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Brachycephaly (Frontonasal Dysplasia (FND)) is a heterogeneous 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 (Frontonasal Dysplasia (FND)) is a heterogeneous group of disorders affecting face and skull development. In the Burmese cat breed, a severe form of the disease is present. The defect is inherited as an autosomal recessive trait, whereas the heterozygous carriers show a mild brachycephaly.The causal mutation for the disease was identified in the Aristaless-Like Homeobox 1 (ALX1) gene.

Clinical features

Cats affected with Burmese head defect (BHD) or brachycephaly, 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 require euthanasia. Heterozygous carriers show a mild brachycephaly.

Additional information

References

Pubmed ID: 26610632

Omia ID: 1551

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