Hydrocephalus (Waterhead)
Hydrocephalus is a developmental disorder affecting Friesian horses, often resulting in stillbirth of affected foals and dystocia in dams. The medical condition is known as hydrocephalus, which roots from the Greek word hydro- meaning 'water' and Cephalus meaning 'head', is characterized by an abnormal build-up of cerebrospinal fluid (CSF)
This causes increased intracranial pressure inside the skull and may cause progressive enlargement of the head. Hydrocephalus also has been associated with dystocia in dams and can eventually lead to fatal complications for the dam at parturition. Affected foals are often stillborn or are euthanized at birth to facilitate parturition.
A nonsense mutation in the B3GALNT2 gene is found to be associated with the occurrence of hydrocephalus in Friesian horses.
The mutation follows an autosomal recessive pattern of inheritance.
