How many patients with CCHS? – Keep Me Breathing

How many people with CCHS? Number of CCHS Cases Worldwide

Data indicates that there may be more than 5000 active CCHS cases worldwide. This may significantly less than the true number of cases because complex genetic screening is required to make a diagnosis and devastating events such as SIDS can occur in infants with undiagnosed CCHS. An estimated 35,000-50,000 babies have been born with CCHS since 1970 (World birth rate 1970-2022 divided by estimated incidence proposed in: Guidelines for diagnosis and management of congenital central hypoventilation syndrome Ha Trang, Martin Samuels, Isabella Ceccherini et al).

This condition varies in severity, and is linked with other conditions such as Neuroblastoma (a type of childhood cancer) and Hirschsprung’s disease.

Sometimes in very mild CCHS cases, CCHS itself can be missed, but other symptoms can still appear (Neuroblastoma being an example), with CCHS only being diagnosed upon the commencement of treatment for other symptoms, or not at all.

Get involved in beating CCHS

We are building The Breathing Pacemaker for CCHS.

CCHS and SIDS (Sudden Infant Death Syndrome)

Some genetic variants in the gene PHOX2B have been found in studies of Sudden Infant Death Syndrome (SIDS)

However it has not been established whether these genetic variants are causally linked to sudden infant death syndrome, or whether they are incidental findings that are part of normal human genetic variation. This is something we strongly advocate exploring.

The Evidence: How we know CCHS and SIDS are linked

Multiple PHOX2B mutations have been identified via autopsy and post genetic testing in Stillborn and SIDS cases. See a paper published in November 2025 for further evidence here: Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus

Up to 1 in 10 sudden infant deaths may involve genetic variants in the PHOX2B gene, the same gene responsible for CCHS. (Two studies, showing 4% and 13% of SIDS cases had some kind of deviation in PHOX2B (contraction, polymorphism) another with expansion. PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population. See the evidence, published in journals here

Keep Me Breathing

Join the fight against CCHS

Low patient numbers

Mean commercial investment does not exist

We need your help to beat CCHS! Email info@keepmebreathing.com to set up a fundraising event, get your pack and ask any CCHS that comes to mind. We're here to help.

CCHS Cases by Country

Official figures are hard to come by

Official numbers do not exist. In the UK there are estimated to be around 150 confirmed and diagnosed cases with hundreds more in the USA and across Europe. A significant cohort exist in Australia, Japan and other countries too.

Why primarily children?

CCHS cases are child heavy

What happened in the past, is that a huge proportion of these patients died during infancy and childhood. We will change that, and right that wrong. Now more babies born with the condition live, there are still extreme dangers and a quality of life issue.