Disproportionate Dwarfism – Dalmatian
Kodas: H149
Short description
Disproportionate Dwarfism is a skeletal disorder affecting limb development in Dalmatian dogs.
General information
Disproportionate Dwarfism is a skeletal disorder affecting limb development in Dalmatian dogs. The condition results in shortened limbs relative to the body, while the torso and head remain normally proportioned. It is caused by a mutation in the PRKG2 gene and follows an autosomal recessive inheritance pattern. The disorder has been observed in the Dalmatian breed.
Specifications
| Breeds | |
|---|---|
| Gene | PRKG2 |
| Chromosome | 32 |
| Mutation | c.1601T>G |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Signs typically appear around 2 to 3 months of age, as growth of the long bones becomes visibly disrupted. Affected puppies may develop abnormally short and sometimes curved forelimbs, often resulting in a distinctive gait and joint incongruities. While the condition itself is not usually painful, it can lead to reduced mobility or osteoarthritis (degenerative joint disease, DJD) later in life due to altered limb structure. In severe cases, where quality of life is significantly compromised, euthanasia may be considered.
References
Pubmed ID: Unpublished from Uppsala University, Sweden
Year published: 2025
Omia ID: Not Available
Omia variant ID:
Turnaround information
- 10 working days