{"orpha":2536,"name":"Microcornea-glaucoma-absent frontal sinuses syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2536/","orphanet_url":"https://www.orpha.net/en/disease/detail/2536","names":{"fr":{"name":"Syndrome de microcornée-glaucome-absence de sinus frontaux","definition":"Syndrome d'anomalie rare du développement embryonnaire caractérisé par l'association d'une microcornée, d'un glaucome et d'une hypoplasie des sinus frontaux. Une peau épaisse au niveau de la paume des mains et un torus palatin ont également été rapportés. Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Mikrokornea-Glaukom-fehlende Stirnhöhlen-Syndrom","definition":"Ein seltener Entwicklungsdefekt während der Embryogenese, der durch die Assoziation von Mikrokornea, Glaukom und Stirnhöhlenhypoplasie gekennzeichnet ist. Seit 1995 gibt es keine weiteren Berichte in der Literatur."},"es":{"name":"Síndrome de microcórnea-glaucoma-ausencia de senos frontales","definition":"Es un defecto del desarrollo embrionario poco frecuente caracterizado por la asociación de microcórnea, glaucoma e hipoplasia del seno frontal. También se ha descrito piel palmar gruesa y torus palatino. No ha habido más casos descritos en la literatura desde 1995."},"it":{"name":"Sindrome da microcornea-glaucoma-assenza dei seni frontali","definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, caratterizzato da microcornea, glaucoma e ipoplasia dei seni frontali. Può associarsi a ispessimento della cute del palmo delle mani e a torus palatinus. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Microcornea - glaucoom - afwezige frontale sinussen-syndroom","definition":"Een syndroom met een zeldzaam ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door de associatie van microcornea, glaucoom en hypoplasie van de frontale sinus. Dikke huid op de handpalmen en torus palatinus werden ook reeds gerapporteerd. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de microcórnea-glaucoma-seios frontais ausentes"},"pl":{"name":"Rogówka mała - jaskra - brak zatok czołowych"},"cs":{"name":"Syndrom zahrnující mikrokorneu, glaukom a chybějící frontální sinus"},"uk":{"name":"Синдром мікрокорнеа-глаукоми-відсутності лобових пазух","definition":"A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995."},"zh":{"name":"小角膜-青光眼-额窦缺失综合征"},"tr":{"name":"Mikrokornea-glokom-frontal sinüs eksikliği sendromu"}},"xrefs":[{"source":"OMIM","code":"156700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007992","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537552","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274800","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3637","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"5781804[PMID]_7636671[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5781804[PMID]_7636671[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002688","label":"Absent frontal sinuses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100789","label":"Torus palatinus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null}]}}