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Osteochondrodysplasia

Osteochondrodysplasia is a genetic skeletal disorder in dogs characterized by stunted growth and deformities such as short limbs, bent legs, and enlarged joints, leading to long-term health issues.

Affected Genes: SLC13A1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr14:60049389-60178963: 129,790 bp deletion

Breed: Aussiedoodle
Australian Labradoodle*
Bernedoodle*
Bordoodle
Cavapoo
Cavapoochon
Cockapoo*
Danoodle
Goldendoodle*
Irishdoodle
Labradoodle*
Maltipoo
Miniature Poodle
Newfypoo*
Papillon
Poodle
Schnoodle
Sheepadoodle
Standard Poodle
Toy Poodle
Yorkiepoo

General Information: Osteochondrodysplasia is an inherited musculoskeletal disease affecting a variety of dog breeds, including Poodles and their crossbreeds like Labradoodles and Goldendoodles. This condition is typically noticeable around three weeks of age, when affected puppies display stunted growth and a distinct gait compared to their littermates. Symptoms include outward-turned feet, splayed hind legs, short and bent limbs, enlarged joints, and clubbed feet. Additionally, affected dogs may have flattened rib cages and underbites, which can impact their ability to nurse and breathe. While these dogs can live for several years with supportive care, they often develop arthritis and may experience chronic breathing difficulties due to their malformed ribcages. The condition requires ongoing management to maintain the quality of life for affected dogs.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the SLC13A1 gene is essential for identifying carriers of the mutation responsible for osteochondrodysplasia in dogs. This disorder is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the condition. Carrier dogs, which have only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of developing osteochondrodysplasia and a 50% chance of being a carrier. Reliable genetic testing is critical for responsible breeding practices to avoid mating two carriers, thus reducing the risk of producing puppies with this debilitating skeletal disorder. By identifying carriers and making informed breeding decisions, breeders can help eliminate this condition from the affected breeds, ensuring healthier and more resilient future generations. While genetic testing for the SLC13A1 mutation reduces the risk of osteochondrodysplasia, it is important to recognize that other genetic or environmental factors may also contribute to similar musculoskeletal conditions, necessitating comprehensive genetic screening and vigilant management.

References:
Cotchin E, Dyce K (1956) A case of epiphyseal dysplasia in a dog. Vet Rec. 68: 427–428.

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.

Riser WH, Haskins ME, Jezyk PF, Patterson DF. Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc. 1980 176(4):335-341. Review.