Central Hypoventilation Syndrome, Congenital

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 disorder of respiratory control with 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, bowel and bladder control, and more. Impaired breathing regulation (respiratory control) is the hallmark of CCHS. Individuals with CCHS typically present in the newborn period with inadequate shallow 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 and are called Late Onset Congenital Central Hypoventilation Syndrome (LO-CCHS).

All individuals with CCHS have a mutation in the PHOX2B gene. The PHOX2B gene plays an important role in the development of the Autonomic Nervous System (ANS). The normal PHOX2B gene has a section with 20 repeats of a code for the amino acid, alanine. For those individuals with CCHS, the majority (~90%) have a mutation causing an increase in the number of these alanine repeats. This is called a polyalanine repeat expansion mutation (PARM). The remaining individuals with CCHS have a different type of abnormality in the PHOX2B gene. These other mutations in the PHOX2B gene are called a non-polyalanine repeat expansion mutation (NPARM).

Resources

CCHS Family Network (Congenital Central Hypoventilation Syndrome)
71 Maple Street
Oneonta, NY 13820
USA
Tel: (607)432-8872
Fax: (607)431-4351
Email: vanderlaanm@hartwick.edu
Internet: http://www.CCHSNetwork.org

NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Internet: http://www.ninds.nih.gov/

International Foundation for Functional Gastrointestinal Disorders
700 W. Virginia St., 201
Milwaukee, WI 53217
USA
Tel: (414)964-1799
Fax: (414)964-7176
Tel: (888)964-2001
Email: iffgd@iffgd.org
Internet: http://www.iffgd.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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:  5/13/2010
Copyright  1986, 1989, 1990, 1992, 1994, 2004, 2005, 2009, 2010 National Organization for Rare Disorders, Inc.

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