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 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 (respiratory control) is the hallmark of 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.
CCHS Family Support Network (Congenital Central Hypoventilation Syndrome)
71 Maple Street
Oneonta, NY 13820
National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
International Foundation for Functional Gastrointestinal Disorders
P.O. Box 170864
Milwaukee, WI 53217
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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