In humans, the gene mutations lead to specific groups of disorders referred to variably as spondylocostal dysostosis and spondylothoracic dysostosis, and now primarily as the spondylocostal dysostoses (SCDO); these are: DLL3 (SCDO1), MESP2 (SCDO2), LFNG (SCDO3), HES7 (SCDO4), TBX6 (SCDO5), RIPPLY2 (SCDO6), and DLL1 (SCDO7) [Table 1 (aii) with articles included in References]. The gene discussed is TBX6; the disease is spondylocostal dysostosis 5.