What is Sotos Syndrome

Sotos Syndrome, also known as cerebral gigantism, is a rare genetic disorder characterized by excessive physical growth during the early years of life. It is named after the pediatrician Juan Sotos, who first described the condition in 1964.

Symptoms: Individuals with Sotos Syndrome typically exhibit distinctive facial features, such as a long face, prominent forehead, and a pointed chin. They may also experience developmental delays, learning disabilities, and speech impairments. Overgrowth is a key characteristic, with affected individuals often surpassing average height and weight percentiles for their age group.

Cause: Sotos Syndrome is primarily caused by mutations in the NSD1 gene, responsible for regulating growth and development. However, in some cases, the exact cause remains unknown.

Treatment: While there is no cure for Sotos Syndrome, treatment focuses on managing the associated symptoms and supporting the individual's development. This may involve early intervention programs, speech therapy, occupational therapy, and educational support tailored to the specific needs of the affected person.

Prognosis: The long-term outlook for individuals with Sotos Syndrome varies depending on the severity of symptoms. With appropriate care and support, many individuals with Sotos Syndrome can lead fulfilling lives and achieve their full potential.