Walker–Warburg syndrome
| Walker–Warburg syndrome | |
|---|---|
| Other names | HARD syndrome,Warburg syndrome |
| Walker–Warburg syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | Ophthalmology, neurology, medical genetics |
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), is a rare form of autosomal recessive congenital muscular dystrophy. It is associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. This condition has a worldwide distribution. Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide.