Some studies have identified ACAN mutations among patients with syndromic short stature conditions such as spondyloepiphyseal dysplasia, Kimberley type, short stature with early-onset osteoarthritis and/or osteochondritis dissecans [28–30]; short stature might be the most obvious manifestation of ACAN mutations [26]. The gene discussed is ACAN; the disease is spondyloepiphyseal dysplasia.