Central Hypoventilation Syndrome, Congenital
National Organization for Rare Disorders, Inc.
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.
- Haddad syndrome
- autonomic control, congenital failure of
- Ondine curse, congenital
- Ondine-Hirschsprung disease, included
- CCHS with Hirschsprung disease, included
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).
CCHS Family Network (Congenital Central Hypoventilation Syndrome)
71 Maple Street
Oneonta, NY 13820
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
International Foundation for Functional Gastrointestinal Disorders
700 W. Virginia St., 201
Milwaukee, WI 53217
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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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
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Last Updated: 5/13/2010
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