Congenital central hypoventilation syndrome. A neurocristopathy with disordered respiratory control and autonomic regulation

Casey M. Rand, Michael Sean Carroll, Debra E Weese-Mayer*

*Corresponding author for this work

Research output: Contribution to journalReview article

18 Scopus citations


Congenital central hypoventilation syndrome (CCHS), a rare neurocristopathy with disordered respiratory control, is characterized by alveolar hypoventilation and diffuse autonomic nervous system (ANS) dysregulation. Mutations in the paired-like homeobox 2B (PHOX2B) are causative, leading to physiologic ANS dysregulation and pathologic abnormalities. Presentation is typically during the newborn period with alveolar hypoventilation during sleep, or in more severely affected individuals, during sleep and wakefulness. Breathing complications occur despite the lungs and airways being normal. Disordered respiratory control demonstrated by absent or severely attenuated ventilatory, behavioral, and arousal responses to both endogenous and exogenous hypoxemia and hypercarbia results in severe physiologic compromise.

Original languageEnglish (US)
Pages (from-to)535-545
Number of pages11
JournalClinics in Chest Medicine
Issue number3
StatePublished - Jan 1 2014



  • Autonomic
  • CCHS
  • Hirschsprung
  • Neuroblastoma
  • PHOX2B
  • Respiratory

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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