Tag archives: chondrodysplasia

For The Veterinarian: The Genetics of Shortened Limbs and the Association with Canine Intervertebral Disc Disease (IVDD)

For The Veterinarian: The Genetics of Shortened Limbs and the Association with Canine Intervertebral Disc Disease (IVDD)

Shortened legs are a major defining feature for some of today’s most popular domestic dog breeds. Although dogs with extreme shortening of the limbs likely come to mind when pondering this trait (such as dachshunds or basset hounds), many other breeds also display a more subtle or moderate limb shortening (e.g. West Highland white terrier, Nova Scotia duck tolling retriever, beagle). Unfortunately, in some breeds, dogs with shortened legs have also been found to be at an increased risk for early-onset intervertebral disc disease (IVDD). However, over the past several years, genetic discoveries and development of genetic testing have made it possible to better understand the short-legged appearance of some dog breeds and the genetic underpinnings which make some of these dogs more likely to develop IVDD.

Shortened Legs and Genetic Link to Intervertebral Disc Disease

Two genetic mutations associated with shorter limb length have been reported in domestic dogs2,4,5. Both mutations consist of a duplicated section of the canine FGF4 gene (called an FGF4-retrogene) which has been inserted into two aberrant locations of the genome; one copy has been inserted into a region on chromosome 12 (CFA12 FGF4 insertion) and the other copy has ...

The Genetics of Shortened Limbs and the Association with Canine Intervertebral Disc Disease (IVDD)

The Genetics of Shortened Limbs and the Association with Canine Intervertebral Disc Disease (IVDD)

Shortened legs are a major defining feature for some of today’s most popular domestic dog breeds. Although dogs with extreme shortening of the limbs likely come to mind when pondering this trait (such as dachshunds or basset hounds), many other breeds also display a more subtle or moderate limb shortening (e.g. West Highland white terrier, Nova Scotia duck tolling retriever, beagle). Unfortunately, in some breeds, dogs with shortened legs have also been found to be at an increased risk for early-onset intervertebral disc disease (IVDD). However, over the past several years, genetic discoveries and development of genetic testing have made it possible to better understand the short-legged appearance of some dog breeds and the genetic underpinnings which make some of these dogs more likely to develop IVDD.

Intervertebral Discs and the Spinal Cord

In order to understand IVDD, we must first understand the role, location, and structure of the intervertebral discs (IVDs) and their anatomical relationship to the spinal cord. IVDs play a crucial role as cartilaginous ‘shock absorbers’ for the spine and allow for spinal flexibility. IVDs are often compared to a ‘jelly doughnut’ sitting between the vertebrae as they are composed of an outer ring of tough fibrous ...