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Ondine 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. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B 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.
ORPHA:661
- Synonym(s):
- CCHS
- Central congenital hypoventilation syndrome
- Congenital central alveolar hypoventilation syndrome
- Ondine curse
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Not applicable
- Age of onset: Infancy, Neonatal
- ICD-10: G47.3
- OMIM: 209880
- UMLS: C1275808
- MeSH: -
- GARD: 8535
- MedDRA: 10007982 10066131
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- English (2014, pdf)
- Clinical practice guidelines
- Français (2018, pdf)
- Clinical genetics review
- English (2014)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.