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Sotos Syndrome

Sotos Syndrome



Overview

Sotos syndrome, also known as cerebral gigantism, is a rare genetic condition that causes children to grow faster than other children their age.

Characteristics of Sotos syndrome include:

Tall stature.

Large head with distinct facial features.

Cognitive impairment (learning disabilities).

Behavioral challenges.

Symptoms

Since Sotos syndrome causes physical overgrowth, children with this diagnosis have some defining characteristics. Physical symptoms of the condition include:

A high forehead.

A long, narrow face.

A pointed chin.

Downward slanting eyes (palpebral fissures).

Increased arm span.

Weak muscle tone (hypotonia).

Tall stature.

Causes

A mutation in the NSD1 gene causes Sotos syndrome. The NSD1 gene gives your body instructions on how to grow and develop. When a mutation affects the NSD1 gene, your genes can’t regulate your body’s growth, causing children diagnosed with Sotos syndrome to be taller than their peers.

Complications

Children diagnosed with Sotos syndrome may have complications including:

Coordination difficulties.

Hearing loss.

Heart and kidney problems.

Scoliosis.

Seizures.

Vision problems.

Treatment is available to address the complications of Sotos syndrome, ensuring that your child lives as happy and as healthy a life as possible.

How does Sotos syndrome affect my child?

Sotos syndrome not only affects your child’s physical development, but it can also affect your child’s central nervous system. The central nervous system is responsible for maintaining the function of your child’s body (spinal cord) and mind (brain).

Since the condition affects your child’s central nervous system, they may face developmental milestone delays during their first few years. Developmental milestones are things that most children can do by a certain age including:

Cognitive skills (how your child learns, thinks and solves problems).

Language development (how your child speaks and responds).

Physical development (how your child perfects their motor skills).

Social and emotional skills (how your child plays and interacts with other people).

Because your child’s central nervous system functions differently due to a genetic mutation, people with Sotos syndrome commonly have issues with cognitive function (intellectual disabilities).

Differences in how your child learns and plays can affect how your child behaves. Behavioral symptoms of Sotos syndrome include:

Anxiety.

Attention-deficit/hyperactivity disorder (ADHD).

Autism spectrum disorder.

Impulsive behaviors.

Socialization difficulties.

Tantrums.

How does Sotos syndrome differ in adults and children?

Children with Sotos syndrome experience physical growth at a rate much higher than their peers of the same age. Children diagnosed with Sotos syndrome will often be taller than other children, but as they grow into adults, their height is no longer an anomaly.

Because of their height differences, children diagnosed with Sotos syndrome often have coordination problems that extend into adulthood if not treated at an early age.

While many people with Sotos have learning problems that can vary widely in severity, not all do. The amount of trouble someone has learning tends to stay the same over the course of their life.

Diagnosis

Diagnosing Sotos syndrome can be challenging because it shares the same symptoms as other common conditions. Your healthcare provider will begin the diagnosis by physically examining your child to look for symptoms of the condition. If indicated, a genetic test will follow the physical examination, where your healthcare provider will take a small sample of blood from your child to look for mutations on the NSD1 gene. If the results show a mutation on the NSD1 gene, your healthcare provider will diagnose your child with the condition. This usually happens during infancy or early childhood.

Treatment

Treatment for Sotos syndrome varies based on the severity of the diagnosis and aims to alleviate symptoms of the condition. Treatment for Sotos syndrome includes:

Educational support (special education program).

Participating in therapy (behavioral, physical, speech).

Taking medications to manage symptoms (ADHD, anxiety).

Using hearing aids.

Wearing a back brace or undergoing surgery for scoliosis.

Wearing glasses.

Early intervention for developmental delays and other symptoms related to Sotos syndrome generally helps children reach their full potential.

Type of Doctor Department : A pediatrician

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