Megalencephaly-capillary malformation-polymicrogyria syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Definition
A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
Also known as macrocephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, MCAP, MCM, MCMTC, Megalencephaly-Capillary Malformation, megalencephaly-capillary malformation syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, megalencephaly-cutis marmorata telangiectatica congenita syndrome — per MONDO