EP074: Atypical presentation of a patient with Sotos syndrome with later onset overgrowth, mandibular hypoplasia, and cleft palate

Abstract

Sotos Syndrome is an overgrowth syndrome caused by pathogenic variants or deletions in NSD1 gene. Its typically characterized by overgrowth of prenatal onset with average birth length above 95%ile, distinctive dysmorphic features, and learning disability. Major systemic features include behavioral problems, cardiac abnormalities, musculoskeletal abnormalities including scoliosis and joints hyperlaxity, and cranial imaging abnormalities and seizures. Otolaryngological complications have been very rarely reported.