ACAN and spondyloepiphyseal dysplasia: Heterozygous mutations in ACAN can lead to spondyloepiphyseal dysplasia, Kimberley type (MIM #608361), or osteochondritis dissecans (MIM #165800), which was consistent with the clinical findings of the 10 patients in our cohort, presenting as mild midface hypoplasia, short neck, thoracic deformity, spine malformation, short fingers/toes, short metacarpal bones, internal rotation of the elbow (contrast to cubitus valgus), and café-au-lait spots, and none of them complained of bone or joint pain.