SOX5 (Lamb-Shaffer Syndrome)
Below is a summary for the SOX5 gene observed in research publications. This is not meant to take the place of medical advice.
What is Lamb-Shaffer Syndrome?
Lamb-Shaffer Syndrome happens when there are changes to the SOX5 gene. These changes can keep the gene from working as it should.
The SOX5 gene plays a key role in brain development.
Because the SOX5 gene is important in the development and function of brain cells, many people who have Lamb-Shaffer Syndrome have:
- Speech delay
- Behavior issues
- Low muscle tone
- Motor delay
- Developmental delay
- Vision issues
Do people who have Lamb-Shaffer Syndrome look different?
Some people who have Lamb-Shaffer Syndrome have a large forehead.
Research Article Summaries