Although, the enrolled subjects during the present study who are suffering from Brachyolmia are carrying a different mutations (c.1037 G > C, p. R346P) than just the mutation that was reported by Bownass et al. [18], but they share a similar phenotype (the subjects had short stature with a reduced trunk size with relative long upper extremities) as the mutations were harboring the same gene: PAPSS2. The gene discussed is PAPSS2; the disease is brachyolmia.