Below is a summary for the SON gene observed in research publications. This is not meant to take the place of medical advice.
What is SON-related Syndrome?
SON-related syndrome happens when there are changes to the SON gene. These changes can keep the gene from working as it should.
The SON gene helps to control different processes inside the cell.
Because the SON gene is important in the development and function of brain cells, many people who have SON-related syndrome have:
- Intellectual disability or developmental delay
- Changes in the structure of the brain
- Vision issues
- Changes to the muscles and skeleton
Do people who have SON-related syndrome look different?
People who have SON-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Facial asymmetry, meaning one half of the face is not the mirror image of the other
- Low-set ears
- Deep-set eyes
- Horizontal eyebrows
- Wide nasal bridge
Research Article Summaries