Macrocephaly-capillary malformation (M-CM/ MCAP) was formerly known as Macrocephaly-cutis marmorata telangiectatica congenita. It is a multiple congenitial syndrome , which was first described in 1997 and it was renamed as “ Macrocephaly – capillary malformation” in 2007. It is a multiple malformation syndrome which involves body and head overall abnormal growth, abnormalities of skin , vascular abnormalities and neurological problems ( seizures, hypotonia), cortical brain malformations, most distinctively polymicrogyria. This disorder is attributed to PIK3CA gene mutation. Till now, There are only 130 reported cases of M-CM, there are likely many more affected individuals who have been misdiagnosed, are unrecognized or have not been published in the medical literature.

Keywords: Macrocephaly; Neonatal; Congenitial syndrome