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.
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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!