Below is a summary for the SMARCC2 gene observed in research publications. This is not meant to take the place of medical advice.
What is SMARCC2-related syndrome?
SMARCC2-related syndrome happens when there are changes to the SMARCC2 gene. These changes can keep the gene from working as it should.
SMARCC2-related syndrome is similar to other syndromes that are caused by related genetic pathways:
- Coffin-Siris syndrome, which is caused by changes in the genes ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1.
- Nicolaides-Baraitser syndrome, which is caused by changes in the gene SMARCA2.
SMARCC2 plays a key role in how the brain and body develop.
Many people who have SMARCC2-related syndrome have:
- Developmental delay and intellectual disability
- Speech challenges that may be severe
- Low muscle tone
- Feeding difficulties
- Behavioral concerns, such as autism
- Differences in physical appearance
Do people who have SMARCC2-related syndrome look different?
People who have SMARCC2-related syndrome may look different. A study of 15 people who have the syndrome found that appearance varies and can include some but not all of these features:
- Extra body hair (6/15)
- Thick eyebrows and bony ridges above the eyes (6/15)
- Thin upper or thick lower lip (6/15 and 5/15, respectively)
- Upturned nose (6/15)
How many people have SMARCC2-related syndrome?
As of 2019, medical literature had found about 15 people in the world with changes in the SMARCC2 gene.
Learn more about the SMARCC2 gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries