{"orpha":126,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BPES"],"definition":"A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-126/","orphanet_url":"https://www.orpha.net/en/disease/detail/126","names":{"fr":{"name":"Syndrome de blépharophimosis-ptosis-épicanthus inversus","synonyms":["BPES"],"definition":"Maladie ophtalmique rare qui se caractérise par l'association d'un blépharophimosis, d'un ptosis, d'un épicanthus inversus et d'un télécanthus, qui peut s'accompagner d'une insuffisance ovarienne prématurée (IOP) (type I) ou apparaître de manière isolée (type II)."},"de":{"name":"Blepharophimose-Ptosis-Epicanthus inversus-Syndrom","synonyms":["BPES"],"definition":"Eine seltene angeborene Augenerkrankung, die durch das Aufeinandertreffen von Blepharophimose, Ptosis, Epicanthus inversus und Telekanthus gekennzeichnet ist und in Verbindung mit (Typ 1) oder ohne primäre Ovarialinsuffizienz (POI; Typ 2) auftreten kann."},"es":{"name":"Síndrome de blefarofimosis-ptosis-epicanto inverso","definition":"Es un trastorno oftalmológico poco frecuente caracterizado por blefarofimosis, ptosis, epicanto inverso y telecanto, pudiendo estar asociado, o no, a insuficiencia ovárica primaria (IOP), tipo 1 y tipo 2, respectivamente."},"it":{"name":"Sindrome blefarofimosi-ptosi-epicanto inverso","synonyms":["Blefarofimosi, tipi 1 e 2"],"definition":"La sindrome blefarofimosi-ptosi-epicanto inverso (BPES) è una malattia oculare rara, caratterizzata da blefarofimosi, ptosi, epicanto inverso e telecanto, con (BPES tipo 1) o senza (BPES tipo 2) insufficienza ovarica primitiva."},"nl":{"name":"Blefarofimose - ptose - epicanthus inversus-syndroom","synonyms":["BPES"],"definition":"Een zeldzame oftalmische aandoening, gekarakteriseerd door blefarofimose, ptose, epicanthus inversus, en telecanthus, geassocieerd met (type 1) of zonder primair ovariumfalen (POI; type 2)."},"pt":{"name":"Síndrome de blefarofimose-ptose-epicanto inverso","synonyms":["Blefarofimose tipos 1 e 2"]},"pl":{"name":"Zwężenie szpar powiekowych-zmarszczka nakątna - opadanie powiek","synonyms":["Zwężenie szpar powiekowych typu 1 i 2"]},"cs":{"name":"Syndrom zahrnující blefarofimózu, inverzní epikant a ptózu","synonyms":["Blefarofimóza, typy 1 a 2"]},"uk":{"name":"Синдром блефарофімозу-птозу-зворотного епікантусу","synonyms":["BPES"],"definition":"A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2)."},"zh":{"name":"睑裂狭小-上睑下垂-倒转型内眦赘皮综合征","synonyms":["BPES"]},"tr":{"name":"Blefarofimoz-pitoz-epikantus inversus sendromu","synonyms":["BPES"]}},"xrefs":[{"source":"OMIM","code":"110100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1374618555"},{"source":"MONDO","code":"0007201","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562419","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220663","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081258","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":261559,"name":"OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome","status":"inactive"},{"type":"Referred to","orpha":261572,"name":"OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome","status":"inactive"},{"type":"Referred to","orpha":261579,"name":"OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":98575,"name":"Syndromic telecanthus","classifications":[147,156,189]}],"children":[{"orpha":572354,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome type 1","type":"Clinical subtype"},{"orpha":572361,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FOXL2","name":"forkhead box L2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30029625[PMID]_31823134[PMID]","hgnc":"1092","ensembl":"ENSG00000183770","omim":"605597","loci":["3q22.3"],"via":{"orpha":572354,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"}},{"symbol":"FOXL2","name":"forkhead box L2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30029625[PMID]_31823134[PMID]","hgnc":"1092","ensembl":"ENSG00000183770","omim":"605597","loci":["3q22.3"],"via":{"orpha":572361,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome type 2"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011481","label":"Abnormal lacrimal duct morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null}]}}