Abnormalities in the COL2A1 gene can induce severe heritable diseases, such as achondrogenesis type II, hypochondrogenesis (OMIM #200610), platyspondylic dysplasia (OMIM #151210) [6,7,8], spondyloepiphyseal dysplasia (SED) (OMIM #183900, OMIM #156550) [9,10,11], spondyloepiphyseal dysplasia congenita (SEDC) (OMIM #183900) [12,13], Kniest dysplasia (OMIM #156550) [14,15,16], spondyloperipheral dysplasia (OMIM #271700) [17,18,19], and Stickler syndrome (OMIM #108300) [20,21,22,23,24]. This evidence concerns the gene COL2A1 and spondyloepiphyseal dysplasia.