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Disproportionate Dwarfism is a developmental disorder of the skeleton, which causes stunted growth and changes the body’s proportions.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Disproportionate Dwarfism is a developmental disorder of the skeleton, which causes stunted growth and changes the body’s proportions. The variant of dwarfism analysed in this test, found in the Dogo Argentino, is caused by a recessive mutation to the gene PRKG2.
Clinical features
Affected puppies develop skeletal deformities that become apparent within the first few months of life. These abnormalities can include shortened limbs, carpus valgus (outward rotation of the forelimbs), hip dysplasia, and a shortened skull and neck. The stunted skeleton can cause gait abnormalities and lameness, and orthopaedic surgery may be required to correct the worst deformities.
Additional information
References
Pubmed ID: 34680883
Omia ID: 1485