Also referred to as cerebral gigantism and 5q35 deletion syndrome, an inherited overgrowth disorder characterized by distinctive craniofacial features, overgrowth (macrocephaly, tall stature, acromegaly, increased bone age), and intellectual impairment which ranges from mild to severe. Other associations include hearing impairment, jaundice, seizures, hypotonia, congenital heart disease, atrioventricular conduction defects, renal anomalies, scoliosis, poor coordination, joint hypermobility, and joint contractures. Additionally, aggressiveness and other behavior problems are common.

Multiple specialists may be consulted for speech, hearing, vision, behavior, hypotonia, seizures, cardiac, renal, or spinal (scoliosis) problems. Behavioral strategies and medication have been employed for management of aggressive behavior, tantrums, anxiety, and attention deficit disorder. As intellectual ability varies greatly in Sotos syndrome, an appropriate learning environment can be sought for the child through consultation with an education specialist.