Living with Microcornea-glaucoma-absent frontal sinuses syndrome
A rare inherited syndrome with small corneas, glaucoma, and frontal sinuses (air spaces in the forehead) that did not form.
Understanding Microcornea-glaucoma-absent frontal sinuses syndrome
This syndrome combines small corneas (microcornea), glaucoma, and underdeveloped frontal sinuses. Thick skin on the palms and a bony bump on the roof of the mouth (torus palatinus) have also been reported. Signs can be seen from birth to childhood. GARD notes there have been no further descriptions in the medical literature since 1995.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small corneas (microcornea)
- Glaucoma
- Vision impairment
- Frontal sinuses that did not form
- Thick skin on the palms and soles
- Flat, round face
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with BrightFocus Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this syndrome. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Patient organizations
- BrightFocus FoundationMicrocornea-glaucoma-absent frontal sinuses syndrome · United States
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