COL2A1 and spondyloepiphyseal dysplasia congenita: Spondyloepiphyseal dysplasia congenita (SEDC, OMIM 183900) is a common subtype of the type II collagenopathies, a heterogeneous group of chondrodysplasias resulting from mutations in the collagen type II alpha-1 gene (COL2A1, OMIM 120140) [1].