WWS: Walker Warburg Syndrome

 

Objective:
Walker-Warburg Syndrome (WWS) has been also referred as “Muscular dystrophy-dystroglycanopathy type A” (MDDGA) or “Cerebro-ocular dysplasia-muscular dystrophy” (COD-MD) or “hydrocephalus, agyria and retinal dysplasia” (HARD) syndromes, is a rare form of congenital muscular dystrophy that is also characterised by ocular manifestations, cerebral malformations, developmental delay and sometimes other organ manifestations.

WWS can be suspected via routine ultrasound and/or fetal MRI during pregnancy and confirmed at or shortly after birth. The prognosis is poor and most of the cases don’t live past infancy