Sotos syndrome is also known as cerebral gigantism and Sotos sequence. It’s a rare genetic disorder that affects children and adults. It causes excessive growth during childhood and behavioral symptoms throughout life.
Sotos syndrome is a rare genetic disorder that causes excessive growth, especially in childhood.
Children with Sotos syndrome may have several health problems related to this overgrowth that require ongoing care. Sotos syndrome often causes behavioral symptoms like autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and others.
There’s no cure for this genetic disorder, but some of the symptoms can be treated. Sotos syndrome usually isn’t life threatening.
Sotos syndrome, also called cerebral gigantism, is a rare genetic disorder. It’s caused by changes in the NSD1 gene on chromosome 5. These changes may happen randomly or may be passed on from either parent.
Individuals with Sotos syndrome have distinctive characteristics like:
- characteristic facial features
- rapid growth during childhood
- large size
- learning disabilities or delayed development
- movement delays
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 (macrosomia)
- growing quickly after birth
- jaundice
- poor feeding
In children, such symptoms include:
- being taller and bigger than peers of the same age
- characteristic facial features such as:
- large and long head
- protruding forehead
- small and pointed chin
- increased distance between the eyes (hypertelorism)
- downward-slanting eyes
- red or flushed cheeks
- large hands and feet
- weak muscle tone (hypotonia)
- 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:
- learning disabilities
- delayed development
- behavioral problems
- speech and language problems such as:
- stutter
- monotone voice
- problems with sound production
- aggressiveness and irritability
- clumsiness
- motor skill problems
- neurodevelopmental and psychiatric conditions such as:
Sotos syndrome is generally diagnosed in childhood. In general, adults with Sotos syndrome are usually basically healthy and in the average range for weight and height, but they may have other symptoms that are different from children with Sotos syndrome.
As people with Sotos syndrome age, they may have an increased risk of developing tumors and cancer. Adults may also continue to have coordination and motor skill problems. Intellectual disabilities present in childhood generally persist and remain stable in adulthood.
Other symptoms adults with Sotos syndrome may experience include lymphedema
- lymphedema
- dental health problems
- shortening or hardening of muscles or tendons of the joints that may cause deformity (contractures)
- tremors
- hearing loss
- infertility
Sotos syndrome is a genetic disorder caused by a mutation in the NSD1 gene. In
If you have Sotos syndrome, there is a 50% chance of passing it on to your offspring, however.
Sotos syndrome occurs in
Sotos syndrome can be diagnosed in babies and children. It’s not a typical 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.
Diagnosis of Sotos syndrome includes:
- a physical exam
- collecting a medical history
- imaging studies like X-rays, CT scans, and MRI scans to rule out other medical problems
- genetic testing to 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 child’s doctor can recommend behavioral and other types of therapy that may help.
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.
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 with Sotos syndrome can be in the average range for height, weight, and intellect. Thus, they can lead fulfilling lives.
What is the life expectancy of Sotos syndrome?
Since Sotos syndrome is not life threatening, individuals with it generally live a typical lifespan.
Is Sotos syndrome a form of autism?
Sotos syndrome is not a form of autism, but both conditions can have similar symptoms.
People with Sotos syndrome may also have autism. The main difference between the conditions is that autism does not affect growth, and Sotos syndrome does.
Sotos syndrome is a rare genetic disorder that affects both children and adults. It causes excessive growth in childhood and other developmental and health problems.
Sotos syndrome often causes many symptoms such as autism, ADHD, behavioral concerns, and others.
While Sotos syndrome isn’t life threatening, there’s no cure. There are treatment options for many of the symptoms.