Think about your favorite garden. Whether it’s your own backyard or a beautiful botanical garden you visited on vacation, the plants grow in a controlled, balanced manner. Imagine if something disrupted this balance, causing some plants to grow disproportionately compared to the others. In essence, this unregulated growth is the root cause of both the changed garden and this week’s Zebra, PIK3CA-related overgrowth spectrum.
The cause of overgrowth is mutations in the PIK3CA gene that helps regulate cell growth, division, and survival. Just as the garden can overgrow in many different ways, there are many manifestations of the same root cause and therefore many genetic disorders that fall in the PIK3CA-related overgrowth spectrum.
One of the subtype disorders on the spectrum is CLOVES Syndrome which is an acronym for Congenital Lipomatous (fatty) Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/Skeletal/Spinal anomalies. There are only 150-200 documented cases worldwide. These syndromes are typically diagnosed at birth or in early childhood.
To learn more about the different types of genetic disorders in PIK3CA-related Overgrowth Spectrum and their potential treatments, watch the dedicated Osmosis video on YouTube and Osmosis.org.
