---
title: "Coffin-lowry syndrome"
description: "Coffin-Lowry syndrome is an X-linked developmental disorder characterised by intellectual disability and distinctive facial and skeletal features. Various eye problems may occur. ## Ocular features Vision issues are part of a broader multisystem picture. - Strabismus, refractive errors, and occasional…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/coffin-lowry-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Coffin-lowry syndrome

Coffin-Lowry syndrome is an X-linked developmental disorder characterised by intellectual disability and distinctive facial and skeletal features. Various eye problems may occur.

## Ocular features

Vision issues are part of a broader multisystem picture.

- Strabismus, refractive errors, and occasional optic nerve anomalies
- Ptosis or other eyelid abnormalities in some patients
- Possible retinal changes or coloboma in rare cases
- RPS6KA3 gene mutations underlie the condition

## Management

Treatment is supportive and focuses on maximising function.

- Early ophthalmic assessment and glasses or squint surgery as needed
- Developmental, educational, and physiotherapy support
- Genetic counselling for affected families
- Monitoring for cardiac and skeletal complications