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Central Hypoventilation Syndrome, Congenital
Important
It is possible that the main title of the report Central Hypoventilation Syndrome, Congenitalis not the name you expected.
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 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.
Resources
Congenital Central Hypoventilation Syndrome (CCHS) Family Support Network
71 Maple Street
Oneonta
NY
13820
USA
Tel: (607)432-8872
Fax: (607)431-4351
VanderlaanM@Hartwick.Edu
http://www.CCHSNetwork.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/
International Foundation for Functional Gastrointestinal Disorders
P.O. Box 170864
Milwaukee
WI
53217
USA
Tel: (414)964-1799
Fax: (414)964-7176
800: (888)964-2001
iffgd@iffgd.org
http://www.iffgd.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
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: 4/1/2009
Copyright 1986, 1989, 1990, 1992, 1994, 2004, 2005, 2009 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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