Microcornea-glaucoma-absent frontal sinuses syndrome

Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000482 Microcornea Very frequent (99-80%)
HP:0000501 Glaucoma Very frequent (99-80%)
HP:0000929 Abnormal skull morphology Very frequent (99-80%)
HP:0000982 Palmoplantar keratoderma Very frequent (99-80%)
HP:0002688 Absent frontal sinuses Very frequent (99-80%)
HP:0100789 Torus palatinus Very frequent (99-80%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000311 Round face Frequent (79-30%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0012368 Flat face Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID