Sotos' syndrome

Sotos’ syndrome is characterized by a distinctive facial appearance (broad, prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, tall chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference ≥2 SD above the mean).

Three clinical features (distinctive facial features, learning disability, and overgrowth) are considered the cardinal features of Sotos’ syndrome.

Sotos syndrome is inherited in an autosomal dominant manner. About 5% of individuals diagnosed with Sotos’ syndrome have an affected parent; approximately 95% of individuals have the disorder as the result of a de novo genetic alteration. Each child of an individual with Sotos’ syndrome has a 50% chance of inheriting the causative genetic alteration.

Management includes referral to appropriate specialists for management of learning disability / speech delays, behavioural findings, cardiac abnormalities, renal anomalies, scoliosis, and seizures. Intervention is not recommended if the brain MRI shows ventricular dilatation without increased intracranial pressure.

Tumours occur in approximately 3% of people with Sotos’ syndrome.

Reference

1. Ocansey S et al. Sotos Syndrome. Gene Reviews. (online) Last updated June 2025