This month’s featured illness is Sotos Syndrome! Sotos Syndrome is a rare genetic disorder that occurs when there is a mutation in the NSD1 gene located in the chromosonme 5q35.2-q35.3. This is for Sotos syndrome 1, which affects 80-90% of patients with it. Sotos syndrome 2 has recently been found to be an abnormality in the NFIX gene on chromosome 19p13.3.
Sotos syndrome is characterized by excessive growth in the first years of life, a large, elongated head, advanced bone age, intellectual disability/neurologic disorder (non-progressive), and distinctive facial configuration. Newborns can present with jaundice, difficulty feeding and low muscle tone. Other symptoms such as hearing loss or heart defects may occur, but are less common.
As previously mentioned, Sotos is caused by an abnormality in genes. This is a dominant genetic condition, which means that only a single copy of an abnormal gene is necessary for the appearance of the condition. It can be inherited from either parent, or it can be the result of a gene change in an individual.
Sotos syndrome affects males and females equally, and it doesn’t matter what ethnic group you are in, or where you live in the world.
A Sotos diagnosis is based on clinical grounds. If the individual has the most common characteristics, possibly some less common ones along with it, a professional may diagnose it. This can be confirmed with a DNA analysis.
Treatment for Sotos may involve many specialists depending on the way the disorder presents itself in the individual. Physical therapy, occupational therapy, eye exams, ultrasounds, etc. are the most common preventative methods to progression/developmental delays.
If you or someone you know is battling Sotos syndrome, keep Fighting H.A.R.D.! You are not alone!