IL1R2 and ablepharon macrostomia syndrome: NFκB2 and STAT2 were downregulated in AMS + individuals in both cohorts and statistically significant in one of the cohorts, diminishing their roles in suppressing immune responses, while IL1R2, a type 2 interleukin 1 (IL-1) receptor that negatively regulates IL-1 inflammation signaling, was significantly overexpressed in AMS + individuals in both cohorts (Supplementary Table S1).