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There are currently only about 500 people IN THE WORLD diagnosed with this syndrome, but we KNOW there are more. Many people with Lamb-Shaffer Syndrome were initially misdiagnosed with Autism. While many of the symptoms of the two diagnosis are the same, Lamb-Shaffer Syndrome is not considered an Autism Spectrum Disorder. Learn more here.

 

Diagnosis of Lamb-Shaffer Syndrome can only be accurately made with the Whole Exome Sequencing genetic test. 

Lamb-Shaffer Syndrome is classified as a mutation, deletion or partial deletion of the SOX5 gene, which is 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! 

 

Other tests, such as Chromosomal Microarray (CMA), can detect deletions and partial deletions, however, if a CMA does not produce results, more testing with Whole Exome Sequencing is needed. 

Research is currently being conducted at the Children's Hospital of Philadelphia to help us better understand the SOX5 gene and how people with Lamb-Shaffer Syndrome are affected. Learn more about the research here!

WHAT IS LAMB-SHAFFER SYNDROME?

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