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Diseases

Genetic and Rare Diseases Information Center (GARD)

Congenital central hypoventilation syndrome


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

Overview

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person 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; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). CCHS is caused by a mutation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker.[1][2]
Last updated: 1/12/2016

References

  1. Congenital central hypoventilation syndrome. Genetics Home Reference. September 2008; http://www.ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome.
  2. Debra E Weese-Mayer, Mary L Marazita, Casey M Rand, and Elizabeth M Berry-Kravis. Congenital Central Hypoventilation Syndrome. GeneReviews. January 30, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1427/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Congenital central hypoventilation syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital central hypoventilation syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CCHS
  • Idiopathic congenital central alveolar hypoventilation
  • Congenital failure of autonomic control
  • Primary alveolar hypoventilation
  • Congenital Ondine curse
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.