Central Hypoventilation Syndrome, Congenital / Disease

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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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