Connecting patients with rare or 

undiagnosed genetic mutations for CCHS

Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder that affects how the brain controls breathing.

Most cases are caused by a mutation in a gene called PHOX2B (1).

However, the scientific literature describes a small number of cases where CCHS is caused by a mutation in a gene other than PHOX2B (2, 3). And some people with a CCHS diagnosis but negative PHOX2B testing may have a genetic mutation that has not been discovered yet (4). 

Cases of CCHS with negative PHOX2B testing are a rare manifestation of a rare disease — thus the name rare squared and the double zebra image.

This site exists for patients with CCHS who have tested negative for mutations in PHOX2B. By connecting with each other, we can share information to help navigate this confusing medical landscape.