NIH

Zebra of the Week: Central hypoventilation syndrome

June 23, 2025

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It has two forms of presentation, a classic form that usually begin shortly after birth, and a milder later-onset presentation in toddlers, children, and adults. Infants with CCHS may hypoventilate upon falling asleep and exhibit cyanosis.

Other manifestations may include difficulty regulating heart rate and BP; 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 may be associated with tumors of neural crest origin, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.

CCHS is caused by a variation in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new genetic change in the affected person and aren't inherited from a parent. Diagnosis is made clinically and via genetic testing showing the variation in the PHOX2B gene.

Source:

(Accessed 2025, June 20). NIH [Genetic and Rare Diseases Information Center]. Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease. https://rarediseases.info.nih.gov/diseases/8535/central-hypoventilation-syndrome-congenital-1-with-or-without-hirschsprung-disease