Soto’s Syndrome: Causes, Symptoms, Diagnosis, Treatment, Prevention and Complications

Children with a rare genetic condition known as Sotos syndrome, sometimes known as cerebral gigantism, grow faster than typical children their age.

Sotos syndrome characteristics include the following:

• Tall stature.
• Big head and distinct facial features.
• Cognitive impairment (difficulties in learning).
• Behavioural issues.

What Are The Causes Of Sotos Syndrome?

The Sotos syndrome is caused by a mutation in the NSD1 gene. The NSD1 gene instructs your body on how to grow and develop. Children with Sotos syndrome are taller than their classmates because of a mutation that affects the NSD1 gene, which stops your genes from controlling how big your body develops.

Symptoms Of Sotos Syndrome

Since Sotos syndrome causes physical enlargement, children with the condition have certain distinctive characteristics. The physical manifestations of the sickness include the following:

• A raised eyebrow.
• A long, narrow face.
• A sharp, pointed chin.
• Palpebral fissures are downward-tilting eyeballs.
• A widened arm's length.
• Hypotonia is the lack of muscular tone.
• Tall stature.

Sotos syndrome can influence a child's physical development as well as their central nervous system. Your child's central nervous system, including their brain and spinal cord, keeps them both healthy.

Because of the central nervous system issue, your child may not meet developmental milestones on time in their early years. Activities that most children can do by a given age are known as developmental milestones. Examples of these skills include:

• Cognitive skills: the ability of your youngster to reason, learn, and solve problems.
• Your child's ability to respond and communicate is referred to as language development.
• Physical development is the process by which your child's motor abilities improve.
• The way your child interacts with others and plays are examples of their social and emotional aptitude.

A genetic mutation that alters the method by which the central nervous system functions often results in cognitive dysfunction, or intellectual disability, in people with Sotos syndrome.

Using different methods for play and learning could affect your child's behaviour. Among the Sotos syndrome's behavioural indicators are:

• Anxiety.
• Attention Deficit/Hyperactivity 
• Autism spectrum condition.
• Unanticipated behaviours.
• Socialisation difficulties.
• Breakdowns.

Also Read: Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention

How is Sotos syndrome Diagnosed?

Diagnosing Sotos syndrome can be challenging because its symptoms are similar to those of other common disorders. Your child will be evaluated by your healthcare provider to rule out any symptoms before a diagnosis is made. Your child will undergo a genetic test following the physical examination if required, in which your doctor will take a small blood sample to look for mutations in the NSD1 gene. If a mutation on the NSD1 gene is found in the test findings, your child's physician will make the diagnosis. 

Treatment Of Sotos Syndrome

Reducing symptoms is the aim of treatment for Sotos syndrome, with various approaches employed based on the degree of diagnosis. Treatments for Sotos syndrome include:

• Support for education (special education programme).
• Engaging in behavioural, physical, or speech treatment.
• Medicating symptoms (such as anxiety or ADHD).
• Portable audio devices.
• Wearing a brace on your back or undergoing scoliosis surgery.
• Putting on eyewear.

When developmental delays and other symptoms of Sotos syndrome are treated early, most children reach their full potential.

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Prevention Of Sotos Syndrome

Most cases of Sotos syndrome cannot be prevented. It's a rare disease caused by an unintentional genetic mutation. If you have Sotos syndrome or plan to get pregnant, talk to your doctor about genetic testing to find out how likely it is that your unborn child will have a genetic condition.

Complications Of Soto’s Syndrome

When a kid is diagnosed with Sotos syndrome, potential complications can include:

• Coordination problems.
• Hearing loss.
• Cardiac and renal problems.
• Bending the back.
• Convulsions
• Problems with the eyes.

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