{"orpha":2408,"name":"Lowe-Kohn-Cohen syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Deafness-nephritis-ano-rectal malformation syndrome","Hearing loss-nephritis-ano-rectal malformation syndrome"],"definition":"Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2408/","orphanet_url":"https://www.orpha.net/en/disease/detail/2408","names":{"fr":{"name":"Syndrome de Lowe-Kohn-Cohen","synonyms":["Syndrome de surdité-néphrite-malformation anorectale"],"definition":"Syndrome rare de malformation anorectale caractérisé par un anus imperforé, une fistule ano-périnéale fermée, un appendice pré-auriculaire, en l'absence d'anomalies rénales et de déformations pré-axiales des membres. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Lowe-Kohn-Cohen-Syndrom","synonyms":["Taubheit - Nephritis - ano-rektale Fehlbildung"],"definition":"Das Lowe-Kohn-Cohen-Syndrom ist ein extrem seltenes anorektales Fehlbildungssyndrom, das durch Analatresie, geschlossene ano-perineale Fistel, präaurikuläre Hautanhängsel und präaxiale Gliedmaßendeformitäten ohne begleitende Nierenanomalien gekennzeichnet ist. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Lowe Kohn Cohen","synonyms":["Síndrome de hipoacusia-nefritis-malformación anorrectal","Síndrome de sordera-nefritis-malformación anorrectal"],"definition":"Es un síndrome malformativo anorrectal extremadamente poco frecuente caracterizado por ano imperforado, fístula ano-perineal cerrada, apéndices preauriculares y ausencia de anomalías renales y malformaciones preaxiales de las extremidades. No ha habido más casos descritos en la literatura desde 1983."},"it":{"name":"Sindrome di Lowe-Kohn-Cohen","synonyms":["Sordità - nefrite - malformazione anorettale"],"definition":"La sindrome di Lowe-Kohn-Cohen è una malformazione anorettale molto rara, caratterizzata da ano imperforato, fistola chiusa ano-perineale e appendici cutanee preauricolari, in assenza di anomalie renali e deformità della porzione pre-assiale degli arti. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Syndroom van Lowe-Kohn-Cohen","synonyms":["Doofheid - nefritis - anorectale malformatie-syndroom"],"definition":"Syndroom van Lowe-Kohn-Cohen is een uiterst zeldzaam anorectaal malformatiesyndroom dat gekarakteriseerd wordt door anusatresie, gesloten ano-perineale fistel, pre-auriculair aanhangsel en afwezigheid van nierafwijkingen en pre-axiale misvormingen van ledematen. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Lowe-Kohn-Cohen","synonyms":["Síndrome de surdez-nefrite-malformação ano-rectal"]},"pl":{"name":"Zespół Lowego,Kohna i Cohena","synonyms":["Głuchota - zapalenie nerek - malformacja odbytu i odbytnicy"]},"cs":{"name":"Loweho-Kohnův-Cohenův syndrom","synonyms":["Syndrom zahrnující hluchotu, nefritidu a anorektální malformaci","Lowe-Kohn-Cohenův syndrom"]},"uk":{"name":"Синдром Лоу-Кона-Коена","synonyms":["Синдром глухоти-нефриту-аноректальної мальформації","Синдром втрати слуху - нефриту - аноректальної мальформації"],"definition":"Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983."},"zh":{"name":"Lowe-Kohn-Cohen综合征","synonyms":["听力损失-肾炎-肛-直肠畸形综合征"]},"tr":{"name":"Lowe-Kohn-Cohen sendromu","synonyms":["Sağırlık-nefrit-ano-rektal malformasyon sendromu","İşitme kaybı-nefrit-ano-rektal malformasyon sendromu"]}},"xrefs":[{"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":"2061193977"},{"source":"MONDO","code":"0016568","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707726","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1695","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":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"6627722[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6627722[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null}]}}