Osteochondrodysplasia

Other Names: Skeletal dwarfism, OCD
Affected Genes: SLC13A1
Inheritance: Autosomal Recessive
Mutation: chr14:60628771-60758561 (canFam3): 129,790 bp deletion

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Common Symptoms

Osteochondrodysplasia is an inherited Musculoskeletal disease affecting Miniature Poodles. Affected dogs typically present at about 3 weeks of age with stunted growth. Puppies often walk differently than unaffected littermates and stand with their feet turned out and hind legs splayed. Their legs are short and bent with enlarged joints and clubbed feet. They also have flatted rib cages and under bites, which can affect their ability to nurse and breathe. While affected dogs can survive for many years with supportive care, they will develop arthritis and likely will have breathing difficulty due to their deformed ribcages.

Breed-Specific Information for the Miniature Poodle

The Mutation of the SLC13A1 gene associated with osteochondrodysplasia has been identified in Miniature Poodles, although its overall frequency in this breed is unknown.

Testing Tips

Genetic testing of the SLC13A1 gene in Miniature Poodles will reliably determine whether a dog is a genetic Carrier of osteochondrodysplasia. Osteochondrodysplasia is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SLC13A1 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Miniature Poodles that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Cotchin E, Dyce K (1956) A case of epiphyseal dysplasia in a dog. Veterinary Record 68: 427–428. [Not in Pubmed]
  • Neff MW, Beck JS, Koeman JM, Boguslawski E, Kefene L, Borgman A, Ruhe AL. Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. PLoS One. 2012;7(12):e51917. [PubMed: 23300579]
  • Riser WH, Haskins ME, Jezyk PF, Patterson DF. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc. 1980 Feb 15;176(4):335-41. Review. [PubMed: 6987200]