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Congenital Central Hypoventilation Syndrome

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

Prevalence

Exact prevalence unknown

N/A

US Estimated

N/A

Europe Estimated

Age of Onset

Infancy

ICD-10

G47.3

Inheritance Pattern

Autosomal dominant

5 Facts you should know

FACT

Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder affecting the autonomic control of breathing, characterized by inadequate breathing responses to low oxygen and high carbon dioxide levels

FACT

Clinical presentation often occurs in the newborn period with hypoventilation, cyanosis, and need for ventilatory support; however, milder late-onset cases can present later in childhood or adulthood with sleep-disordered breathing

FACT

Beyond respiratory control, CCHS reflects a broader autonomic nervous system dysregulation, with associated features including Hirschsprung disease, abnormal pupillary responses, cardiac arrhythmias, and altered temperature regulation

FACT

Genetic testing of PHOX2B confirms the diagnosis, with polyalanine repeat expansions being the most common pathogenic variants, while non-polyalanine mutations may be associated with more severe or syndromic phenotypes

FACT

Lifelong ventilatory support is required, often via tracheostomy with positive pressure ventilation, diaphragm pacing, or non-invasive ventilation, alongside multidisciplinary management to address associated autonomic and neurodevelopmental complications

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