Below is a summary for the MEF2C gene observed in research publications. This is not meant to take the place of medical advice.
What is MEF2C-related syndrome?
MEF2C-related syndrome happens when there are changes to the MEF2C gene. These changes can keep the gene from working as it should.
The MEF2C gene is important for muscle and brain cells.
Because the MEF2C gene is important in the development and function of brain cells, many people who have MEF2C-related syndrome have:
- Intellectual disability
- Speech difficulties or no speech
- Delayed walking
- Autism or features of autism
Do people who have MEF2C-related syndrome look different?
People who have MEF2C-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Broad forehead
- Prominent ear lobes
- Tented upper lip
Seizures during infancy or childhood are common. This can include different types of seizures.
Some people show features of autism, such as poor eye contact.
Most people have intellectual disability, which is often severe.
Learn more about MEF2C and connect with other Simons Searchlight families with the resources below.
Research Article Summaries