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Excerpted from the GeneReview: Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory and autonomic regulation. It is typically characterized by a classic presentation in newborns and, rarely, a milder later-onset (LO-CCHS) presentation in toddlers, children, and adults. Classic CCHS presents in newborns as: Apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; Autonomic nervous system dysregulation (ANSD); and In some individuals, altered development of neural crest-derived structures (i.e., Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Individuals with CCHS who have been diagnosed as newborns and ventilated conservatively and consistently throughout childhood have now reached the age of 20 to 30 years; they are highly functional and live independently. LO-CCHS manifests as nocturnal alveolar hypoventilation and mild ANSD. Individuals with LO-CCHS who were not identified until age 20 years or older have now reached the age of 30 to 55 years.

Genes See tests for all associated and related genes

  • Also known as: ASH1, HASH1, MASH1, bHLHa46, ASCL1
    Summary: achaete-scute family bHLH transcription factor 1

  • Also known as: ET-3, ET3, HSCR4, PPET3, WS4B, EDN3
    Summary: endothelin 3

  • Also known as: ATF, ATF1, ATF2, HFB1-GDNF, HSCR3, GDNF
    Summary: glial cell derived neurotrophic factor

  • Also known as: CCHS, NBLST2, NBPhox, PMX2B, PHOX2B
    Summary: paired like homeobox 2B

  • Also known as: CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1, RET
    Summary: ret proto-oncogene

Clinical features


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