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Sotos Syndrome is a rare genetic condition that causes physical overgrowth during the first two to three years. It was first described in 1964 and is primarily classified as an overgrowth syndrome. Children with the syndrome are taller, heavier and have larger heads than children who don’t have the syndrome. Sotos Syndrome causes delayed motor, cognitive and social development.
Sotos Syndrome is caused by mutations in the NSD1 gene. The NSD1 gene provides instructions for making a protein that is involved in normal growth and development. Patients with the NSD1 mutation are clinically classified as having “classical Sotos”.
Sotos Syndrome is strongly associated with the bones developing and maturing more quickly. Children with the disorder will have intellectual impairment and behavioral problems. Behavioral problems include Attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums and impulsive behaviors.
Symptoms of Sotos Syndrome include a disproportioned large head, long head with protrusive forehead, large hands and feet, hypertelorism (an abnormal increased distance between the eyes), down slanting eyes, clumsiness, awkward gait, unusual aggressiveness and irritability. Other signs and symptoms include abnormal side-to-side curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing loss and vision problems. Some infants may experience jaundice and poor feeding.
A small percentage of those who develop Sotos Syndrome will also develop cancer during childhood. There is no single form of cancer associated with the syndrome. Sotos Syndrome occurs in 1 in 10,000 to 14,000 newborns. Many cases are not diagnosed so this may put the numbers closer to 1 in 5,000.
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