{"orpha":1117,"name":"Aplasia cutis-myopia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Gershoni-Baruch-Leibo syndrome"],"definition":"A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1117/","orphanet_url":"https://www.orpha.net/en/disease/detail/1117","names":{"fr":{"name":"Syndrome d'aplasie cutanée-myopie","synonyms":["Syndrome de Gershoni-Baruch-Leibo"],"definition":"Le syndrome d'aplasie cutanée-myopie est caractérisé par l'association d'une aplasie cutanée congénitale avec une forte myopie, un nystagmus congénital et un dysfonctionnement cônes-bâtonnets. Il a été décrit chez un garçon et sa soeur. Le mode de transmission est autosomique dominant."},"de":{"name":"Aplasia cutis congenita-Myopie-Syndrom","synonyms":["Gershonibaruch-Leibo-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch das gemeinsame Auftreten von Aplasia cutis congenita, hochgradiger Myopie, angeborenem Nystagmus und Zapfen-Stäbchen-Dysfunktion."},"es":{"name":"Síndrome de aplasia cutis-miopía","synonyms":["Síndrome de Gershoni-Baruch-Leibo"],"definition":"Es un síndrome poco frecuente caracterizado por la asociación de aplasia cutis congénita con miopía acusada, nistagmos congénitos y disfunción de conos y bastones. Se ha descrito en dos hermanos (hermano y hermana). La transmisión es autosómica dominante."},"it":{"name":"Aplasia cutanea - miopia","synonyms":["Sindrome di Gershoni-Baruch-Leibo"]},"nl":{"name":"Aplasia cutis - myopie-syndroom","synonyms":["Syndroom van Gershoni-Baruch-Leibo"],"definition":"Een zeldzame aandoening gekarakteriseerd door de associatie van aplasia cutis congenita met hoge myopie, congenitale nystagmus en kegel-staafdisfunctie. Het werd beschreven bij een broer en een zus. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Síndrome de aplasia cutânea-miopia"},"pl":{"name":"Ubytek skóry - miopia","synonyms":["Zespół Gershoni, Baruchi i Leibo"]},"cs":{"name":"Syndrom zahrnující aplasia cutis a myopii","synonyms":["Gershoniho-Baruchův-Leiboův syndrom","Gershoni-Baruch-Leiboův syndrom"]},"uk":{"name":"Синдром аплазії шкіри-міопії","synonyms":["Синдром Гершоні-Баруха-Лейбо"],"definition":"A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant."},"zh":{"name":"皮肤发育不良-近视综合征","synonyms":["Gershoni-Baruch-Leibo综合征"]},"tr":{"name":"Aplasia kutis-miyopi sendromu","synonyms":["Gershoni-Baruch-Leibo sendromu"]}},"xrefs":[{"source":"OMIM","code":"601075","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"397976503"},{"source":"MONDO","code":"0010988","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304032","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"756","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3395567[PMID]_8741916[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3395567[PMID]_8741916[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006934","label":"Congenital nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null}]}}