Walker-Warburg syndrome

Disease Overview

Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. Signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. It is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. Most children do not survive beyond the age of three years. It may be caused by mutations in any of several genes including the POMT1, POMT2 and FKRP genes, although in many individuals the genetic cause is unknown. WWS is inherited in an autosomal recessive manner. No specific treatment is available; management is generally supportive and preventive.[3171]

Synonyms

• Hydrocephalus, agyria and retinal dysplasia
• Hard syndrome
• Hard +/- E syndrome
• Warburg syndrome
• Chemke syndrome
• Pagon syndrome
• Cerebroocular dysgenesis
• Cerebroocular dysplasia muscular dystrophy syndrome
• COD-MD syndrome