Core features | Supportive features | Secondary features |
---|---|---|
(1) Early overgrowth (brain > somatic tissue) progressive megalencephaly | Selective brain overgrowth (ventriculomegaly, cerebellar tonsillar ectopia, abnormally thick cospus callosum); congenital somatic overgrowth, somatic or cranial asymmetry | Hypotonia Developmental delay Seizures |
(2) Developmental vascular disorders capillary malformations (midline face and body) | Infantile hemangiomas, venous aneurysms, aberrant vasculature | |
(3) Distal limb anomalies (syndactily) | Polydactyly, Sandal-gap toes | |
(4) Cortical brain malformations (polymicrogyria) | ||
(5) Connective tissue dysplasia (skin hyperelasticity, joint ipermobility, thick doughy subcutaneous tissue) |