The p.Arg275Cys mutation in the COL2A1 gene has been previously reported to manifest as spondyloepiphyseal dysplasia congenita (SEDC), spondyloarthritis, early-onset osteoarthritis (EO-OA), and Czech dysplasia (Hoornaert et al., 2006). Here, COL2A1 is linked to spondyloepiphyseal dysplasia congenita.