label: Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome
label_lc: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities syndrome
description: "A disorder caused by mutation(s) in the PIK3CA gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform. It is characterized by mixed capillary, lymphatic, venous, and arteriovenous vascular malformations, segmental progressive overgrowth of subcutaneous, muscular, and visceral fibroadipose tissue with skeletal overgrowth."