SOTOS SYNDROME

WHAT IS IT

• is an overgrowth condition characterized by cardinal features - excessive growth during childhood - macrocephaly - distinctive facial gestalt - various degrees of learning difficulty etc.

How they look like

Forehead is large and rounded. Their eyes have a downward slant at the corners.The roof of the mouth is high.Extremmities may appear large. Rosy coloring over the cheeks and nose.

Origin
The four diagnostic criteria were established in 1994 by Cole & Hughes, based on the systematic assessment of 41 typical cases: overgrowth with advanced bone age, macrocephaly, characteristic facial appearance, and learning difficulties.

Treatment
There is no standard course of treatment for Sotos syndrome.
- behavioral therapy
-occupational/ physical therapy

NSD1

Mutations in the NSD1 gene are the primary cause of the syndrome.The gene provides instructions for making a protein that functions as a histone methyltransferase.

Cancer
A few people with Sotos have developed cancer, but no single form of cancer occurs most frequently with this condition. It remains uncertain Sotos increases the risk of specific types of cancer. If they had it is only slightly greater than others.