Clinical Characteristics

Sotos syndrome is characterised by increased growth (height and /or head circumference) in association with a learning disability and a distinctive, but subtle facial appearance.

The increased growth is of prenatal onset and babies are frequently described as being long at birth.

The associated intellectual disability is variable but most commonly in the moderate range.

The characteristic facial appearance is most evident in early childhood: the head is dolicocephalic and individuals have down slanting palpebral fissures, the cheeks are flushed, the hairline high and there is bi-temporal narrowing. In older ages the chin becomes taller and more prominent.

Other clinical features associated with Sotos syndrome include joint laxity, kyphoscoliosis (~33%), neonatal issues (~70%, including poor feeding, hypotonia and jaundice), cardiac anomalies (~20%), renal anomalies (~25%, particularly vesico-ureteric reflux) and seizures (~21%).