Below is a summary for the SOX11 gene observed in research publications. This is not meant to take the place of medical advice.
What is SOX11 Syndrome?
SOX11-related syndrome happens when there are changes to the SOX11 gene. These changes can keep the gene from working as it should. This syndrome is also known as Coffin-Siris syndrome type 9.
The SOX11 gene plays a key role in the growth of brain cells.
Because the SOX11 gene is important in the development and function of brain cells, many people who have SOX11-related syndrome have:
- Small head size, also known as microcephaly
- Intellectual disability
- Speech delay
- Slow growth
- Changes to the fingers and toes, such as underdeveloped nails
- Certain facial features, such as a wide mouth and thick lips
People who have changes in the SOX11 gene may have a condition called Coffin-Siris syndrome type 9, or CSS9. Coffin-Siris syndrome is caused by changes in several different genes: ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SOX4, and SOX11.
There is overlap among the symptoms of each type of Coffin-Siris syndrome. Please see the Coffin-Siris syndrome gene guide for more information. People who have SOX11-related syndrome typically have intellectual disability and may or may not have changes in physical appearance.
Do people who have SOX11- syndrome look different?
People who have SOX11-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Wide mouth
- Thick lips
- Small head size, also called microcephaly
- Curved fingers or an underdeveloped fifth finger
- Webbed toes
Speech delay is common.
Developmental delay is common.
Some people have autism.
Research Article Summaries