Twenty-four patients from 23 families with mutations in CHST3 were diagnosed with Larsen syndrome (15 families), humero-spinal dysostosis (four cases), chondrodysplasia with multiple dislocations (Megarbane type; two cases), Desbuquois syndrome (one case), and spondyloepiphyseal dysplasia (one case) (Unger et al., 2010). Here, CHST3 is linked to spondyloepiphyseal dysplasia.