Defective PAPSS2 causes SEMD-PA

Defects in PAPSS2 cause spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA; MIM:612847), a bone disease characterized by epiphyseal dysplasia with mild metaphyseal abnormalities. Clinical features include short stature from birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait and enlarged knee joints. Some patients may manifest premature pubarche and hyperandrogenism.

Summary from Reactome (R-HSA-3560796), read 2026-09-23.