{"orpha":1064,"name":"Aniridia-renal agenesis-psychomotor retardation syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Sommer-Rathbun-Battles syndrome"],"definition":"An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1064/","orphanet_url":"https://www.orpha.net/en/disease/detail/1064","names":{"fr":{"name":"Syndrome d'aniridie-agénésie rénale-retard psychomoteur","definition":"Le syndrome d'aniridie-agénésie rénale-retard psychomoteur est un syndrome extrêmement rare rapporté chez deux frères et soeurs issus de parents non consanguins. Il se caractérise par l'association d'anomalies oculaires (aniridie partielle, glaucome congénital, télécanthus), d'une bosse frontale, d'un hypertélorisme, d'une agénésie rénale unilatérale et d'un léger retard psychomoteur. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1974."},"de":{"name":"Aniridie-Nierenagenesie-psychomotorische Retardierung-Syndrom","synonyms":["Sommer-Rathbun-Battles-Syndrom"]},"es":{"name":"Síndrome de aniridia-agenesia renal-retraso psicomotor","synonyms":["Síndrome de Sommer-Rathbun-Battles"],"definition":"Es un síndrome extremadamente poco frecuente, descrito en dos hermanos de padres no consanguíneos, caracterizado por la asociación de anomalías oculares (aniridia parcial, glaucoma congénito, telecanto) con frente prominente, hipertelorismo, agenesia renal unilateral y leve retraso psicomotor. No ha habido más casos descritos en la literatura desde 1974."},"it":{"name":"Aniridia - agenesia renale - ritardo psicomotorio","synonyms":["Sindrome di Sommer-Rathbun-Battles"]},"nl":{"name":"Aniridie - renale agenesie - psychomotorische retardatie-syndroom","synonyms":["Syndroom van Sommer-Rathbun-Battles"],"definition":"Een uiterst zeldzaam syndroom dat gerapporteerd werd bij twee broers/zussen van niet-bloedverwante ouders, en dat gekarakteriseerd wordt door de associatie van oogafwijkingen (partiële aniridie, congenitaal glaucoom, telecanthus) met boller voorhoofd, hypertelorisme, unilaterale agenesie van nier, en milde psychomotorische achterstand. Sinds 1974 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de aniridia-agenesia renal-perturbação psicomotora"},"pl":{"name":"Aniridia - agnezja nerki - opóźnienie psycho-ruchowe","synonyms":["Zespół Sommera, Rathbuna i Battlesa"]},"cs":{"name":"Syndrom zahrnující aniridii, renální agenezi a psychomotorickou retardaci","synonyms":["Sommerův-Rathbunův-Battlesův syndrom","Sommer-Rathbun-Battlesův syndrom"]},"uk":{"name":"Синдром аніридії - ниркової агенезії - психомоторної затримки","synonyms":["Синдром Зоммера-Ратбуна-Баттлса"],"definition":"An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974."},"zh":{"name":"无虹膜-肾缺如-精神运动发育迟缓综合征","synonyms":["Sommer-Rathbun-Battles综合征"]},"tr":{"name":"Aniridi-renal agenezi-psikomotor gerilik sendromu","synonyms":["Sommer-Rathbun-Battles sendromu"]}},"xrefs":[{"source":"OMIM","code":"206750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008796","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536371","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518585","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"690","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":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":98557,"name":"Syndromic aniridia","classifications":[147,156,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4419812[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4419812[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:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null}]}}