Congenital central hypoventilation syndrome | Disease | Overview | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Congenital central hypoventilation syndrome | Disease | Overview | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Congenital Central Hypoventilation Syndrome

02/02/2016 04:30 PM EST

Source: Office of Rare Diseases - 
Related MedlinePlus Page: Autonomic Nervous System Disorders

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 mutationin 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 includesmechanical 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.

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• 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