Currently, there is limited information in the literature regarding the results of whole exome and whole genome sequencing in patients with suspected RSTS without identified changes in CREBBP and EP300. Several studies have described cross-sectional changes between Rubinstein–Taybi, Wiedemann–Steiner, Coffin–Siris, Kabuki, Bohring–Opitz, and Cornelia de Lange syndromes (Enomoto et al., 2022; Negri et al., 2019; Di Fede et al., 2020; Woods et al., 2014; Cucco et al., 2020). This evidence concerns the gene EP300 and Cornelia de Lange syndrome.