Abnormalities in COL2A1 can cause several heritable diseases, such as achondrogenesis type II (ACG2) (OMIM #200610), hypochondrogenesis, platyspondylic dysplasia (the Torrance type), spondyloepiphyseal dysplasia congenita (SEDC), spondyloepimetaphyseal dysplasia (SEMD) (Strudwick type), Kniest dysplasia, Stickler syndrome, and spondyloperipheral dysplasia1. Here, COL2A1 is linked to spondyloepiphyseal dysplasia congenita.