In addition, mutations in the aggrecan coding genes, such as ACAN or AGC1, are responsible for Spondyloepimetaphyseal dysplasia (SEMD), osteochondritis dissecans with early and severe onset of osteoarthritis in humans, and a variety of short-stature syndromes with rapid bone maturation. Here, ACAN is linked to spondyloepimetaphyseal dysplasia.