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.
References:
Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, et al. An official ATS clinical policy statement: congenital central hypoventilation syndrome. American Thoracic Society. https://www.thoracic.org/statements/resources/pldd/congenital-central-hypoventilation-syndrome.pdf. Published September 2009. Accessed March 15, 2023.
Spielmann M, Hernandez-Miranda LR, Ceccherini I, et al. Mutations in myo1h cause a recessive form of central hypoventilation with autonomic dysfunction. Journal of Medical Genetics. https://jmg.bmj.com/content/54/11/754. Published November 1, 2017. Accessed March 15, 2023.
Hernandez-Miranda LR, Ibrahim DM, Ruffault P-L, et al. Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. PNAS. https://www.pnas.org/doi/10.1073/pnas.1813520115. Published November 28, 2018. Accessed March 15, 2023.
Trang H, Samuels M, Ceccherini I, et al. Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet J Rare Dis. 2020;15(1):252. Published September 21, 2020. doi:10.1186/s13023-020-01460-2. Accessed March 15, 2023.
