{"orpha":2728,"name":"Blepharophimosis-intellectual disability syndrome, Ohdo type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BMRS, Ohdo type","Blepharophimosis syndrome, Ohdo type","Ohdo syndrome","Ohdo-Madokoro-Sonoda syndrome"],"definition":"A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2728/","orphanet_url":"https://www.orpha.net/en/disease/detail/2728","names":{"fr":{"name":"Syndrome de blépharophimosis-déficience intellectuelle type Ohdo","synonyms":["BMRS type Ohdo","Blépharophimosis type Ohdo","Syndrome d'Ohdo"],"definition":"Le syndrome Ohdo-Madokoro-Sonoda est un syndrome de malformations congénitales multiples caractérisé par une blépharophimose, une ptose, une hypoplasie dentaire, une diminution de l'audition et un déficit intellectuel."},"de":{"name":"Blepharophimose-Intelligenzminderung-Syndrom Typ Ohdo","synonyms":["BMRS Typ Ohdo","Blepharophimose-Syndrom Typ Ohdo","Ohdo-Blepharophimose-Syndrom","Ohdo-Madokoro-Sonoda-Syndrom","Ohdo-Syndrom"],"definition":"Das Ohdo-Blepharophimose-Syndrom (OBS) ist ein Syndrom mit multiplen kongenitalen Anomalien und gekennzeichnet durch Blepharophimose, Ptose, hypoplastische Zähne, Hörstörungen und Intelligenzminderung."},"es":{"name":"Síndrome de blefarofimosis-discapacidad intelectual tipo Ohdo","synonyms":["Síndrome de Ohdo","Síndrome de Ohdo-Madokoro-Sonoda","Síndrome de blefarofimosis tipo Ohdo"],"definition":"Es un síndrome por malformaciones congénitas múltiples caracterizado por blefarofimosis, ptosis, hipoplasia dental, discapacidad auditiva y déficit intelectual."},"it":{"name":"Sindrome blefarofimosi-disabilità intellettiva, tipo Ohdo","synonyms":["BMRS, tipo Ohdo","Sindrome da blefarofimosi, tipo Ohdo","Sindrome di Ohdo","Sindrome di Ohdo-Madokoro-Sonoda"]},"nl":{"name":"Blefarofimose - intellectuele achterstand-syndroom, Ohdo-type","synonyms":["BMRS, Ohdo-type","Blefarofimose-syndroom, Ohdo-type","Syndroom van Ohdo","Syndroom van Ohdo-Madokoro-Sonoda"],"definition":"Een syndroom met multipele congenitale malformaties, gekenmerkt door blefarofimose, ptosis, dentale hypoplasie, gehoorstoornis, en intellectuele achterstand."},"pt":{"name":"Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo Ohdo","synonyms":["BMRS, tipo Ohdo","Síndrome Ohdo","Síndrome Ohdo-Madokoro-Sonoda","Síndrome de blefarofimose, tipo Ohdo"],"definition":"A síndrome de blefarofimose de Ohdo (OBS) é uma síndrome de múltiplas malformações congénitas caracterizadas por blefarofimose, ptose, hipoplasia dentária, surdez e atraso mental."},"pl":{"name":"Zespół zwężenia szpary powiekowej i niepełnosprawności intelektualnej typu Ohdo","synonyms":["BMRS, typu Ohdo","Zespół Ohdo","Zespół Ohdo, Madokoro i Sonoda","Zespół zwężenia szpary powiekowej, typ Ohdo","Zespół zwężenia szpar powiekowych - niepełnosprawności intelektualnej typu Ohdo"]},"cs":{"name":"Syndrom zahrnující blefarofimózu a mentální retardaci, Ohdův typ","synonyms":["BMRS, Ohdův typ","Syndrom blefarofimózy, Ohdův typ","Ohdův syndrom","Ohdův-Madokorův-Sonodaův syndrom","Ohdo-Madokoro-Sonodaův syndrom"]},"uk":{"name":"Синдром блефарофімозу-інтелектуальної недостатності, тип Одо","synonyms":["Синдром блефарофімозу, тип Одо","BMRS типу Одо","Синдром Одо","Синдром Одо-Мадокоро-Сонода"],"definition":"A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."},"zh":{"name":"睑裂狭小-智力障碍综合征，Ohdo型","synonyms":["睑裂狭小综合征，Ohdo型"]},"tr":{"name":"Blefarofimoz-zihinsel yetersizlik sendromu, Ohdo tipi","synonyms":["Ohdo sendromu","BMRS, Ohdo tipi","Ohdo-Madokoro-Sonoda sendromu","Blefarofimoz sendromu, Ohdo tipi"]}},"xrefs":[{"source":"OMIM","code":"249620","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"130946618"},{"source":"MONDO","code":"0009583","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536232","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796094","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3348","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":293642,"name":"Blepharophimosis-intellectual disability syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-18","source":"16700052[PMID]_3723552[PMID]_8279489[PMID]","terms":[{"hpo":"HP:0001018","label":"Abnormal palmar dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000685","label":"Hypoplasia of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012619","label":"Multiple bladder diverticula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Frequent (79-30%)","criteria":null}]}}