Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Definition
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 autonomic control, congenital failure of, CCHS, congenital central alveolar hypoventilation syndrome, congenital central hypoventilation, congenital central hypoventilation syndrome, congenital Ondine curse, Ondine curse, Ondine curse, congenital, Ondine syndrome — per MONDO