Sotos syndrome

Sotos Syndrome

Sotos syndrome (pronunciation: /ˈsoʊtoʊz ˈsɪndroʊm/), also known as cerebral gigantism, is a rare genetic disorder characterized by excessive physical growth during the first few years of life. The syndrome was first described in 1964 by the American physician Juan Sotos.

Etymology

The term "Sotos syndrome" is derived from the name of the physician who first described the condition, Dr. Juan Sotos. The term "cerebral gigantism" refers to the characteristic overgrowth of the body and the brain associated with the condition.

Symptoms

Sotos syndrome is characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Common symptoms include a disproportionately large and long head, a prominent forehead, down-slanting eyes, and a pointed chin.

Causes

Sotos syndrome is caused by mutations in the NSD1 gene. This gene provides instructions for making a protein that is involved in normal growth and development. The exact role of the NSD1 gene in these processes is not yet fully understood.

Diagnosis

Diagnosis of Sotos syndrome is based on the distinctive physical features and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the NSD1 gene.

Treatment

There is no cure for Sotos syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for specific symptoms such as heart or kidney problems.

Related Terms

• Genetic disorder
• NSD1 gene
• Physical therapy
• Special education

External links

• Medical encyclopedia article on Sotos syndrome
• Wikipedia's article - Sotos syndrome

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