Genetic Test
In relation to chondrodystrophy (CDDY), the most commonly reported genetic variation is the retrotransposed copy (retrogene) of the FGF4 (Fibroblast Growth Factor 4) gene.
Specifically, the FGF4-related retrogene located on chromosome 12 is closely associated with premature calcification and degeneration of the nucleus pulposus within intervertebral discs.
Dogs carrying this mutation experience early loss of normal disc function, resulting in diminished shock absorption and an increased risk of intervertebral disc disease (IVDD).
Recent studies suggest an FGF4-related mutation on chromosome 18 mainly affects limb length, but the variant linked to CDDY is limited to chromosome 12.
Genetic testing can identify carriers, who have a higher risk of developing disc disease and therefore require careful management.
Disease Description
Chondrodystrophy in dogs is a hereditary condition characterized by abnormal development of growth plates (physes) in the bones, leading to shortened limbs and early calcification of the nucleus pulposus.
This premature calcification accelerates degeneration of the intervertebral discs, increasing the risk of intervertebral disc herniation (IVDH).
Affected breeds typically have long bodies with short legs.
The accelerated disc degeneration makes discs prone to herniation during normal activity or minor trauma, causing spinal cord compression.
If untreated, clinical signs such as gait abnormalities, paralysis, pain, and urinary incontinence may rapidly worsen, potentially resulting in severe disability or the need for euthanasia.
