Lamb-Shaffer Syndrome is a genetic, neuro-developmental condition with symptoms such as severe expressive speech delay, global developmental delay, gross and fine motor delay, low muscle tone, minor facial abnormalities, vision issues, anxiety, a love of water, and a smile and laugh that could light up a room!! Lamb-Shaffer Syndrome is classified as a mutation, deletion or partial deletion of the SOX5 gene, which is located in the 12th chromosome, specifically 12p12.1, and can only be diagnosed by genetic testing. There are two main types of broad spectrum genetic tests used today: Chromosomal Microarray (CMA) and Whole Exome Sequencing (WES). CMA is only able to detect a deletion of the SOX5 gene but WES is able to detect a mutation, deletion or partial deletion. While CMA can be an effective tool, it is still important to explore WES if no answers are found with CMA!
There is not a lot of information available because there are so few people diagnosed right now! This is why fundraising and awareness is so important to our community! You can help by liking Raising A Rare and Lamb-Shaffer Syndrome, sharing our posts, and supporting our fundraisers anyway you can!