Although an early targeted search for AEBP1 mutations in infants affected by gastroschisis did not clearly support a connection (Feldkamp et al., 2012), a large number of recent publications have shown that mutations in the AEBP1 gene result in a subtype of autosomal recessive Ehlers-Danlos syndrome (EDS) (Alazami et al., 2016; Blackburn et al., 2018; Hebebrand et al., 2019; Ritelli et al., 2019; Syx et al., 2019; Di Giosaffatte et al., 2022; Angwin et al., 2023; Sanai et al., 2023; Yamaguchi et al., 2023). This evidence concerns the gene AEBP1 and Ehlers-Danlos syndrome.