PHOX2B and Hirschsprung disease: CCHS patients with PHOX2B mutations frequently manifest Hirschsprung’s disease, revealing that genetic disturbances on PHOX2B can simultaneously alter the development of both the central and peripheral nervous systems (Weese-Mayer et al., 2008, 2017; Sivan et al., 2019; Ceccherini et al., 2022).