{"orpha":3239,"name":"Deafness-vitiligo-achalasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hearing loss-vitiligo-achalasia syndrome"],"definition":"A rare otorhinolaryngologic disease characterized by congenital deafness with profound sensorineural hearing loss, short stature, vitiligo, muscle wasting, and achalasia. There have been no further descriptions in the literature since 1971.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3239/","orphanet_url":"https://www.orpha.net/en/disease/detail/3239","names":{"fr":{"name":"Syndrome de surdité-vitiligo-achalasie","definition":"Maladie otorhinolaryngologique rare caractérisée par une surdité congénitale avec perte auditive neurosensorielle profonde, une petite taille, un vitiligo, une fonte musculaire et une achalasie. Aucun nouveau cas n'a été décrit dans la littérature depuis 1971."},"de":{"name":"Schwerhörigkeit-Vitiligo-Achalasie-Syndrom","definition":"Eine seltene otolaryngologische Krankheit, die durch angeborene Taubheit mit hochgradigem sensorineuralem Hörverlust, Kleinwuchs, Vitiligo, Muskelschwund und Achalasie gekennzeichnet ist. Seit 1971 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de sordera-vitíligo-acalasia","synonyms":["Síndrome de hipoacusia-vitíligo-acalasia"],"definition":"Es una enfermedad otorrinolaringológica poco frecuente caracterizada por sordera congénita con hipoacusia neurosensorial profunda, talla baja, vitíligo, atrofia muscular y acalasia. No se han descrito más casos en la literatura desde 1971."},"it":{"name":"Sordità - vitiligine - acalasia"},"nl":{"name":"Doofheid - vitiligo - achalasie-syndroom","synonyms":["Gehoorverlies - vitiligo - achalasie-syndroom"],"definition":"Een zeldzame otorinolaryngologische aandoening, gekenmerkt door congenitale doofheid met zeer ernstig sensorineuraal gehoorverlies, kleine gestalte, vitiligo, spierafbraak, en achalasie. Sinds 1971 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de surdez-vitiligo-acalasia","synonyms":["Síndrome de perda auditiva-vitiligo-acalasia"]},"pl":{"name":"Głuchota - bielactwo nabyte - achalazja","synonyms":["Hearing loss-vitiligo-achalasia syndrome"]},"cs":{"name":"Syndrom zahrnující hluchotu, vitiligo a achalázii","synonyms":["Hearing loss-vitiligo-achalasia syndrome"]},"uk":{"name":"Синдром глухоти-вітіліго-ахалазії","synonyms":["Синдром втрати слуху-вітіліго-ахалазії"],"definition":"Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia."},"zh":{"name":"耳聋-白癜风-失迟缓综合征","synonyms":["听力丧失-白癜风-贲门失弛缓综合征"]},"tr":{"name":"Sağırlık-vitiligo-akalazi sendromu","synonyms":["İşitme kaybı-vitiligo-akalazya sendromu"]}},"xrefs":[{"source":"OMIM","code":"221350","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":"1494422602"},{"source":"MONDO","code":"0009085","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518568","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"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":"5100941[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5100941[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-17","source":null,"terms":[{"hpo":"HP:0002571","label":"Achalasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null}]}}