PAPSS2 and spondyloepimetaphyseal dysplasia, matrilin-3 type: Spondyloepimetaphyseal dysplasia of the Pakistani type that is characterized by a short stature at birth, short-bowed lower limbs, mild brachydactyly, kyphoscoliosis, enlarged knee joints, and early-onset degenerative joint disease of the hands and knees, is caused by homozygous mutations in PAPSS2 (Table 5; Ahmad et al., 1998; Tüysüz et al., 2013).