What is Sotos Syndrome?

6. Diagnosis

Doctors typically make a diagnosis of Sotos syndrome when a child is in infancy or a toddler. Some skilled and experienced pediatricians may pick up on craniofacial abnormalities during infant well-visits, but it may take symptoms years to become pronounced enough to arouse suspicion. Early signs include excessive growth and difficulty meeting developmental milestones. Initial testing involves a thorough medical history and physical exam. CT scans, MRIs, and x-rays can rule out other conditions. If the doctor suspects Sotos syndrome, he or she may do genetic testing.