---
title: Barber say syndrome
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/barber-say-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Barber say syndrome

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