/Sotos syndrome

Sotos syndrome

Rare Disease

MONDO:0019349

Also Known As

NSD1 Sotos syndromeSotos syndromeSotos syndrome 1Sotos syndrome caused by mutation in NSD1Sotos syndrome type 1Sotos' syndromecerebral gigantismcerebral gigantism syndromechromosome 5q35 deletion syndromeSOTOS1distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development

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.