Phenotype: Burmese head defect (BHD), or congenital frontonasal dysplasia, is characterized by improper development and subsequent malformation of the skull and facial features. Kittens with BHD may be stillborn or born live, but kittens born live cannot survive for long and require euthanasia.
Mode of Inheritance: Autosomal co-dominant
Alleles: N = Normal/Unaffected, BHD= Burmese head defect
Breeds appropriate for testing: Australian Mist, Bombay, Burmese, Burmilla, European Burmese, Tonkinese
Explanation of Results:
- Cats with N/N genoytpe will not have Burmese head defect and cannot transmit this BHD variant to any of their offspring.
- Cats with N/BHD genotype may have shortened facial structure (brachycephaly), but will not have Burmese head defect. They will transmit this BHD variant to 50% of their offspring. Matings between two N/BHD genotype cats are predicted to produce 25% kittens with Burmese head defect.
- Cats with BHD/BHD genotype will have Burmese head defect, a severe craniofacial defect that is incompatible with life.