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Sotos syndrome is an uncommon condition that affects approximately one in fourteen thousand of the population. It is one of several overgrowth
syndromes and is also known as Cerebral Gigantism due to the large head circumference that is associated with the condition.
The following features are typically used to give an initial, clinical diagnosis
- Characteristic facial appearance
- Learning disability
- Childhood overgrowth
- Increased head circumference
In approximately ninety percent of cases, the clinical diagnosis is confirmed using a genetic test to detect an abnormality on the
NSD1 gene. Some individuals may be diagnosed at birth but many others do not receive a diagnosis until well into childhood.
Medical problems that can affect children with Sotos syndrome include
- Congential heart and kidney defects
- Epilepsy
- Scoliosis (curvature of the spine)
- Persistent infections of the urinary and respiratory tracts
Sotos Syndrome is an autosomal dominant condition which means that if either one of the parents has Sotos, there is a fifty percent
chance that each of their children will inherit the condition. The chance of a couple having a second child with Sotos syndrome is
the same as for any other couple (approximately one in fourteen thousand) provided they do not have the syndrome themselves.
Growth Chart
Typical growth chart for Sotos Syndrome.
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Jacob's Story
My Sister and Sotos