PROS
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see CLOVE(S)
Acronym for PIK3CA-Related Overgrowth Sndrome
A general term that covers hypertrophic syndromes due to tissue malformations caused by somatic mutations (usually mosaic) of the PIK3CA gene (3q26.32).
This includes:
- FAO, an acronym for FibroAdipose Overgrowth,
- HHML, an acronym for HemiHyperplasia-Multiple Lipomatosis,
- DMEG, an acronym for Dysplastic MEGaencephaly,
- MCAP, acronym for Megalencephaly-CAPillary malformation")
- CLOVES (see this term)
- some macrodactylies