Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

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.

Also known as: CCHS, Ondine curse, Ondine curse, congenital, Ondine syndrome, autonomic control, congenital failure of, congenital Ondine curse, congenital central alveolar hypoventilation syndrome, congenital central hypoventilation

3 clinical trials for this condition and its sub-types.