---
title: Carpenter syndrome
description: "Carpenter syndrome is a rare craniosynostosis syndrome with skull, facial, and limb abnormalities. Eye problems may arise from altered bone structure and development. ## Ocular features Shallow orbits and midface changes can predispose to exposure and strabismus. - Proptosis, hypertelorism,…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/carpenter-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Carpenter syndrome

Carpenter syndrome is a rare craniosynostosis syndrome with skull, facial, and limb abnormalities. Eye problems may arise from altered bone structure and development.

## Ocular features

Shallow orbits and midface changes can predispose to exposure and strabismus.

- Proptosis, hypertelorism, and down-slanting fissures
- Strabismus, refractive errors, and amblyopia
- Occasional optic nerve anomalies or reduced acuity
- Mutations usually in RAB23 or MEGF8 genes

## Management

Multidisciplinary care is essential.

- Craniofacial surgery to address skull shape and raised pressure
- Ophthalmic follow-up for exposure, squint, and visual development
- Hearing, cardiac, and developmental assessments
- Genetic counselling for affected families