Both of the COL2A1 mutations that we identified (p.Gly1176Val and p.Gly1179Arg) were in suspected MED patients (ESDN-00283 and ESDN-00050) in whom there was limited clinical information and radiographic images in which to make an unambiguous diagnosis (Table 5). Here, COL2A1 is linked to multiple epiphyseal dysplasia.