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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: Disorder
  • Synonym(s):
    • CCHS
    • Congenital central alveolar hypoventilation syndrome
    • Ondine curse
    • Ondine syndrome
  • 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

Summary

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.

Expert reviewer(s):  Dr Ha Thi-Tuyet TRANG - Last update: February 2006

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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.