Congenital Central Hypoventilation Syndrome (CCHS) or Syndrome d’Ondine is a disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or impaired.
A CCHS child’s respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is typically sluggish during awake hours and absent, to varying degrees, during sleep, serious illness, and/or stress.
It concerns 1 case for 200,000 persons in the world which represents around 500 cases and 90 cases in France. The research is in progress.
CCHS implies systematic mechanical ventilation, compulsory and vital, breathing through a tracheotomy or a nasal mask for the older ones, for the rest of their life.
Despite this serious handicap, most children can lead a life “almost normal”, thanks to an important parental supervision and very strict medical monitoring.
Some CCHS patient (children or adults) suffer also from various disorder cardiac, body temperature, ocular, digestive, psychological and behavior.