In an autosomal-recessive manner, pathogenic variants of B3GALT6 lead to a multisystem disorder mainly comprising bone deformity and connective tissue disruption, that is, spondylodysplastic EDS (Malfait et al., 2013; Nakajima et al., 2013; Van Damme et al., 2018; Caraffi et al., 2019). This evidence concerns the gene B3GALT6 and spondylodysplastic Ehlers-Danlos syndrome.