{"orpha":2743,"name":"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Levic-Stefanovic-Nikolic syndrome"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2743/","orphanet_url":"https://www.orpha.net/en/disease/detail/2743","names":{"fr":{"name":"Syndrome d'ophtalmoplégie-déficience intellectuelle-langue scrotale","synonyms":["Syndrome de Levic-Stefanovic-Nikolic"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique, caractérisée par une ophtalmoplégie nucléaire externe congénitale, une langue scrotale, une sclérose choriorétinienne progressive et une déficience intellectuelle. Un ptosis bilatéral, une faiblesse faciale bilatérale, un syndrome de Parinaud, une paralysie de la convergence et une myopie peuvent être associés. Aucun cas n'a été décrit dans la littérature depuis 1975."},"de":{"name":"Ophthalmoplegie-Intelligenzminderung-Lingua scrotalis-Syndrom","synonyms":["Levic-Stefanovic-Nicolic-Syndrom"]},"es":{"name":"Síndrome de oftalmoplejía-discapacidad intelectual-lengua escrotal","synonyms":["Síndrome de Levic-Stefanovic-Nikolic"],"definition":"El síndrome de oftalmoplejía - discapacidad intelectual - lengua escrotal es un trastorno de discapacidad intelectual sindrómico, genético y poco frecuente, caracterizado por oftalmoplejía nuclear congénita externa, lengua fisurada, esclerosis coriorretiniana progresiva y discapacidad intelectual. Pueden estar asociadas ptosis bilateral, debilidad facial bilateral, síndrome de Parinaud, parálisis de convergencia y miopía. No ha habido más casos descritos en la literatura desde 1975."},"it":{"name":"Sindrome da oftalmoplegia, disabilità intellettiva e lingua scrotale","synonyms":["Sindrome di Levic-Stefanovic-Nikolic"],"definition":"La sindrome che associa l'oftalmoplegia, la disabilità intellettiva e la lingua scrotale è una malattia genetica rara da disabilità intellettiva, caratterizzata da oftalmoplegia nucleare esterna congenita, lingua scrotale, sclerosi corioretinica progressiva e disabilità intellettiva. Può associarsi a ptosi bilaterale, debolezza facciale bilaterale, sindrome di Parinaud, paresi della convergenza e miopia. Non sono stati descritti nuovi casi dopo il 1975."},"nl":{"name":"Oftalmoplegie - intellectuele achterstand - lingua scrotalis-syndroom","synonyms":["Syndroom van Levic-Stefanovic-Nikolic"],"definition":"Oftalmoplegie - intellectuele achterstand - lingua scrotalis-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door congenitale, externe, nucleaire oftalmoplegie, lingua scrotalis, progressieve chorioretinale sclerose en intellectuele achterstand. Bilaterale ptose, bilaterale gezichtszwakte, syndroom van Parinaud, convergentieparese en myopie kunnen geassocieerd zijn. Sinds 1975 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de oftalmoplegia-perturbação do desenvolvimento intelectual-língua scrotalis","synonyms":["Síndrome Levic-Stefanovic-Nikolic"]},"pl":{"name":"Oftalmoplegia - niepełnosprawność intelektualna - język pobrużdżony","synonyms":["Zespół Levica, Stefanovica i Nikolica"],"definition":"*Oftalmoplegia - niepełnosprawność intelektualna - język pobrużdżony jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się wrodzoną, zewnętrzną oftalmoplegią, pobrużdżonym językiem, postępującym stwardnieniem naczyniówki i siatkówki oraz niepełnosprawnością intelektualną. Towarzyszyć może obustronne opadanie powiek, obustronne osłabienie mięśni twarzy, zespół Parinauda (nieprawidłowa ruchomość gałek ocznych, zaburzona funkcja źrenic), porażenie konwergencji i krótkowzroczność. Od 1975 roku w literaturze nie ma nowych opisów.inf brsup"},"cs":{"name":"Syndrom zahrnující oftalmoplegii, mentální retardaci a zbrázděný jazyk","synonyms":["Levičův-Stefanovičův-Nikoličův syndrom","Levič-Stefanovič-Nikoličův syndrom"]},"uk":{"name":"Синдром офтальмоплегії-інтелектуальної недостатності-складчастого язика","synonyms":["Синдром Левіка-Стефановича-Ніколя"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975."},"zh":{"name":"眼肌麻痹-智力障碍-皱襞舌综合征","synonyms":["Levic-Stefanovic-Nikolic综合征"]},"tr":{"name":"Oftalmopleji-zihinsel yetersizlik-lingua skrotalis sendromu","synonyms":["Levic-Stefanovic-Nikolic sendromu"]}},"xrefs":[{"source":"OMIM","code":"165150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H51.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190740","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3236","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":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"1167409[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1167409[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-07","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null}]}}