Barber-Say syndrome is a very rare genetic condition characterised by distinctive facial features and excessive body hair hypertrichosis. Eye and eyelid abnormalities can occur as part of the syndrome.
Key features
Babies are usually diagnosed in early life based on appearance.
- Coarse facial features, wide mouth, and thin or absent lips
- Generalised hypertrichosis and loose, wrinkled skin
- Eyelid malpositions and exposure that may affect the ocular surface
- Mutations in genes such as KMT2A have been reported in some families
Management
Treatment is supportive and multidisciplinary.
- Regular ophthalmic review for exposure, refractive error, and amblyopia
- Dermatology and genetic counselling input
- Monitoring of growth, development, and any associated anomalies
- Psychological support for visible differences
