Walker-Warburg syndrome (Warburg syndrome, HARD ± E syndrome)

Abstract

Walker-Warburg syndrome is a lethal autosomal recessive disorder of brain development and organisation leading to hydrocephalus, ocular abnormalities, and in some cases occipital encephalocele. Warburg reviewed published reports on hydrocephalus and retinal non-attachment. Pagon et al introduced the memonic HARD ± E for hydrocephalus, agyria, and retinal dysplasia with or without encephalocele, but later proposed the name Warburg syndrome.