Lamb-Shaffer Syndrome ‚Äč

2017 lamb-shaffer syndrome meet up

Meet Addison

Our mission is to provide genetic and clinical research for the SOX5 gene and Lamb-Shaffer Syndrome. Through research we will learn how to treat our patients best, what therapies are best and provide families with a peace of mind that their child has a path for the future. 




Our Mission

newly diagnosed

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Meet Gwennie

Meet our founders

Click on a picture below to read about our families journeys. 


In June of 2018, parents of the Lamb-Shaffer Syndrome community decided to have our first ever Lamb-Shaffer Syndrome Awareness month. This will be an annual campaign to raise awareness about our syndrome, raise money for research, and put a spotlight on our amazing community. 

Lamb-Shaffer Syndrome is classified as a mutation, deletion or partial deletion of the SOX5 gene located in the 12th chromosome. The most common symptoms of Lamb-Shaffer Syndrome are, but not limited to, significant speech delay, hypotonia, gross motor delay, fine motor delay, global developmental delay and vision issues. There are currently less than 100 people in the world diagnosed with this syndrome, we know there are more. If you think you might know someone with Lamb-Shaffer Syndrome, please find us on Facebook or e-mail us. The Lamb-Shaffer Syndrome Organization was created to raise money to continue research of the SOX5 gene and Lamb-Shaffer Syndrome. 

Has your loved one recently been diagnosed with Lamb-Shaffer Syndrome? Please click the link below to learn more about our community, where you can find us, and what we are up to. You are not alone and you are now apart of a community of individuals just like you. Welcome!

Genetic research is currently being done at The Children's Hospital of Philadelphia. In addition, there is also a clinical study being done in France. Please click the link below for all updates for both studies. 

Megan Yockey

Co-Founder of The Lamb-Shaffer Syndrome Organization.



Meet Bella

June of 2018 was the first ever Lamb-Shaffer Syndrome Awareness Month. 

On October 7, 2017 8 families from all over the world came together in Baltimore, MD to meet for the first time. Please watch our video to see our kids and watch a group of strangers who turned into a family because of a common gene. 

Meghan Yarnall 

Co-Founder of The Lamb-Shaffer Syndrome Organization.