Sotos Syndrome

Abstract

This chapter describes Sotos syndrome as a clinical entity characterized, in addition to overgrowth, by distinctive craniofacial manifestations that include macrocephaly, a tall forehead, and an elongated face with pointed chin. This clinical aspect is illustrated by photographs of patients. The differential diagnosis between Sotos and other overgrowth syndromes can be particularly difficult and is therefore described in detail, with the aid of a summary table. The genetic cause and inherent pathogenic mechanisms are clearly delineated. Even though malignancies are reported in less than 1% of patients with Sotos syndrome, this potential risk is not to be disregarded and is the object of a thorough discussion.