KIF22 and spondyloepimetaphyseal dysplasia, matrilin-3 type: ,38,43,80 Joint laxity—along with short stature, limb malalignment, and spinal deformity—is a hallmark feature of spondyloepimetaphyseal dysplasia with joint laxity type 2 (MIM: 603546) and autosomal-dominant disorder caused by mutations in the 16p11.2 gene KIF22 (MIM: 603213) that often leads to early-onset arthrosis.226