National Organization for Rare Disorders, Inc.
Important
It is possible that the main title of the report Central Hypoventilation Syndrome, Congenital
is not the name you expected. Please check the synonyms listing to find
the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
- CCHS
- Haddad syndrome
- autonomic control, congenital failure of
- Ondine curse, congenital
- Ondine-Hirschsprung disease, included
- OHD
- CCHS with Hirschsprung disease, included
Disorder Subdivisions
- None
General Discussion
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.
Resources
Congenital Central Hypoventilation Syndrome (CCHS) Family Support Network
71 Maple Street
Oneonta, NY 13820
USA
Tel: 6074328872
Fax: 6074314351
Email: VanderlaanM@Hartwick.Edu
Internet: http://www.CCHSNetwork.org
American Sleep Disorders Association
1610 14th Street NW
Suite 300
Rochester, MN 55901
Tel: (507)287-6006
Fax: (507)287-6008
Email: asda@millcomm.com
Center for Research in Sleep Disorders
1275 East Kemper Rd.
Cincinnati, OH 45246
Tel: (513)671-3101
Fax: (513)671-4159
TDD: (311)111-6111
Email: ggaz@tristatesleep.com
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/
International Foundation for Functional Gastrointestinal Disorders
P.O. Box 170864
Milwaukee, WI 53217
USA
Tel: 4149641799
Fax: 4149647176
Tel: 8889642001
Email: iffgd@iffgd.org
Internet: http://www.iffgd.org
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
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 2/23/2008
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