Disease_Mapped_To_Gene Pediatric Endocrinology Terminology Cellosaurus Disease Terminology Childhood Cancer Predisposition Study Terminology CCPS Disease Terminology Syndrome NFIX Gene Rare Non-Neoplastic Disorder Sotos Syndrome C75019 An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay. An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay. Sotos_Syndrome Cellosaurus Sotos' Syndrome Sotos Syndrome CCPS Sotos Syndrome Cerebral Gigantism Syndrome Disease or Syndrome NICHD C0175695 NSD1 Gene NICHD Terminology Neonatal Research Network Terminology