{"orpha":2669,"name":"Nephrosis-deafness-urinary tract-digital malformations syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Braun-Bayer syndrome","Nephrosis-hearing loss-urinary tract-digital malformations syndrome"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2669/","orphanet_url":"https://www.orpha.net/en/disease/detail/2669","names":{"fr":{"name":"Syndrome de néphrose-surdité-anomalies des voies urinaires et des doigts","synonyms":["Syndrome de Braun-Bayer"],"definition":"Anomalies congénitales multiples rares, d'origine génétique, caractérisées par des malformations des voies urinaires, une néphrose, une surdité de transmission et des malformations digitales, dont des pouces et des gros orteils aux phalanges distales bifides et courtes. Aucun cas n'a été décrit dans la littérature depuis 1962."},"de":{"name":"Nephrose-Schwerhörigkeit-Harnwegsanomalien-Fingerfehlbildungen-Syndrom","synonyms":["Braun-Bayer-Syndrom"],"definition":"Ein seltenes, genetisch bedingtes Syndrom, das durch multiple kongenitalen Anomalien, inkl. Harnwegsanomalien, Nephrose, Schallleitungsschwerhörigkeit und digitale Fehlbildungen (kurze und bifide distale Phalangen von Daumen und Großzehen) gekennzeichnet ist. Seit 1962 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de nefrosis-sordera-malformaciones del tracto urinario y digitales","synonyms":["Síndrome de Braun-Bayer","Síndrome de nefrosis-hipoacusia-malformaciones del tracto urinario y digitales"],"definition":"Es un síndrome de múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por anomalías del tracto urinario, nefrosis, sordera conductiva y malformaciones de los dedos de las manos, incluyendo pulgares y primeros dedos del pie con falanges distales bífidas y acortadas. No ha habido más casos descritos en la literatura desde 1962."},"it":{"name":"Sindrome da nefrosi-sordità-malaformazioni delle vie urinarie e delle dita","synonyms":["Sindrome di Braun-Bayer"],"definition":"Si tratta di una malattia genetica rara da anomalie congenite multiple, caratterizzata da anomalie delle vie urinarie, nefrosi, sordità di conduzione e malformazioni delle dita (falangi distali dei pollici e degli alluci corte e bifide). Non sono stati descritti nuovi casi dopo il 1962."},"nl":{"name":"Nefrose - doofheid - urineweg - digitale misvormingen-syndroom","synonyms":["Syndroom van Braun-Bayer"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekarakteriseerd door anomalieën van het urinewegstelsel, nefrose, conductieve doofheid, en malformatie van vingers/tenen, waaronder korte en bifide distale falangen van duimen en grote tenen. Sinds 1962 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de nefrose-surdez-malformações do tracto urinário e digitais","synonyms":["Síndrome Braun-Bayer"]},"pl":{"name":"Nefroza - głuchota - wady układu moczowego i palców","synonyms":["Zespół Brauna i Bayera"]},"cs":{"name":"Syndrom zahrnující nefrózu, hluchotu, malformace močového traktu a prstů","synonyms":["Braunův-Bayerův syndrom","Braun-Bayerův syndrom"]},"uk":{"name":"Синдром нефрозу-глухоти-сечовивідних шляхів-вад розвитку пальців","synonyms":["Синдром Брауна-Байєра","Синдром нефрозу - втратиа слуху - сечовивіднихі шляхів - вад розвитку пальців"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962."},"zh":{"name":"肾病-耳聋-泌尿道-手指畸形综合征","synonyms":["Braun-Bayer 综合征"]},"tr":{"name":"Nefroz-sağırlık-idrar yolu-dijital malformasyon sendromu","synonyms":["Nefroz-işitme kaybı-idrar yolu-dijital malformasyon sendromu","Braun-Bayer sendromu"]}},"xrefs":[{"source":"OMIM","code":"256200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1641858563"},{"source":"MONDO","code":"0009731","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536402","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510366","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"13872585[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_13872585[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-30","source":"13872585[PMID]","terms":[{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009611","label":"Bifid distal phalanx of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008071","label":"Maternal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010097","label":"Partial duplication of the distal phalanx of the hallux","frequency":"Frequent (79-30%)","criteria":null}]}}