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Central Hypoventilation Syndrome, Congenital
Condition Overview: Congenital central hypoventilation syndrome (CCHS) is a rare neurological disorder present at birth that is characterized by inadequate breathing during sleep and, in more severely affected individuals, also during waking periods. This disorder is associated with a malfunction of the nerves that control involuntary body functions (autonomic nervous system) and abnormal development of early embryonic cells that form the spinal cord (neural crest). The abnormal neural crest development can lead to other abnormalities such as absent or impaired bowel function (Hirschsprung’s disease). Most individuals with CCHS have an abnormality in the PHOX2B gene. |
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