Congenital central hypoventilation syndrome (CCHS)

Congenital central hypoventilation syndrome (CCHS) is a genetic condition from birth in which the brain fails to properly control breathing during sleep. The hypoventilation — a decrease in the rate and/or depth of breathing — causes the child’s oxygen values to decrease and the carbon dioxide values to increase. This occurs during sleep in all cases of CCHS and, in most cases, during wakefulness as well. Mechanical ventilation with a respiratory is usually needed, though in some cases diaphragm pacing may be useful.

An individual with CCHS also has a poorly regulated autonomic nervous system (ANS), a system in the body that regulates not only breathing but also heart rate, gut motility, sweating, temperature regulation, pupil size and more. The problem can slow the motility of the esophagus and colon so that food moves much too slowly down the esophagus to the stomach and also through the colon, which can sometimes cause severe constipation -- a condition known as Hirschsprung diseases (megacolon). The heart rate may also be abnormally slow.

Some patients have down slanting eyes, a small nose, a triangular-shape mouth, and ears that are low-set and backwards rotated.

No differences in the occurrence of CCHS are evident based on race. Both sexes appear to be equally affected.

Even though CCHS is congenital, the symptoms may not be apparent at birth especially if the symptoms are mild. Consequently, a small number of cases are being found in later infancy, childhood and even adulthood.