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What Is Sotos Syndrome?
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first two to three years of life. The disorder may be accompanied by mild mental retardation; delayed motor, cognitive and social development; hypotonia (low muscle tone); and speech impairments. 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. 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) and down-slanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability also may occur. Although most cases of Sotos syndrome occur sporadically, familial cases also have been reported.
Is There Any Treatment?
There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.
What Is the Prognosis?
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; however, coordination problems may persist into adulthood.
The National Institute of Neurological Disorders and Stroke, a part of the National Institutes of Health, supports and conducts a wide range of studies that focus on identifying and learning more about the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as Sotos syndrome.