Diseases & Conditions


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Central Hypoventilation Syndrome, Congenital


Synonyms of Central Hypoventilation Syndrome, Congenital
  • autonomic control, congenital failure of
  • CCHS
  • CCHS with Hirschsprung disease, included
  • Haddad syndrome
  • OHD
  • Ondine curse, congenital
  • Ondine-Hirschsprung disease, included

Disorder Subdivisions



    General Discussion
    Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic nervous system dysregulation (ANSD). The autonomic nervous system is the portion of the nervous system that controls or regulates certain involuntary body functions including heart rate, blood pressure, temperature regulation, breathing, and bowel and bladder control. Impaired breathing (respiratory control) is the main finding associated with CCHS. Individuals with CCHS typically present in the newborn period with inadequate breathing (alveolar hypoventilation) during sleep and, in more severely affected individuals, during wakefulness and sleep. Breathing complications occur despite the lungs and airways being normal. A growing number of individuals are now being identified who present in later infancy, childhood, or even adulthood.

    All individuals with CCHS have a mutation in the PHOX2B gene. The vast majority of individuals (90%) with CCHS have a polyalanine repeat expansion mutation (PARM) in PHOX2B. The remaining individuals with CCHS have a non-polyalanine repeat expansion mutation (NPARM) in the PHOX2B gene.

    Organizations related to Central Hypoventilation Syndrome, Congenital
    • Congenital Central Hypoventilation Syndrome (CCHS) Family Support Network
      71 Maple Street
      Oneonta NY 13820
      Phone #: 607-432-8872
      800 #: --
      e-mail: VanderlaanM@Hartwick.Edu
      Home page: http://www.CCHSNetwork.org
    • International Foundation for Functional Gastrointestinal Disorders
      P.O. Box 170864
      Milwaukee WI 53217
      Phone #: 414-964-1799
      800 #: 888-964-2001
      e-mail: iffgd@iffgd.org
      Home page: http://www.iffgd.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html