Mutations in the Dll3 and other segmentation clock pathway genes have been demonstrated to lead to axial malformations in both mouse and human disorders of the spondylocostal dysostosis skeletal dysplasia group (Turnpenny et al., 2017; Nóbrega et al., 2021; Umair et al., 2022). This evidence concerns the gene DLL3 and spondylocostal dysostosis.