Below is a summary for the SMARCA4 gene observed in research publications. This is not meant to take the place of medical advice.
What is Coffin-Siris syndrome?
Coffin-Siris syndrome happens when there are changes in one of several genes, including ARID1A, ARID1B, SMARCA2, SMARCA4 , SMARCB1, SMARCE1, and SOX11. These changes can keep the genes from working as they should.
The genes linked to Coffin-Siris syndrome each provide instructions for making one piece of a very important structure inside the cell, called the SWI/SNF protein complex. This structure helps to control other genes during development.
Because these genes are important in development, many people who have Coffin-Siris syndrome have:
- Changes in physical appearance
- Intellectual disability
- Motor delays
- Language impairments
Do people who have Coffin-Siris syndrome look different?
People who have Coffin-Siris syndrome may look different. Appearance can vary and can include some but not all of these features:
- Skeleton: Certain fingers and toes, most often the fifth finger and toe, may be unusually short. In some people, the inner forearm bone, or radius, may be out of place at the elbow. The connection between the hip and thighbones may be misshaped. Some people may have very small or absent kneecaps.
- Facial features: Some people have unusually large or small heads, a wide mouth with full lips, a broad nasal tip, a low nasal bridge, and a long vertical groove between the nose and the upper lip.
- Other features may include thick eyebrows, long eyelashes, and excessive hair growth, also called hypertrichosis, except on the scalp where hair tends to be thin.
Learn more about SMARCA4 (previously known as BAF190)and connect with other Simons Searchlight families with the resources below.
Research Article Summaries