Disease overview

When two copies of the mutated ALX1 gene are present in an individual, this results in a condition called Burmese Head Defect, characterized by the improper formation of the skull and face. Burmese Head Defect is incompatible with life. When a cat inherits just one mutated ALX1 copy, this results in a shortened face phenotype, known as brachycephaly.

Gene name

ALX1

Inheritance

Autosomal co-dominant

Signs and symptoms

A malformed face and skull are the hallmarks of this disease. Frequently kittens born with Burmese Head Defect are stillborn or die shortly after birth. If a cat is born with one copy of this gene, they will have a flatter face and smaller nose.

How is it diagnosed

This condition is diagnosed based on the physical appearance of the kittens at or near birth.

Breeds at higher risk

and related breeds

Citations

10.1016/j.ydbio.2015.11.015

Disclaimer

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