Congenital central hypoventilation syndrome

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

Respiratory Tract Diseases: 6273
- Respiration Disorders: 18
  - Respiratory Insufficiency: 26149
    - Hypoventilation: 1595
      - Congenital central hypoventilation syndrome: 140
  - Apnea: 7216
    - Sleep Apnea Syndromes: 4660
      - Central Sleep Apnea: 749
        Congenital central hypoventilation syndrome: 140
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Respiratory Signs and Symptoms: 25
    - Hypoventilation: 1595
      - Congenital central hypoventilation syndrome: 140
Nervous System Diseases: 14737
- Sleep Wake Disorders: 3817
  - Dyssomnias: 27
    - Intrinsic Sleep Disorders: 11
      - Sleep Apnea Syndromes: 4660
        Central Sleep Apnea: 749
        Congenital central hypoventilation syndrome: 140

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