Walker-Warburg syndrome

Walker-Warburg syndrome, also called Warburg syndrome, Chemke syndrome, HARD syndrome or cerebroocular dysgenesis, is a rare autosomal recessive form of congenital muscular dystrophy that also malforms the brain and the eyes. Babies are born with generalized low muscle tone, weakness, developmental delay and sometimes seizures. The brain findings include lissencephaly, hydrocephalus and cerebellar malformations, and about half of affected children have an encephalocele, a gap in the skull through which the meninges protrude. The eyes are often abnormally small with retinal abnormalities. The disorder is linked to faulty glycosylation of alpha-dystroglycan, and mutations in more than a dozen genes, among them POMT1, POMT2, POMGNT1 and FKTN, have been implicated. It is estimated to affect about 1 in 60,500 newborns worldwide. Care is supportive only, and most affected children die in the first months of life, almost all by the age of three. The syndrome is named for Arthur Earl Walker and Mette Warburg.