Sotos Syndrome Type 1 and Type 2: Case Series of 4 Pediatric Patients with Variants in NSD1 and NFIX Genes

Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth with macrocephaly, a distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In addition, Sotos-like syndromes are also recognized, including Malan syndrome, known as Sotos syndrome type 2, which is caused by variants encompassing the NFIX gene.

Herein we present a series of 3 pediatric patients diagnosed with Sotos syndrome type 1 and 1 patient with Sotos syndrome type 2 and discuss their genotypes and phenotypes.