Disease overview

Holoprosencephaly is a disorder characterized by the incomplete division of the prosencephalon, a portion of the fetal brain. This results in a single lobed brain where there should be two lobes, which causes neurologic and facial defects. Ventriculomegaly and interhemispheric cysts are also hallmarks of this disease. Most affected cats are also hydrocephalic. Holoprosencephaly and its accompanying neurological characteristics are present in Toyger breed cats, which are selectively bred for their ear phenotype.

Gene name

GDF7

Inheritance

Autosomal recessive

Signs and symptoms

Affected cats have small rounded ear pinnae and doming of the head. Clinical signs of holoprosencephaly vary greatly, depending on the severity of the disease. In some cases, kittens will appear asymptomatic or have neurologic difficulties such as ataxia and tremors. In more severe cases, kittens can be stillborn.

How is it diagnosed

Diagnosis will be based on clinical signs suggestive of a neurologic disease. For definitive diagnosis, an MRI or necropsy must be completed.

Breeds at higher risk

Oriental-derived breeds, specifically

Citations

https://pubmed.ncbi.nlm.nih.gov/32575532/ https://pubmed.ncbi.nlm.nih.gov/26846816/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.