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Congenital central hypoventilation syndrome
Disease definition
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.
ORPHA:661
Classification level: DisorderSummary
Epidemiology
The incidence is estimated to be at 1 of 200 000 livebirths.
Clinical description
Association with a Hirschsprung's disease is observed in 16% of the cases.
Etiology
A heterozygous mutation of PHOX-2B gene is found in 90% of the patients.
Prognosis
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.
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- Czech (2014)
- English (2014)
- Clinical practice guidelines
- English (2020)
- Français (2018)
- Clinical genetics review
- English (2021)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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