{"orpha":1068,"name":"Aniridia-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Walker-Dyson syndrome"],"definition":"An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1068/","orphanet_url":"https://www.orpha.net/en/disease/detail/1068","names":{"fr":{"name":"Syndrome d'aniridie-déficience intellectuelle","synonyms":["Syndrome de Walker-Dyson"],"definition":"Le syndrome d'aniridie-déficience intellectuelle est un trouble du développement oculaire extrêmement rare, de transmission autosomique dominante, et décrit chez plusieurs membres d'une même famille. Il se caractérise par un déficit intellectuel modéré associé à une aniridie, une luxation du cristallin, une hypoplasie du nerf optique et des cataractes. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1974."},"de":{"name":"Aniridie-Intelligenzminderung-Syndrom","synonyms":["Walker-Dyson-Syndrom"]},"es":{"name":"Síndrome de aniridia-discapacidad intelectual","synonyms":["Síndrome de Walker-Dyson"],"definition":"Es un defecto del desarrollo ocular autosómico dominante extremadamente infrecuente, descrito en varios miembros de una misma familia, caracterizado por la asociación de discapacidad intelectual moderada con aniridia, luxación del cristalino, hipoplasia del nervio óptico y cataratas. No ha habido más casos descritos en la literatura desde 1974."},"it":{"name":"Sindrome aniridia-disabilità cognitiva","synonyms":["Sindrome di Walker-Dyson"]},"nl":{"name":"Aniridie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Walker-Dyson"],"definition":"Een uiterst zeldzaam, autosomaal dominant ontwikkelingsdefect van het oog dat werd beschreven bij verschillende leden van één familie, en dat gekarakteriseerd wordt door de associatie van matige intellectuele achterstand met aniridie, lensluxatie, opticushypoplasie en cataract. Sinds 1974 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de aniridia-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Walker-Dyson"]},"pl":{"name":"Zespół aniridii i niepełnosprawności intelektualnej","synonyms":["Zespół Walkera i Dysona"]},"cs":{"name":"Syndrom zahrnující aniridii a mentální retardaci","synonyms":["Walkerův-Dysonův syndrom","Walker-Dysonův syndrom"]},"uk":{"name":"Синдром аніридії - інтелектуальної недостатності","synonyms":["Синдром Вокера-Дайсона"],"definition":"An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974."},"zh":{"name":"无虹膜-智力障碍综合征","synonyms":["Walker-Dyson综合征"]},"tr":{"name":"Aniridi-zihinsel yetersizlik sendromu","synonyms":["Walker-Dyson sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q13.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015199","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536568","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931243","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5530","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98557,"name":"Syndromic aniridia","classifications":[147,156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4422267[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4422267[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000526","label":"Aniridia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very frequent (99-80%)","criteria":null}]}}