Congenital central hypoventilation syndrome
Other Names for this Disease
- Central congenital hypoventilation syndrome
- Congenital central alveolar hypoventilation syndrome
- Congenital failure of autonomic control
- Congenital Ondine curse
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.Congenital central hypoventilation syndrome (CCHS) is a
Last updated: 5/28/2012
- Congenital central hypoventilation syndrome. Genetics Home Reference. September 2008; http://www.ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome. Accessed 5/12/2011.
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