Sotos syndrome can cause a child to grow more rapidly than their peers. They are taller and have a larger head circumference, developmental delays, and a distinctive facial appearance during childhood. It is a rare genetic disorder.
This article examines Sotos syndrome, its symptoms, causes, diagnosis, and treatment. We also look at current research, where to find support, related disorders, and the outlook for the condition.
Sotos syndrome is a genetic disorder
Children with Sotos syndrome may have distinctive facial features, including:
- a prominent and high forehead
- reddened cheeks
- narrow, long face
- pointed chin
- downward slanted eyes
The facial features are typically most noticeable during childhood, and children with Sotos syndrome are generally taller than peers and siblings.
Some people also refer to the condition as:
- Sotos sequence
- cerebral gigantism
- distinctive facial features
- excessive physical growth in childhood
- delayed social, cognitive, and motor development
Other symptoms of Sotos syndrome can vary between people and may include:
- large hands and feet
- abnormal distance between the eyes
- mild cognitive impairment
- low muscle tone
- speech impairment
- awkward gait
- irritability and aggression
The primary cause of Sotos syndrome is mutations in the NSD1 gene. This gene is responsible for helping make a protein that attaches to DNA and gives chromosomes their shapes. The NSD1 protein controls the activity of the genes responsible for development and growth.
Experts do not know exactly how a reduced amount of the NSD1 protein causes excessive physical growth and learning disabilities. However, they are aware that changes in the NSD1 protein disrupt the usual activity of growth and development genes.
Sotos syndrome occurs in one in 10,000 to 14,000 newborn babies, although doctors do not correctly diagnose the condition in some cases and often attribute the symptoms to other conditions.
Because of this, the true incidence of Sotos syndrome might be closer to 1 in 5,000.
A healthcare professional may suspect a child has Sotos syndrome based on the distinctive physical signs of the condition.
To diagnose the condition, a doctor
A pediatrician will check in with children with Sotos syndrome regularly and monitor their health closely. People with severe health complications may require closer monitoring and intervention.
To treat Sotos syndrome, a doctor will refer the patient to specialists for management of the various symptoms, such as
Researchers are undertaking
Research into specific mutations and disruptions in the specific genes involved in Sotos syndrome may help predict and develop an effective treatment.
People can find support for Sotos syndrome at:
- March of Dimes: March of Dimes is an organization that supports mothers and babies, provides education, supports research, and leads programs for families.
- Sotos Syndrome Support Association (SSSA): The SSSA is a non-profit organization comprised of genetic counselors, physicians, families, and healthcare agencies throughout the United States.
- The Arc of the United States: The Arc of the United States aims to protect and promote the rights of people with intellectual and developmental disabilities.
People with Sotos syndrome often also have related disorders, which include:
Sotos syndrome is
The initial physical symptoms of Sotos syndrome typically resolve after the first few years of life, as a child’s rate of growth levels out.
A person’s developmental delays can improve during school-age years, and adults with the syndrome may be in the average range of height and intellect, although problems with coordination may persist.
Sotos syndrome is a genetic disorder
Mutations in specific genes cause Sotos syndrome. There is no specific treatment for Sotos syndrome, and doctors may refer people with the condition to specialists to treat specific symptoms.
The initial symptoms of the disorder typically improve during school-age years, and in adulthood, people with the disorder are generally of average height. Developmental delays can also improve.