A rare genetic disorder in which the child grows taller compared to their peers is called Sotos syndrome. The most common symptoms of this condition include distinct physical features, problems with cognitive function, and behavioral changes. Moreover, this disorder is also known as cerebral gigantism.
In general, this condition occurs rarely and affects 1 in every 14,000 babies. In most cases, the symptoms of this syndrome are very similar to other diseases. Thus, multiple cases go undiagnosed.
Symptoms
This disorder causes physical overgrowth, which makes the baby have specific characteristics. Check below some physical symptoms:
- Pointed chin
- Palpebral fissures (downward slanting eyes)
- Hypotonia (weak muscle tone)
- Tall stature
- Long and narrow face
- High forehead
- Increased arm span
If you notice that your child has any of the previous symptoms, do not hesitate to contact your doctor.
Causes
Experts have determined that a mutation in the NSD1 gene causes Sotos syndrome. However, they do not know what exactly causes this gene mutation. Normally, the NSD1 gene gives instructions to the body on how to grow and develop. When a mutation occurs, the body receives different instructions, which lead to overgrowth of the body. That’s why people with Sotos syndrome are taller compared to their peers.
Who Does Sotos Syndrome Affect?
This genetic disorder often occurs due to an abnormal gene that mutates during pregnancy. About 95% of all diagnosed Sotos syndrome cases occur due to a new gene mutation in an egg or sperm cell. Furthermore, this genetic mutation occurs randomly.
Sometimes, children can inherit the abnormal gene from their biological parents during pregnancy. There is a 50% chance of inheriting this syndrome if only one parent carries the mutated NSD1 gene.
What Are The Possible Complications of Sotos Syndrome?
People who develop this rare genetic disorder may also experience some complications. Check below some examples:
- Heart and kidney problems
- Hearing loss
- Difficulty with coordination
- Scoliosis
- Seizures
- Vision issues
- Learning disabilities
- Attention-deficit/hyperactivity disorder (ADHD)
- Autism spectrum disorder
- Aggression
- Increased risk of tumors
- Joint hyperlaxity
- Jaundice (yellowing of the eyes and skin)
This document does not contain all possible complications of this syndrome. Moreover, most of the previous complications can be addressed with treatment.
Unfortunately, there is no way to prevent this disorder. However, you can perform some genetic tests before pregnancy to make sure you and your partner do not have this abnormal gene. It is very important to understand the risks of having a child with Sotos syndrome.
Diagnosis
Usually, it is very difficult to diagnose this condition because it shares the symptoms with other health conditions. However, doctors often begin the diagnosis of this condition with a physical examination to check for abnormalities linked to the disease. They may also ask you some questions about your medical history and symptoms to get more clues about this syndrome. If your doctor suspects your child has Sotos syndrome, they can perform a genetic test to check for the abnormal NSD1 gene. This test can be done during infancy or early childhood.
Treatment
The treatment is usually different among people with this syndrome because it depends on the severity of the condition, existing health problems, age, and preferences. Check below some treatments often recommended by doctors for people with Sotos syndrome:
- Antidepressants to manage symptoms of anxiety and ADHD
- Hearing aids
- Glasses to improve vision problems
- A back brace or surgery to treat scoliosis
- Behavioral, physical, and speech therapy
- Special educational program
Early diagnosis and proper treatment significantly reduce the risk of developing severe complications.
Frequently Asked Questions
How does Sotos syndrome affect my child?
While in most cases, this condition negatively affects the child’s physical development, it may also impact the central nervous system. It is responsible for the proper functioning of the body and mind. That’s why children with Sotos syndrome may experience developmental delays in the first years of life. For example, cognitive skills (problems with learning and thinking), language development, physical development (motor skill problems), and social and emotional skills. Furthermore, your child may also experience some behavioral symptoms. These include anxiety, impulsive behaviors, socialization problems, tantrums, ADHD, or autism spectrum disorder.
How does Sotos syndrome differ in adults and children?
While children with this disorder are taller than their peers, in adulthood, height is no longer an anomaly. However, an increased height in childhood usually causes problems with coordination that may last until adulthood without treatment. In addition, not everyone who develops Sotos syndrome will experience learning problems. Most people tend to stay the same throughout their whole life.
When should I go to the ER?
Call 911 or go to the nearest emergency room (ER) if any of the following symptoms occur. Examples include:
In most cases, a seizure lasts between 30 seconds and 2 minutes. If it lasts longer than this range, immediately seek emergency care.
What is the difference between Sotos syndrome and autism spectrum disorder?
While these are different disorders, they share some similar symptoms. Moreover, Sotos syndrome is a genetic disorder that occurs due to a mutated NSD1 gene, but autism spectrum disorder is a neurodevelopmental disease for which, in most cases, it is not possible to determine what causes it. Check below some symptoms that these disorders often share:
- Difficulty paying attention or adjusting to social situations
- Delayed motor skills, coordination, and language development
- Intellectual disabilities
Ask your healthcare provider if you have additional questions.
