Sotos syndrome
Sotos syndrome
Definition
Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
Also known as cerebral gigantism, cerebral gigantism syndrome, chromosome 5q35 deletion syndrome, NSD1 Sotos syndrome, Sotos syndrome, Sotos syndrome 1, Sotos syndrome caused by mutation in NSD1, Sotos syndrome type 1, Sotos' syndrome — per MONDO