/central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

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

Rare Disease

MONDO:0800026

Also Known As

CCHSOndine curseOndine curse, congenitalOndine syndromeautonomic control, congenital failure ofcentral congenital hypoventilation syndromecongenital Ondine cursecongenital central alveolar hypoventilation syndromecongenital central hypoventilationcongenital central hypoventilation syndromeCCHS with Hirschsprung diseaseHaddad syndromeOndine curse (formerly)Ondine's curse (formerly)Ondine-Hirschsprung diseasecentral hypoventilation syndrome, congenitalcongenital failure of autonomic controlidiopathic congenital central alveolar hypoventilationprimary alveolar hypoventilation

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.