microcornea-glaucoma-absent frontal sinuses syndrome
MONDO:0007992Mondo
Findings
No curated finding names microcornea-glaucoma-absent frontal sinuses syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0007992), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Absent frontal sinusesHPOHP:0002688
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
- MicrocorneaHPOHP:0000482
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Torus palatinusHPOHP:0100789
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- Round faceHPOHP:0000311
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
Where it sits
- A kind of