An inherited disorder where patients present with abnormal respiration in the absence of neuromuscular, lung or cardiac diseases, or an identifiable brainstem lesion. Hypoventilation occurs during sleep but can occur during wakefulness in severe cases.Autonomic defects cause inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Germline mutations in the PHOX2B, ASCL2, EDN3, and RET genes have been identified. OMIM: 209880
Also Known As:
Autonomic Control, Congenital Failure of; Cchs With Hirschsprung Disease; Central Hypoventilation Syndrome, Congenital; Congenital Ondine curse; Congenital failure of autonomic control; Haddad Syndrome; Idiopathic congenital central alveolar hypoventilation; Ondine Curse, Congenital; Ondine-Hirschsprung Disease; Primary alveolar hypoventilation