Chondrodysplasia (dwarfism) – Chinook, Karelian Bear Dog, Norwegian Elkhound
Chondrodysplasia (dwarfism)
General description
Chondrodysplasia is associated with defects in enchondral ossification and proliferation of cartilage resulting in defects in long bones and dwarfism. Affected animals have shortened and deformed limbs, a large skull, and spine change. Anatomical narrowing of the spinal canal causes spinal stenosis.
Breeds
Chinook, Karelian Bear Dog, Norwegian Elkhound
Order details
| Test number | 8316 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ITGA10 |
| Mutation | G-A |
| Literature | OMIA:001886-9615 |
Detailed description
Chondrodysplasia is a genetical inherited skeletal dysplasia characterized by a disorder of endochondral ossification. In the area of the epiphyseal plates, length growth normally occurs through the constant formation of cartilage and its conversion into bone. This process is disrupted by a genetic variant, resulting in a lack of cartilage proliferation and leading to malformations in the structure of the tubular bones and therefore a short stature.
In addition to shortened limbs, other clinical symptoms of this disease include a large skull, spinal changes and leg deformities. Anatomical narrowing (stenosis) of the spinal canal can also occur, further complicating the condition.
