A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with excessive skull size, and variable mental impairment. Its incidence at birth is estimated to be 1/14,000.

Clinic

• Overgrowth is evident throughout life, especially in childhood.
• Skull size is often striking and disproportionate to height.
• Distinctive facial appearance is most easily noticed in early childhood (long narrow face, flushed cheeks, prominent forehead with lack of frontal hair, downward slanting eyelid gap, large distance between the two eyeballs, high arched palate and pointed chin).
• Sotos syndrome is associated with a wide range of behavioral disorders as well as mild to severe intellectual disability.
• Developmental milestones are often delayed.

Diagnostic methods

Diagnosis is based mainly on clinical signs (characteristic facial features, learning disability and overgrowth). It can be confirmed by genetic testing.

Management and treatment

There is no specific treatment for the syndrome. Management of Sotos syndrome requires a multidisciplinary (multifaceted) approach.

Prognosis

Sotos syndrome shows a wide spectrum of mental disorders, from fully independent to fully dependent. Affected individuals are usually healthy with few medical problems.