"MCAP syndrome is related to a unique variety of clinical findings1,2:"
"Common CNS findings include1,2:"
"somatic growth and asymmetry: birth weight, length 2 or more SD above the mean."
"Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterised by early brain overgrowth and body morphogenesis anomalies. It is part of the PIK3CA-related overgrowth spectrum (PROS)."
"Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterised by early brain overgrowth and body morphogenesis anomalies. It is part of the PIK3CA-related overgrowth spectrum (PROS)."
"somatic growth and asymmetry: birth weight, length 2 or more SD above the mean."
"Chiari 1 malformation"
"distal limb anomalies: syndactyly, soft-tissue toe syndactyly, postaxial syndactyly, sandal-gap toes, brachydactyly, broad thumbs and toes, overlapping toes and hypoplastic toenails"
"internal vascular abnormalities: a broad spectrum of internal vascular abnormalities are reported in the literature, involving abdominal, bronchial and heart vasculature"