Abnormal development of facial structures (eyes, forehead, nose, jaws) and skull
Symptoms
Absence of nose, lateral duplication of most derivatives of the maxillary process such as canine teeth, herniation of the meninges and part of the brain through a gap in the skull, ocular degeneration.
Affected kittens were generally born live and require euthanasia as the condition is incompatible with life.
Heterozygous cats show moderate brachycephaly.
Gene involved ALX1
Mutation tested c.496delCTCTCAGGACTG (BHD)
Transmission mode : Autosomal recessive Age of onset : From birth
Publication : Lyons et al. (2016). Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats.