Walker-Warburg Syndrome

**Definition:** Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.

**Tree numbers:** - C10.500.507.450.499.249.500 - C11.270.881 - C16.131.666.507.450.499.249.500 - C16.320.577.750

**Synonyms:** - Cerebroocular Dysplasia-Muscular Dystrophy Syndrome - Chemke Syndrome - COD-MD Syndrome - HARD Syndrome - Hydrocephalus, Agyria, And Retinal Dysplasia - Pagon Syndrome - Warburg Syndrome