{"orpha":1259,"name":"Blepharoptosis-myopia-ectopia lentis syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1259/","orphanet_url":"https://www.orpha.net/en/disease/detail/1259","names":{"fr":{"name":"Syndrome de blépharoptosis-myopie-ectopie du cristallin","definition":"Ce syndrome est caractérisé par une blépharoptose congénitale, une ectopie du cristallin et une forte myopie."},"de":{"name":"Blepharoptose-Myopie-Ectopia lentis-Syndrom","definition":"Eine genetisch bedingte Augenerkrankung mit Anomalien der Linsenposition, die durch beidseitige angeborene Blepharoptose, Ectopia lentis und hochgradige Myopie gekennzeichnet ist. Zu den weiteren berichteten Symptomen gehören ungewöhnlich lange Augäpfel und Anzeichen einer Levatoraponeurose-Dislokation. Seit 1982 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de blefaroptosis-miopía-ectopia lentis","definition":"Es una anomalía poco frecuente de origen genético de la posición del cristalino que está caracterizada por blefaroptosis congénita bilateral, ectopia del cristalino y alta miopía. Otras manifestaciones descritas incluyen globo ocular anormalmente largo y signos de desinserción de la aponeurosis del elevador. No ha habido más descripciones en la literatura desde 1982."},"it":{"name":"Blefaroptosi - miopia - ectopia del cristallino"},"nl":{"name":"Blefaroptose - myopie - ectopia lentis-syndroom","definition":"Een zeldzame, genetische aandoening met abnormale positie van lens, gekenmerkt door bilaterale congenitale blefaroptose, ectopia lentis, en hooggradige myopie. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer abnormaal lange oogbol en verschijnselen van desinsertie van aponeurose van musculus levator palpebrae. Sinds 1982 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de blefaroptose-miopia-ectopia do cristalino"},"pl":{"name":"Opadanie powiek- miopia - przemieszczenie soczewki"},"cs":{"name":"Syndrom zahrnující blefaroptózu, myopii a ektopia lentis"},"uk":{"name":"Синдром блефароптозу-міопії-ектопії","definition":"A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982."},"zh":{"name":"眼睑松弛-近视-晶状体异位综合征"},"tr":{"name":"Blefaroptozis-miyopi-ektopi lentis sendromu"}},"xrefs":[{"source":"OMIM","code":"110150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"767500518"},{"source":"MONDO","code":"0007202","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536236","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303549","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"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":3.0,"area":"Worldwide","status":"Validated","source":"6978128[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6978128[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null}]}}