{"orpha":91396,"name":"Isolated cryptophthalmia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91396/","orphanet_url":"https://www.orpha.net/en/disease/detail/91396","names":{"fr":{"name":"Cryptophtalmie isolée","definition":"Malformation congénitale dans laquelle les paupières sont absentes et la peau recouvre le globe oculaire, qui est souvent microphtalme."},"de":{"name":"Kryptophthalmie, isolierte"},"es":{"name":"Criptoftalmia aislada","definition":"Es una anomalía congénita poco frecuente en la que los párpados están ausentes y la piel cubre el globo ocular, que a menudo es microftálmico. Se han descrito algunos casos de criptoftalmía bilateral completa."},"it":{"name":"Criptoftalmia isolata"},"nl":{"name":"Geïsoleerde cryptoftalmie","definition":"Geïsoleerde cryptoftalmie is een congenitale afwijking waarbij oogleden afwezig zijn en huid de oogbol bedekt, die vaak klein is (microftalmie). Er werden zes gevallen van complete bilaterale cryptoftalmie beschreven. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Criptoftalmia isolada"},"pl":{"name":"Skrytoocze izolowane"},"cs":{"name":"Izolovaná kryptoftalmie"},"uk":{"name":"Ізольована криптофтальмія","definition":"A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral crytophthalmia have been described."},"zh":{"name":"孤立型隐眼症"},"tr":{"name":"İzole kriptoftalmi"}},"xrefs":[{"source":"OMIM","code":"123570","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA14.01","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0007410","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305274","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98562,"name":"Cryptophthalmia","classifications":[147,156,189]}],"children":[{"orpha":98949,"name":"Complete cryptophthalmia","type":"Clinical subtype"},{"orpha":98948,"name":"Congenital symblepharon","type":"Clinical subtype"},{"orpha":98950,"name":"Partial cryptophthalmia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FREM2","name":"FRAS1 related extracellular matrix 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29688405[PMID]","hgnc":"25396","ensembl":"ENSG00000150893","omim":"608945","loci":["13q13.3"],"via":{"orpha":98949,"name":"Complete cryptophthalmia"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16352480[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"16352480[PMID]"}],"phenotypes":null}