What causes Sotos syndrome?
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.
What are the symptoms of Sotos syndrome?
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.
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What are the physical complications of Sotos syndrome?
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.
