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.
MONDO:0001292
autonomic nervous system disorder
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0021635
neurocristopathy
is_a
MONDO:0100545
hereditary neurological disease
is_a
MONDO:0800031
central hypoventilation syndrome, congenital
is_a
CCHS
exact
Ondine curse
exact
Ondine curse (formerly)
related
Ondine curse, congenital
exact
Ondine syndrome
exact
Ondine's curse (formerly)
related
autonomic control, congenital failure of
exact
central hypoventilation syndrome, congenital
related
congenital Ondine curse
exact
congenital central alveolar hypoventilation syndrome
exact
congenital central hypoventilation
exact
congenital central hypoventilation syndrome
exact
congenital failure of autonomic control
related
idiopathic congenital central alveolar hypoventilation
related
primary alveolar hypoventilation
related