Till now, PAPSS2 was known to cause SEMD, Pakistani type/Brachyolmia with main clinical characteristics of disproportionate short stature, short spine, kyphosis, scoliosis, enlarged knee joints, bowed legs, irregular epiphyses, narrow carpal space, and mild brachydactyly (Ahmad et al., 1998; Bownass et al., 2019; Miyake et al., 2012; Noordam et al., 2009; Tuysuz et al., 2013). Here, PAPSS2 is linked to brachyolmia.