Sotos syndrome, also known as cerebral gigantism, is a rare genetic disorder characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age.
Although most cases of Sotos syndrome occur sporadically (meaning they are not inherited), familial cases have also been reported. Incidence is approximately 1 in 14,000 births.
Symptoms of the disorder, which vary among individuals, include:
- A disproportionately large and long head with a slightly protrusive forehead
- Large hands and feet
- Hypertelorism – an abnormally increased distance between the eyes
- Down-slanting eyes
The disorder is often accompanied by:
- Mild mental retardation
- Delayed motor, cognitive, and social development
- Hypotonia – low muscle tone
- Speech impairments
- An awkward gait
- Unusual aggressiveness or irritability
Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect and height. However, coordination problems may persist into adulthood.
There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.