Sotos syndrome and differential diagnosis [33 genes]

Sotos syndrome is a genetic disorder characterized by excessive growth, distinct facial features, and developmental difficulties. Affected individuals usually show a prominent forehead, long narrow face, pointed chin, and down-slanting eyes. Overgrowth and a large cranial perimeter are common during childhood, although size is usually normalized in adulthood.

Variable degrees of intellectual disability and neurodevelopmental disorders, such as autism, ADHD, or speech and language difficulties, are often associated. Cardiac and renal abnormalities, scoliosis, seizures, and hypotonia can also occur.

Prevalence at birth is estimated at 1:14,000 (ORPHA:821).

Genetic testing for Sotos syndrome allows confirming the clinical diagnosis (distinguishing it from other overgrowth syndromes with similar clinical features), offering guidance for medical management and clinical follow-up, and providing genetic information to families for the purposes of counseling about risk of recurrence and reproductive options.

Service indicated upon suspicion of the disease.