Below is a summary for the SOX5 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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.
SPEECH and BEHAVIOR
8 out of 9 had speech delay.
5 out of 9 had behavior issues, including autism.
Many people had some level of intellectual disability, ranging from mild to severe.
Two-thirds of people who had SOX5-related syndrome had crossed eyes.
Research Article Summaries