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Ondine syndrome

Orpha number ORPHA661
Synonym(s) CCHS
Central congenital hypoventilation syndrome
Congenital central alveolar hypoventilation syndrome
Ondine curse
Prevalence Unknown
Inheritance
  • Autosomal dominant
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • G47.3
OMIM
UMLS
  • C1275808
MeSH -
MedDRA
  • 10007982
  • 10066131
SNOMED CT
  • 361208003
  • 399040002

Summary

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.

Expert reviewer(s)

  • Dr Thi-Tuyet-Ha TRANG

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Detailed information

Summary information
Anesthesia guidelines
  • EN (2014,pdf)
Review article
  • FR (2006,pdf)
Clinical genetics review
  • EN (2014)
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