Guillaume Canaud, MD, PhD, of Necker-Enfants Malades Hospital – AP-HP, the Paris Descartes University, provides an overview of PiK3CA-related overgrowth syndrome (PROS) and explains why it is important to regularly measure objective outcomes in persons with this rare disease.
PROS is a group of rare congenital disorders that lead to the overgrowth of parts of the body. PROS is caused by gain of function mutations in the PIK3CA gene. Specific disorders under the umbrella of PROS include fibroadipose hyperplasia, hemihyperplasia multiple lipomatosis (HHML), CLOVES syndrome, macrodactyly, fibroadipose infiltrating lipomatosis, megalencephaly-capillary malformation (MCAP), and dysplastic megalencephaly (DMEG).
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