---
title: Cardiofaciocutaneous syndrome
description: "Cardiofaciocutaneous syndrome is a RASopathy characterised by heart defects, distinctive facial features, and skin/hair abnormalities. Eye problems frequently occur. ## Ocular manifestations Visual development may be affected by several mechanisms. - Strabismus, nystagmus, and refractive errors - Ptosis, optic nerve…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/cardiofaciocutaneous-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome is a RASopathy characterised by heart defects, distinctive facial features, and skin/hair abnormalities. Eye problems frequently occur.

## Ocular manifestations

Visual development may be affected by several mechanisms.

- Strabismus, nystagmus, and refractive errors
- Ptosis, optic nerve anomalies, or cortical visual impairment in some children
- Dry eye or exposure if lids do not close fully
- Mutations typically in BRAF, MAP2K1, MAP2K2, or KRAS

## Management

Supportive care addresses both systemic and ocular issues.

- Regular eye examinations with treatment of refractive error and squint
- Cardiology oversight for congenital heart disease
- Developmental therapies and early support services
- Genetic counselling for affected families