Test Detail

Skeletal dysplasia of the British Shorthair (SKD) is a hereditary disorder of bone development described in this breed. It affects the growth of the axial and/or appendicular skeleton and produces conformational abnormalities of variable severity, ranging from disproportionate short stature to deformities that compromise mobility and welfare. It is a rare disease and of recent characterisation.

Associated with the British Shorthair according to the test catalogue. No reliable published carrier frequencies: limited data. The compact conformation of the breed may mask mild cases, making estimation difficult.

- Test British Shorthair breeding animals, especially in lines with a history of kittens with abnormal growth.\n- Do not mate two carriers.\n- A carrier can be mated to a clear animal and the offspring intended for breeding tested.\n- In kittens with short stature or deformities, document with radiographs and consult the laboratory before repeating the mating.\n- Radiographic monitoring of breeding animals with extreme conformation.

Differentiate from Scottish Fold osteochondrodysplasia (never mate two folds together), from Munchkin achondroplasia (a deliberate trait with its own risks), from nutritional rickets in growing kittens and from feline mucopolysaccharidoses. Radiographic assessment by a veterinary radiologist guides the diagnosis. Vertebral malformations may cause spinal cord compression and progressive paraparesis (OMIA002485-9685; Rudd Garces 2021). Confirmed cases should be reported to the breed club.

1. Rudd Garces G et al. (2021) LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia. Genes (Basel) 12:1918. PMID: 34946872
2. OMIA:002485-9685 — Skeletal dysplasia, LTBP3-related in Felis catus (domestic cat).
3. Robinson's Genetics for Cat Breeders and Veterinarians (4.ª ed.) — anomalías congénitas del esqueleto en el gato (contexto).