What You Should Know About Sotos Syndrome

Medically reviewed by Karen Gill, MD on August 15, 2017Written by Lana Bandoim on August 15, 2017

Overview

Sotos syndrome is also known as cerebral gigantism and Sotos sequence. It’s a genetic disorder that affects children. Sotos syndrome causes overgrowth during the early years of a child’s life.

Children with Sotos syndrome may have several health problems and require ongoing care. There’s no cure for this genetic disorder, but some of the symptoms can be treated. Sotos syndrome usually isn’t life-threatening.

Symptoms of Sotos syndrome

The symptoms of this syndrome are mainly related to excessive growth during the early years of a child’s life.

Physical and physiological symptoms of Sotos syndrome in babies include:

  • being a large baby at birth
  • growing quickly after birth
  • jaundice
  • poor feeding

In children, such symptoms include:

  • being taller and bigger than peers of the same age
  • large head
  • large hands and feet
  • long and narrow face
  • high forehead
  • red or flushed cheeks
  • small and pointy chin
  • weak muscle tone
  • down-slanting eyes
  • hypertelorism, which means having a large distance between the eyes
  • awkward gait, or way of walking
  • scoliosis
  • seizures
  • hearing loss
  • kidney and heart problems
  • vision problems

Mental and developmental symptoms of Sotos syndrome in children include:

Sotos syndrome in adults

When compared to their peers, adults with Sotos syndrome are usually in the normal weight and height range (though they’re often still considered tall). They may also be within normal range for intellect.

Sotos syndrome may raise the risk of tumors and cancer in adults. Adults may also continue to have coordination and motor skill problems. Intellectual disabilities present in childhood generally persist and remain stable in adulthood.

Causes of Sotos syndrome

Sotos syndrome is a genetic disorder. It’s caused by a mutation in the NSD1 gene. In 95 percent of all cases, the mutation isn’t inherited from the child’s parents.

If you have Sotos syndrome, there is a 50 percent chance of passing it on to your offspring, however.

Risk factors of this condition

Sotos syndrome occurs in 1 out of 14,000 births. This condition is more common among people who are Japanese or of Japanese heritage.

Other risk factors are unknown at this time. It’s not clear what causes the mutation in the NSD1 gene or how to prevent it.

Diagnosing Sotos syndrome

Sotos syndrome can be diagnosed in babies and children. It’s not a normal part of the newborn screening process in hospitals, however. Instead, doctors test for it after noticing the symptoms. It may take months or several years for the symptoms to trigger a doctor to test for the disorder.

Your doctor will begin by doing a physical exam and collecting your child’s medical history. They will discuss the symptoms and examine your child. They may also recommend X-rays, CT scans, and MRI scans to rule out the possibility of other medical problems.

A genetic test is part of the diagnosis process for Sotos syndrome. The test will check for a mutation in the NSD1 gene.

It’s common for children with Sotos syndrome to receive a diagnosis of autism spectrum disorder. Your doctor can recommend behavioral and other types of therapy that may help.

Treatment options for Sotos syndrome

There’s no cure or one specific treatment for Sotos syndrome. Instead, treatment focuses on treating the symptoms.

Treatment options include:

  • behavioral or occupational therapy
  • speech therapy
  • counseling
  • medications to manage ADHD, irritability, or aggressiveness
  • hearing aids for hearing loss
  • glasses to correct vision problems

Other treatments may be necessary if you develop medical problems related to Sotos syndrome. For example, you may need regular heart and kidney exams. In addition, the risk of tumors and cancer may be higher, so regular screening may be necessary.

A special diet isn’t required for Sotos syndrome, but it’s important that children and adults eat a well-balanced and healthy diet.

Outlook for Sotos syndrome

Sotos syndrome isn’t a life-threatening condition. It’s a genetic disorder that’s caused by a mutation in the NSD1 gene.

The main characteristics of this condition are overgrowth in children and intellectual disability. Most people are diagnosed with Sotos syndrome as babies or young children.

Once they stop growing, adults can be in the normal range for height, weight, and intellect. Adults can lead fulfilling lives with Sotos syndrome.

CMS Id: 130252