Congenital Central Hypoventilation Syndrome

Important

It is possible that the main title of the report Congenital Central Hypoventilation Syndrome 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
  • autonomic control, congenital failure of
  • Ondine curse, congenital
  • CCHS with Hirschsprung disease, included

Disorder Subdivisions

  • None

General Discussion

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control and autonomic nervous system (ANS) regulation. Respiratory control is the automatic function of breathing in response to varied activities of daily living (ex. exercise, concentration, sleep, eating), so within the context of the ANS. The ANS is the portion of the nervous system that controls or regulates many involuntary body functions including heart rate, blood pressure, temperature regulation, bowel and bladder control, breathing, 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 normal lungs and a normal airway, because of the abnormal control of breathing. A growing number of individuals are now being identified whose symptoms were not apparent until later infancy, childhood, or even adulthood and are called later 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 prenatal development of the ANS. The normal PHOX2B gene has a region 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 above the normal 20 alanines. This is called a polyalanine repeat expansion mutation (PARM). The expansion can be from 24 to 33 alanines, so the genotype for CCHS patients will be 20/24-20/33 (reflecting the normal number of alanines on the normal gene (n=20) and the number of alanines on the abnormal gene (n==24-33). The remaining individuals with CCHS have a different type of abnormality in the PHOX2B gene. These other mutations in the PHOX2B gene are called non-polyalanine repeat expansion mutations (NPARM). They can be missense, nonsense, frameshift, or stop codon mutations and they will typically severely alter the protein coded by the PHOX2B gene.

Resources

CCHS Family Network (Congenital Central Hypoventilation Syndrome)

71 Maple Street

Oneonta, NY 13820

USA

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: 8/22/2103

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