Congenital Central Hypoventilation Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Congenital Central Hypoventilation Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Congenital central hypoventilation syndrome (CCHS) is a rare lifelong and life-threatening disorder. CCHS affects the central and autonomic nervous system which controls many of the automatic functions in the body such as heart rate, blood pressure, sensing of oxygen and carbon dioxide levels in the blood, temperature, bowel and bladder control, and more. The most recognized symptom of CCHS is the inability to control breathing that varies in severity, resulting in the need for life-long ventilatory support during sleep in some patients or all the time in others. There are estimated to be 1000 – 1200 cases of CCHS world-wide. CCHS affects males and females equally. Currently, there is no cure for CCHS.

The underlying cause of CCHS is mutation in the PHOX2B gene. Most children with CCHS have mutations of the PHOX2B gene called poly-alanine repeat expansion mutations (PARMs). Some children with CCHS have different mutations in the PHOX2B gene not related to PARMs called non-poly-alanine repeat expansion mutations (NPARMs). Both PARMs and NPARMs lead to impaired function of the PHOX2B protein. See the Causes section for more information.

Supporting Organizations

CCHS Family Network (Congenital Central Hypoventilation Syndrome)

71 Maple Street
Oneonta, NY 13820
Fax: (607)431-4351

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

International Foundation for Functional Gastrointestinal Disorders

700 W. Virginia St., 201
Milwaukee, WI 53217
Tel: (414)964-1799
Fax: (414)964-7176
Tel: (888)964-2001

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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to 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.

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.

Last Updated:  7/27/2016
Copyright  2016 National Organization for Rare Disorders, Inc.