Since 2014, when Tsurusaki et al. used WES technology to identify pathogenic mutations in SOX11 in two unrelated children with CSS-featured phenotypes, including hypertrichosis, impaired intellectual development, and hypoplastic distal fingers/toes (6), more than 50 individuals worldwide with multiple organ malformations carrying SOX11 variants have been reported and the phenotypic spectrum of CSS9 has expanded annually; hence, new reports describing CSS9-related phenotypes can help identify further genotype‒phenotype correlations related to this congenital disorder. This evidence concerns the gene SOX11 and Coffin-Siris syndrome.