Congenital central hypoventilation syndrome

What is Congenital central hypoventilation syndrome?

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of <i>PHOX-2B</i> gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

Other condition names

  • CCHS
  • Central congenital hypoventilation syndrome
  • Congenital central alveolar hypoventilation syndrome
  • Ondine curse

Inheritance type

Autosomal dominant, Not applicable

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.