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NEWLY DIAGNOSED?
Join our Facebook Group!
We know being diagnosed with a rare genetic condition can be overwhelming, but we're here to help! Please join our Parent and Caregiver Support Group on Facebook. To ensure privacy, this group is only open to immediate caregivers and parents. Other family members can join the Family Support Group!
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Information Database
Please CLICK HERE to register your child in our database. This helps us understand more about Lamb-Shaffer Syndrome and provide the most up to date information to the research team at the Children's Hospital of Philadelphia!
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Check out the Lamb-Shaffer Syndrome Awareness page. This is where we post updates on research and other information!
Check out Raising A Rare's Facebook page. This is the non-profit organization that works to raise money to pay for the research being done at the Children's Hospital of Philadelphia on Lamb-Shaffer Syndrome!
Lamb-Shaffer Syndrome is a rare genetic condition.
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, vision issues, mild facial abnormalities, a love of water, and a smile and laugh that could light up a room!
There are currently only about 500 people in the world diagnosed with this syndrome, but we KNOW there are more. Diagnosis of LSS can only be accurately made with the whole exome sequencing genetic test.
WHAT IS LAMB-SHAFFER SYNDROME?