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Genetic and Rare Diseases Information Center (GARD)

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Congenital central hypoventilation syndrome


Other Names for this Disease

  • CCHS
  • Congenital failure of autonomic control
  • Congenital Ondine curse
  • Idiopathic congenital central alveolar hypoventilation
  • Ondine curse (formerly)
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Overview

What is congenital central hypoventilation syndrome?

How is congenital central hypoventilation syndrome inherited?

What is congenital central hypoventilation syndrome?

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that causes individuals to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth; affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; occasional episodes of profuse sweating; Hirschsprung disease; learning difficulties; eye abnormalities; and a characteristic appearance with a short, wide, somewhat flattened face. It is caused by mutations in the PHOX2B gene and is inherited in an autosomal dominant manner, but over 90 percent of cases result from new mutations and occur in people with no history of the disorder in their family. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker.[1]
Last updated: 5/28/2012

How is congenital central hypoventilation syndrome inherited?

Congenital central hypoventilation syndrome is inherited in an autosomal dominant pattern.  This means that if a parent has this condition, there is a 1 in 2 chance (50%) that each of his/her children will inherit this condition and will most likely need a tracheostomy as treatment.  There is also a 1 in 2 chance that each child will not inherit this condition.[2]
Last updated: 5/31/2012

References
  1. Congenital central hypoventilation syndrome. Genetics Home Reference. September 2008; http://www.ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome. Accessed 5/12/2011.
  2. Weese-Mayer DE, Marazita ML, Berry-Kravis EM, Patwari PP. Congenital Central Hypoventilation Syndrome. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1427/. Accessed 5/28/2012.


Other Names for this Disease
  • CCHS
  • Congenital failure of autonomic control
  • Congenital Ondine curse
  • Idiopathic congenital central alveolar hypoventilation
  • Ondine curse (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.