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 our full SOX5 Gene Guide

The online Gene Guide includes more information about SOX5 such as the chance of having another child with this condition, behavior and development concerns linked to SOX5-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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.

Key Role

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

How many people have SOX5-related syndrome?

As of 2019, fewer than 150 people in the world with changes in the SOX5 gene had been described in the medical literature. The first case of SOX5related syndrome was described in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for Lamb-Shaffer Syndrome.


Research Article Summaries

We currently do not have any article summaries for Lamb-Shaffer Syndrome but we add resources to our website as they become available.

The information available about Lamb-Shaffer Syndrome is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SOX5 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SOX5 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

We do not currently have any stories from Lamb-Shaffer Syndrome families.

Click here to share your family’s story!