In recent years, the phenotypic spectrum of POLR3-related disorders has enlarged significantly, including severe neonatal and infantile presentations to late onset mild ones.20–32 Reports of craniofacial characteristics of individuals with POLR3-related disorders are scarce and include patients with biallelic pathogenic variants in POLR1C,14 a gene also associated with Treacher Collins syndrome (TCS), as well as patients with Wiedemann-Rautenstrauch syndrome (WRS) associated with biallelic pathogenic variants in POLR3A. Here, POLR3A is linked to Wolcott-Rallison syndrome.