Aggrecan-related bone disorders are a heterogeneous group of diseases caused by variants in ACAN gene, including spondyloepimetaphyseal dysplasia, aggrecan type (OMIM 612813), macrocephally with multiple epiphyseal dysplasia and distinctive facies (OMIM 607131), spondyloepiphyseal dysplasia, Kimberley type (SEDK; OMIM 608361), familial osteochondritis dissecans (OMIM 165800) and idiopathic short stature. This evidence concerns the gene ACAN and spondyloepiphyseal dysplasia, Kimberley type.