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Osteochondrodysplasia

Osteochondrodysplasia is a disorder of bone and cartilage development resulting in stunted growth, misshapen limbs, and abnormal movement.

Found in

1 in 830 dogs

in our testing

Key Signs

Stunted growth, Misshapen limbs, Abnormal movement, Abducted hind limbs, Enlarged joints, Flattened rib cage, Shortened and bent long bones, Deformed paws, Underbite

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with Osteochondrodysplasia

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Osteochondrodysplasia

The signs of osteochondrodysplasia can typically be observed in puppies as young as 3 weeks of age. The clinical signs of osteochondrodysplasia in Miniature Poodles include a flattened ribcage, deformed paws, abducted hind limbs, enlarged joints, and an underbite. Long bones of the limbs are shortened and bent. Affected dogs are smaller in size compared to their unaffected littermates. Affected dogs can live for several years, but they often suffer from arthritis caused by misshapen limbs. Abnormal structure of the ribcage can cause breathing difficulties.

Treatment is pain management, supportive care, and symptomatic depending on the severity of the dog's clinical signs.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the Osteochondrodysplasia mutation can be safely bred with a clear dog with no copies of the Osteochondrodysplasia mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Osteochondrodysplasia mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the Osteochondrodysplasia mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene SLC13A1
Variant Deletion
Chromosome 14
Coordinate Start 60,628,773
Coordinate End 60,758,560

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Neff, M. W., Beck, J. S., Koeman, J. M., Boguslawski, E., Kefene, L., Borgman, A., & Ruhe, A. L. (2012). Partial Deletion of the Sulfate Transporter SLC13A1 Is Associated with an Osteochondrodysplasia in the Miniature Poodle Breed. PLoS ONE, 7(12). View the article