Central alveolar hypoventilation syndrome

Also known as: Ondine curse

Failure of automatic breathing control during sleep.

Medical specialty: Pulmonology
Subspecialty: Pulmonology / Sleep and breathing disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, neonatal onset
Gene(s) involved: BDNF, EDN3, GDNF, PHOX2B, RET

Etiology & mechanism

Impaired chemoreceptor response in the brainstem.

Gene(s) involved (5)

BDNFEDN3GDNFPHOX2BRET

Symptoms & signs (6)

apnea in sleepautonomic dysfunctioncyanosishirschsprung diseasehypoventilationneural crest tumors

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