Among these, Malan syndrome (MIM# 614753, also called Sotos-2 syndrome), due to mutations in NFIX, is characterized by an overlap of the facial phenotype with NSD1-positive Sotos syndrome (now called Sotos-1), including prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin (217, 218). Here, NSD1 is linked to Sotos syndrome.