Congenital central hypoventilation syndrome (CCHS) is a rare, potentially life-threatening disorder. It affects automatic body functions, especially breathing. Signs of CCHS may appear during infancy or later in life. Most people with CCHS eventually require a machine to help them breathe, as well as care from a team of specialists.
Congenital central hypoventilation syndrome (CCHS) is a rare, potentially life-threatening disorder. It’s present at birth and affects a person throughout life. CCHS makes you hypoventilate (breathe too shallowly or too slowly), especially when sleeping. As a result, you don’t get enough oxygen and have too much carbon dioxide in your blood.
CCHS affects the autonomic nervous system, which regulates involuntary bodily processes. The disorder may impact other automatic body functions, including:
It’s also called:
Congenital central hypoventilation syndrome is rare, with only about 1,000 cases identified worldwide.
However, scientists believe that undiagnosed CCHS may have caused some cases of sudden infant death syndrome (SIDS).
The first symptoms of CCHS usually appear shortly after birth and may include:
But mild cases may not be noticed until later in life. Other signs may include:
A mutation in the PHOX2B gene causes CCHS. The gene helps make a protein important to the production of nerve cells during fetal development. Most cases of CCHS involve a sporadic (new, sudden) mutation, but the mutation can be inherited.
The only way to confirm a CCHS diagnosis is to verify a PHOX2B gene mutation through genetic testing.
But healthcare providers may order other tests to understand the condition’s effects, like:
There’s no cure for CCHS. Treatment aims to manage symptoms and keep you safe and comfortable.
Most people with CCHS need lifelong ventilatory support (a machine to help you breathe). Some need it all day, every day. But others need it only during sleep.
Other common supportive treatments include:
Treatment may involve a number of specialists, including:
To date, there are no proven strategies to prevent CCHS.
Life expectancy and disabilities with CCHS vary widely. The prognosis depends on disease severity, as well as the timing and effectiveness of treatments.
With early diagnosis and effective treatment, people with mild CCHS can have fulfilling, productive lives. But those with severe cases or ineffective treatment can have significant disabilities, health issues and a shorter life span.
It’s important to note that people with CCHS may be more likely to get certain nervous system tumors. They should have regular screening tests for:
If you or a loved one has been diagnosed with CCHS, consider asking healthcare providers the following questions:
A note from Cleveland Clinic
Congenital central hypoventilation syndrome (CCHS) is a rare, potentially life-threatening disorder. It affects breathing and other automatic bodily functions as early as infancy or later in life. If you notice that you or your baby has symptoms of CCHS, seek medical attention as soon as possible.
Last reviewed by a Cleveland Clinic medical professional on 03/14/2023.
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