, die durch Katarakte, Otitis media, intestinale Malabsorption, chronische Atemwegsinfektionen und Gedeihstörung gekennzeichnet ist. Zusätzlich werden rezidivierende Lungenentzündungen und eine progressive Azotämie beobachtet, die zu einem terminalen Nierenversagen und frühen Tod führt. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Siegler-Brewer-Carey","definition":"Es una enfermedad respiratoria sindrómica poco frecuente, de origen genético, caracterizada por la presencia de cataratas, otitis media, malabsorción intestinal, infecciones respiratorias crónicas y fallo de medro. También se observa neumonía recurrente y azotemia progresiva, que evoluciona a enfermedad renal terminal y muerte prematura. No ha habido más descripciones en la literatura desde 1992."},"it":{"name":"Sindrome di Siegler-Brewer-Carey","definition":"Si tratta di una malattia respiratoria sindromica rara, di origine genetica, caratterizzata da cataratta, otite media, malassorbimento intestinale, infezioni respiratorie croniche e ritardo della crescita. Si associa a polmonite ricorrente e iperazotemia progressiva, che esita nella malattia renale terminale e nella morte precoce. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Syndroom van Siegler-Brewer-Carey","definition":"Een zeldzame, syndromale, genetische respiratoire ziekte gekarakteriseerd door cataracten, middenoorontsteking, intestinale malabsorptie, chronische respiratoire infecties, en groeiachterstand. Recurrente pneumonie en progressieve azotemie, die leiden tot eindstadium nierziekte en vroegtijdig overlijden, worden bijkomend waargenomen. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Siegler-Brewer-Carey"},"pl":{"name":"Zespół Sieglera, Brewera i Carey'a"},"cs":{"name":"Sieglerův-Brewerův-Careyho syndrom","synonyms":["Siegler-Brewer-Careyho syndrom"]},"uk":{"name":"Синдром Зіглера-Брюера-Кері","definition":"A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992."},"zh":{"name":"Siegler-Brewer-Carey综合征"},"tr":{"name":"Siegler-Brewer-Carey sendromu"}},"xrefs":[{"source":"ICD-10","code":"J98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB40.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017849","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537335","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931473","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4867","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1442888[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1442888[PMID]"}],"phenotypes":null}