Hydrocephalus

LABOKLIN Service ID: 8501

Hydrocephalus in Friesian Horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. Hydrocephalus (from Greek hydro-, meaning "water", and kephalos, meaning "head") is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the brain. 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 B3GALNT2 is concordant with hydrocephalus in Friesian Horses, which has an autosomal recessive mode of inheritance.

Method	sequencing
Breed list	Friesian horse
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab