---
title: Congenital central hypoventilation syndrome (CCHS)
description: "CCHS is a rare genetic disorder where automatic control of breathing during sleep and sometimes wakefulness is impaired. Eye problems can occur as part of broader autonomic dysfunction. ## Neurological and ocular features CCHS is usually diagnosed in infancy due…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/congenital-central-hypoventilation-syndrome-cchs/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Congenital central hypoventilation syndrome (CCHS)

CCHS is a rare genetic disorder where automatic control of breathing during sleep and sometimes wakefulness is impaired. Eye problems can occur as part of broader autonomic dysfunction.

## Neurological and ocular features

CCHS is usually diagnosed in infancy due to life-threatening hypoventilation.

- Failure to breathe adequately during sleep without ventilatory support
- Associated Hirschsprung disease and tumours of neural crest origin
- Ocular findings such as abnormal pupil responses and strabismus in some patients
- PHOX2B gene mutations are strongly linked

## Management

Care is lifelong and multidisciplinary.

- Ventilatory support via tracheostomy, mask, or diaphragm pacing
- Regular monitoring for associated tumours and bowel disease
- Ophthalmic follow-up for strabismus, refractive error, and visual development
- Genetic counselling for affected families