PACS1 and Schuurs-Hoeijmakers syndrome: Since Schuurs-Hoeijmakers first characterized the recurrent de novo variation of PACS1 (c.607C > T) in two unrelated individuals in 2012 (Schuurs-Hoeijmakers et al., 2012), approximately 63 cases with SHMS have been described in the literature until now, including 60 postnatal individuals and three prenatal cases (Kurt Colak et al., 2020; Lusk et al., 2020; Seto et al., 2020; Gana et al., 2021; Tenorio-Castano et al., 2021).