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 VSports最新版本.
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Since Sotos syndrome causes physical overgrowth, children with this diagnosis have some defining characteristics. Physical symptoms of the condition include: V体育平台登录.
Children diagnosed with Sotos syndrome may have complications including:
Treatment is available to address the complications of Sotos syndrome, ensuring that your child lives as happy and as healthy a life as possible.
Sotos syndrome not only affects your child’s physical development, but it can also affect your child’s central nervous system VSports在线直播. 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 V体育2025版. Developmental milestones are things that most children can do by a certain age including:.
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:
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.
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.
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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:
Early intervention for developmental delays and other symptoms related to Sotos syndrome generally helps children reach their full potential.
Sotos syndrome is a lifelong condition and there is no cure. The condition often times does not have any life-threatening side effects and the outlook for a child diagnosed with Sotos syndrome is positive, with a normal life expectancy. Your child may experience symptoms from the genetic condition, but treatments and therapies are available to minimize them as much as possible. Your child’s healthcare provider will work with you to address any concerns.
There is no way to prevent most cases of Sotos syndrome. It’s a rare condition caused by a genetic mutation that happens unexpectedly. If you have Sotos syndrome, or if you plan on becoming pregnant, talk with your healthcare provider about genetic testing to assess your risk of having a child with a genetic condition.
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You should visit your child’s healthcare provider if you notice your child:
If your child has Sotos syndrome and experiences a seizure, you should visit the emergency room. Seizures are a severe complication of Sotos syndrome. A seizure occurs when your child:
Seizures normally last between 30 seconds and two minutes. Any seizure lasting more than five minutes is a medical emergency, so call 911 immediately.
Sotos syndrome and autism spectrum disorder (ASD) are different conditions. But they both have some of the same symptoms, which could lead to a misdiagnosis. Sotos syndrome is a genetic condition caused by a gene mutation and ASD is a neurodevelopmental condition, which many times has an unknown cause. However, people with Sotos syndrome have a higher chance of developing ASD than people without Sotos syndrome.
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Both Sotos syndrome and autism spectrum disorder share some similar symptoms, including:
The main difference between the two conditions is that Sotos syndrome also affects growth whereas autism spectrum disorder doesn’t. Children diagnosed with Sotos syndrome grow more and faster than their peers of the same age, are taller and have distinct facial characteristics.
While a rare genetic diagnosis for your child may be overwhelming, Sotos syndrome is most often not a life-threatening condition. Your child will be able to reach their full potential with love and support from their caregivers. If you plan on becoming pregnant, discuss genetic testing with your healthcare provider to assess your risks of having a child with a genetic condition.
As your child grows, you need healthcare providers by your side to guide you through each step. Cleveland Clinic Children’s is there with care you can trust.
Last reviewed on 12/14/2021.
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