Sotos' syndrome

Sotos' syndrome is a rare genetic disorder characterized by excessive physical growth during the first few years of life. Children with Sotos' syndrome often have a distinctive facial appearance, advanced bone age, and developmental and intellectual disabilities. The syndrome was first described in 1964 by the American physician Juan Sotos.

Characteristics

Children with Sotos' syndrome often have a distinctive facial appearance, including a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures).

Other common features include large hands and feet, hyperactivity, a lack of coordination, and impaired social skills. Some people with Sotos' syndrome have heart or kidney defects.

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 NSD1 protein is a type of enzyme called a histone methyltransferase that is involved in the regulation of gene expression.

Diagnosis

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

Treatment

There is no cure for Sotos' syndrome, but treatment can help manage the symptoms. This may include physical therapy for motor skills development, special education programs for intellectual disabilities, and medication for hyperactivity.

Prognosis

The prognosis for individuals with Sotos' syndrome varies. Some individuals have normal intelligence and a normal lifespan, while others may have severe intellectual disability and associated health problems.

See also

• Genetic disorder
• NSD1
• Juan Sotos

NIH genetic and rare disease info

• NIH info on Sotos' syndrome

Sotos' syndrome is a rare disease.

Sotos' syndrome Resources
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