Table1 (abstract A26). Diagnostic Criteria for MCAP: core feature (1) plus either (2) or (3)
Core Features | Supportive Features | Secondary Features |
|---|---|---|
(1) Early overgrowth (brain > somatic tissue) progressive megalencephaly | Selective brain overgrowth (e.g. ventriculomegaly); Congenital somatic overgrowth Somatic or cranial asymmetry | Hypotonia Frontal blossing or dolichocephaly Seizures Developmental delay |
(2) Developmental vascular disorders capillary malformations (midline face or body widespread) | Infantile hemangiomas, venous aneurysms, aberrant vasculature | Â |
(3) Distal limb anomalies (syndactily) | Polydactyly, Sandal-gap toes | Â |
(4) Cortical brain malformations (polymicrogyria) | Â | Seizures Developmental delay |
(5) Connective tissue dysplasia | Â | Hypotonia |