{"orpha":1188,"name":"Ataxia-deafness-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Ataxia-hearing loss-intellectual disability syndrome","Reardon-Baraitser syndrome"],"definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1188/","orphanet_url":"https://www.orpha.net/en/disease/detail/1188","names":{"fr":{"name":"Syndrome d'ataxie-surdité-déficience intellectuelle","synonyms":["Syndrome de Reardon-Baraitser"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard global de développement, une déficience intellectuelle, une ataxie progressive apparaissant dans la petite enfance ou l'enfance et une perte auditive neurosensorielle bilatérale. Parmi les caractéristiques variables figurent des signes de maladie des motoneurones supérieurs et inférieurs, une neuropathie périphérique, un faciès myopathique, une fonte musculaire des membres inférieurs et des contractures du talon. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Ataxie-Schwerhörigkeit-Intelligenzminderung-Syndrom","synonyms":["Ataxie-Hörverlust-Intelligenzminderung-Syndrom","Reardon-Baraitser-Syndrom"],"definition":"Eine seltene syndromale Form der Intelligenzminderung, die durch globale Entwicklungsverzögerung, Intelligenzminderung, eine im Säuglings- oder Kindesalter einsetzende progrediente Ataxie und beidseitige sensorineurale Schwerhörigkeit gekennzeichnet ist. Zu den variablen Merkmalen gehören Anzeichen einer Erkrankung der oberen und unteren Motoneuronen, periphere Neuropathie, myopathisches Gesicht, Muskelschwund der unteren Gliedmaßen und Fersenkontrakturen. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ataxia-sordera-discapacidad intelectual","synonyms":["Síndrome de Reardon-Baraitser","Síndrome de ataxia-hipoacusia-discapacidad intelectual"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por retraso global del desarrollo, discapacidad intelectual, ataxia progresiva de inicio en la lactancia o en la infancia, y discapacidad auditiva neurosensorial bilateral. Otros rasgos variables incluyen signos de enfermedad de la motoneurona superior e inferior, neuropatía periférica, facies miopática, atrofia muscular de las extremidades inferiores y contracturas aquileas. No ha habido más descripciones en la literatura desde 1993."},"it":{"name":"Sindrome atassia-sordità-disabilità cognitiva","synonyms":["Sindrome di Reardon-Baraitser"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, atassia progressiva ad esordio nella prima infanzia o nell'infanzia, e sordità neurosensoriale bilaterale. I segni clinici comprendono i sintomi della malattia dei motoneuroni superiori e inferiori, la neuropatia periferica, la facies miopatica, l'atrofia muscolare degli arti inferiori e le contratture del tallone. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Ataxie - doofheid - intellectuele achterstand-syndroom","synonyms":["Ataxie - gehoorverlies - intellectuele achterstand-syndroom","Syndroom van Reardon-Baraitser"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekenmerkt door algehele ontwikkelingsachterstand, intellectuele achterstand, infantiele of in de kindertijd optredende progressieve ataxie, en bilateraal sensorineuraal gehoorverlies. Variabele kenmerken zijn onder meer verschijnselen of hogere en lagere motorneuronziekte, perifere neuropathie, myopathisch aangezicht, atrofie van spieren van onderste ledematen, en contracturen van hiel. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ataxia-surdez-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Reardon-Baraitser","Síndrome de ataxia-perda auditiva-perturbação do desenvolvimento"]},"pl":{"name":"Zespół ataksji, głuchoty i niepełnosprawności intelektualnej","synonyms":["Zespół Reardona i Baraitsera"]},"cs":{"name":"Syndrom zahrnující ataxii, hluchotu a mentální retardaci","synonyms":["Reardonův-Baraitserův syndrom","Reardon-Baraitserův syndrom"]},"uk":{"name":"Синдром атаксії-глухоти-інтелектуальної недостатності","synonyms":["Синдром атаксії-втрати слуху-інтелектуальної недостатності","Синдром Ріардона-Барайзера"],"definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993."},"zh":{"name":"共济失调-耳聋-智力障碍综合征","synonyms":["Reardon-Baraitser综合征"]},"tr":{"name":"Ataksi-sağırlık-zihinsel yetersizlik sendromu","synonyms":["Ataksi-işitme kaybı-zihinsel yetersizlik sendromu","Reardon-Baraitser sendromu"]}},"xrefs":[{"source":"OMIM","code":"208850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2133046984"},{"source":"MONDO","code":"0008838","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304023","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4644","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"4728186[PMID]_3470627[PMID]_8411058[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4728186[PMID]_3470627[PMID]_8411058[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null}]}}