Megalencephaly-capillary malformation-polymicrogyria syndrome is characterized by a spectrum of anomalies that include primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia affecting to the skin, subcutaneous tissue and joints, and cortical brain malformations, among which polymicrogyria stands out.
It is caused by somatic mutations in the PIK3CA gene.
