In the PIK3CA-related overgrowth spectrum (PROS), several body parts grow beyond their normal size due to mutations in the PIK3CA gene. Proteins produced by this gene are involved in regulating cell growth, division, and survival. When a baby is born, these symptoms are usually visible, so doctors can diagnose a PROS condition at birth. In some cases, it occurs later in childhood.
In PROS, there are numerous subtypes, including CLAPO syndrome, CLOVES syndrome, DCMO, DMEG, FAH/FAO/HHML, FAVA, FIL, HMEG, KTS, LON, macrodactyly, MCAP, and muscular hemihyperplasia (HH). There are a wide range of symptoms depending on which part of the body overgrows, including intellectual disability, seizures, and autism when the brain is involved, as well as blood clots when blood vessels are affected.
There is a somatic mutation in the PIK3CA gene that causes PROS. There are many activated mutations in the PI3KCA gene that are linked to different syndromes with some genetic overlap between the different syndromes.
There are several different PROS syndromes, so it is impossible to determine the exact incidence and prevalence rates. These conditions are typically diagnosed at birth or in early childhood.
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