For example, homozygous or compound heterozygous variants of the ACAN gene could cause spondyloepimetaphyseal dysplasia (SEMD); on the other hand, heterozygous variants could induce spondyloepiphyseal dysplasia Kimberley type (SEDK), familial osteochondritis dissecans, and idiopathic short stature (ISS), with or without mild skeletal dysplasia and advanced bone age (2, 3). The gene discussed is ACAN; the disease is spondyloepiphyseal dysplasia, Kimberley type.