Disease overview

Disproportionate Dwarfism is caused by a mutation in the gene responsible for a protein that regulates chondrocyte differentiation. Chondrocytes are the cells responsible for cartilage, which is an important component of bone development. The growth plates of affected dogs close prematurely, leading to disproportionate growth.

Gene name

PRKG2

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs become evident around 2 months of age. Abnormalities in development include limb shortening and increased angular deformities. These may lead to an abnormal gait, muscle atrophy, and lameness.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Radiographs and other laboratory tests may be indicated. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Rudd Garces G, Turba ME, Muracchini M, Diana A, Jagannathan V, Gentilini F, Leeb T. PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism. Genes (Basel). 2021 Sep 24;12(10):1489. doi: 10.3390/genes12101489. PMID: 34680883; PMCID: PMC8535654.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.