Below is a summary for the NSD1 gene observed in research publications. This is not meant to take the place of medical advice.
What is NSD1-related syndrome?
NSD1-related syndrome happens when there are changes to the NSD1 gene. These changes can keep the gene from working as it should. NSD1-related syndrome is also called Sotos syndrome.
The NSD1 gene plays a key role in the basic function of the cell.
Because the NSD1 gene is important in the development and function of brain cells, many people who have NSD1-related syndrome have:
- Developmental delay and intellectual disability
- Large head size
- Tall height
- Noticeable forehead and long skull
Do people who have NSD1-related syndrome look different?
People who have NSD1-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Noticeable forehead
- Long narrow face and chin
- Thinning hair in the front
- Red cheeks, also called malar flushing
Most people with NSD-1 related syndrome have some level of intellectual disability, which can range from mild to severe.
Behavior issues are common and can include autism, aggression and phobias, or fears.
Research Article Summaries