Chondrodysplasia (Dwarfism)
Kodas: H356
Short description
Disproportionate Short-Limbed Chondrodysplasia is a developmental disorder of the skeleton that results in disproportionate dwarfism.
General information
Disproportionate Short-Limbed Chondrodysplasia is a developmental disorder of the skeleton that results in disproportionate dwarfism. The specific variant of the disorder analysed in this test is found in the Karelian Bear Dog and the Norwegian Elkhound Grey. It is caused by a recessive mutation to the gene ITGA10.
Specifications
| Breeds | |
|---|---|
| Gene | ITGA10 |
| Chromosome | 17 |
| Mutation | c.2083C>T |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Dogs affected with chondrodysplasia suffer from disproportionate short stature dwarfism of varying severity.
Radiographic changes included flaring and increased width of the distal metaphyses of the radius and ulna, delayed ossification of the cuboid bones of the carpus, and reduction in length of the vertebral bodies.
References
Pubmed ID: 24086591
Year published: 2013
Omia ID: 1886
Omia variant ID:
Turnaround information
- 10 working days