NSD1

Parents

General information

Sotos syndrome is characterised by the clinical triad of increased growth (height and / or head circumference), a variable learning disability and a distinctive facial appearance.

The condition is caused by an alteration (we call this a mutation) within a gene called NSD1.

Sotos syndrome is an autosomal dominant condition which means that affected individuals have a 50% chance of passing on the NSD1 gene mutation and therefore Sotos syndrome to their children.

However, the severity of presentation is not always the same in each generation and individuals within the same family can be both mildly or severely affected.

Sotos syndrome is rare with current prevalence estimates of approximately 1 in 14 000.