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Sotos Syndrome

Sotos Syndrome. Cerebral Gigantism . What is It?.

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Sotos Syndrome

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  1. Sotos Syndrome Cerebral Gigantism

  2. What is It? Sotos Syndrome is a rare genetic disorder that causes extreme amounts of growth during the first few years of life. Its scientific name is Cerebral Gigantism. Mainly Slovaks (Ukrainians, Serbian, Turkish, Albanians), Mandarins (Chinese, Mongolians, Tibetans), and Eastern Afrikaans (Cameroon, Ivory Coast, Sudanese) are the ethnic races that inherit Sotos Syndrome. There have been cases of Sotos Syndrome in many countries, but all cases have been traced to the three main ethnicities listed.

  3. Symptoms The symptoms of Sotos Syndrome start at birth and are obvious. Its characterized by being taller, bigger, and having a bulging forehead (Macrocelphaly) at birth. The signs of the disorder vary, but common symptoms are large heads with a protruding forehead, large hands and feet, hypertelorism (increased space between the eyes), down slanting eyes, an awkward gait, clumsiness, irritability, and aggressiveness.

  4. Inheritance and Diagnosis The disease happens in 1 out 10,ooo to 14,ooo births. Most people who have the syndrome grow into functional adults; except for a small 2% of children affected by the syndrome acquire tumors within the first 5 years. Sotos Syndrome causes children to be very susceptible to disease. Sotos Syndrome doesn’t affect life expectancy. It can’t be diagnosed through Karyotyping or following a family’s Genotype. There is no known genetic cause. Doctors are only able to diagnose people with the syndrome, through identifying relevant physical and genetic characteristics. Doctors can diagnose babies with it at birth. To this point there is no laboratory test conducted to prove that a child or adult has Sotos Syndrome.

  5. Is There a Cure There is no known cure or treatment for Sotos Syndrome. There are “Sotos Groups” in Europe and the U.S. to offer group counseling. It is impossible to tell whether a couple with one “sotos child” would have a second one with the syndrome. Genetic counseling is also an option, but because of the lack of genetic research or evidence, it’s not going to accurately diagnose the cause or progression of the syndrome.

  6. facts Interesting Facts More interesting Facts • Declared as Sotos Syndrome in July of 1964 in the New England Journal of Medicine • Most people with Sotos Syndrome go undetected in the normal population • The growth defects are very noticeable at birth but start to be less obvious as you grow up. • Estimated that people with the disease have a lower IQ in the range of 20 to 120. • Slight mental retardation is an affect of Sotos Syndrome.

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