What is Lamb-Shaffer Syndrome?
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 made with the whole exome sequencing genetic test.