{"orpha":2838,"name":"Renal caliceal diverticuli-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Renal caliceal diverticuli-hearing loss syndrome"],"definition":"A rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2838/","orphanet_url":"https://www.orpha.net/en/disease/detail/2838","names":{"fr":{"name":"Syndrome de dysmorphie rénale pelvi-calicielle-surdité","definition":"Anomalie syndromique rare du développement embryonnaire caractérisée par des anomalies des voies urinaires et des reins, telles qu'une atténuation rénale pelvi-calicielle et de multiples petits diverticules caliciels, en association avec une surdité neurosensorielle. Aucun cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Nierenkelchdivertikel - Taubheit"},"es":{"name":"Síndrome de diverticulitis calicial renal-sordera","synonyms":["Síndrome de diverticulitis calicial renal-hipoacusia"],"definition":"Es un defecto del desarrollo embrionario, sindrómico y poco frecuente, caracterizado por anomalías renales y del tracto urinario, tales como atenuación pielocalicial renal con múltiples divertículos caliciales diminutos, asociado a pérdida auditiva neurosensorial. No ha habido más casos descritos en la literatura desde 1981."},"it":{"name":"Sindrome da diverticoli dei calici renali e sordità","definition":"La sindrome che associa i diverticoli dei calici renali alla sordità è una malattia malformativa sindromica rara, causata da un difetto di sviluppo dell'embrione, caratterizzata da anomalie delle vie urinarie e dei reni, come i difetti della regione pelvico-caliceale con piccoli diverticoli multipli nei calici, associati alla sordità neurosensoriale. Non sono stati descritti nuovi casi dopi il 1981."},"nl":{"name":"Nierkelkdivertikel - doofheid-syndroom","definition":"Nierkelkdivertikel - doofheid-syndroom is een zeldzaam, syndromaal ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door anomalieën van het urinewegstelsel en de nieren, zoals verzwakking van het nierbekken-kelkensysteem met multipele kleine nierkelkdivertikels, geassocieerd met sensorineuraal gehoorverlies. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de divertículos renais caliciais-surdez","synonyms":["Síndrome de divertículos renais caliciais-perda auditiva"]},"pl":{"name":"Zespół uchyłków kielicha nerkowego i głuchoty","synonyms":["Renal caliceal diverticuli-hearing loss syndrome"],"definition":"*Zespół uchyłków kielicha nerkowego i głuchoty jest rzadką, syndromiczną wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się wadami układu moczowego i nerek, takimi jak poszerzenie układu kielichowo-miedniczkowo z licznymi drobnymi uchyłkami kielichów, którym towarzyszy niedosłuch czuciowo-nerwowego. Od 1981 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující divertikly renálních kalichů a hluchotu","synonyms":["Renal caliceal diverticuli-hearing loss syndrome"]},"uk":{"name":"Синдром ниркових чашечкових дивертикулів-глухоти","synonyms":["Синдром дивертикули ниркових чашечок - втрати слуху"],"definition":"A rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981."},"zh":{"name":"肾盏憩室炎-耳聋综合征","synonyms":["肾盏憩室-听力丧失综合征"]},"tr":{"name":"Renal kaliseal divertikül-sağırlık sendromu","synonyms":["Renal kaliks divertikülü-işitme kaybı sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q64.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190738","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4655","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"6785452[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6785452[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-11","source":null,"terms":[{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null}]}}