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Brachycephaly, also known as Frontonasal Dysplasia (FND), is a broad group of disorders affecting face and skull development.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Brachycephaly, also known as Frontonasal Dysplasia (FND), is a broad group of disorders affecting face and skull development. In the Burmese cat, a form of the disorder known as Burmese Head Defect (BHD) has been observed. The causal mutation for the disease was identified in the Aristaless-Like Homeobox 1 (ALX1) gene. The mutation inherits in a co-dominant manner.
Carriers for the mutation display a milder form of brachycephaly (shortened skull), with short, flat muzzles. As this phenotype has become a distinctive feature of the “contemporary” or American Burmese, the Burmese Head Defect mutation is common among these cats.
Clinical features
Cats affected with BHD show 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 are typically euthanized on humane grounds.
Heterozygous carriers show a mild brachycephaly, with a round, wide head and a flattened muzzle.
Additional information
References
Pubmed ID: 26610632
Omia ID: 2717
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