Sotos syndrome

What is Sotos syndrome?

Sotos syndrome is a genetic disorder characterized by excessive growth in individuals with the syndrome.

This excessive growth usually begins in infancy (but prenatal cases have been documented) and lasts through adolescence. It is often accompanied by advanced bone age.

The syndrome occurs in 1 in 14,000 live births and affects males and females similarly.

What gene changes cause Sotos syndrome?

In 90% of cases, the syndrome occurs due to mutations in the NSD1 gene. Although further research suggests mutations in the NFIX and APC2 gene may also be contributing causes.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Sotos syndrome?

The main symptoms of Sotos syndrome may vary between individuals and may also vary in the extent of their severity.

The syndrome's typical facial characteristics include a large head, long, narrow face, and a high forehead. Flushed cheeks and a pointed chin and widely spaced eyes, a high palate, and receding hairline are common features of the syndrome.

Other potential symptoms include congenital heart defects, although they are rarely severe, seizures, and scoliosis in 40% of cases.

Intellectual disability and developmental delay are also common among individuals diagnosed with the syndrome, particularly speech delay.

Balance and mobility issues are also common symptoms.

How does someone get tested for Sotos syndrome?

The initial testing for Sotos syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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