Disease overview

Skeletal Dysplasia 2 is characterized by dysfunction in skeletal development that leads to abnormal growth. Affected dogs with this condition develop a mild form of "disproportionate dwarfism", such as short legs with a normal body length and width.

Gene name

COL11A2

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs include leg bones that are shorter, thicker, and slightly curved, with the front legs frequently more affected than rear legs. Signs typically present around 5 to 6 months of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. 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

Frischknecht M, Niehof-Oellers H, Jagannathan V, Owczarek-Lipska M, Drögemüller C, Dietschi E, Dolf G, Tellhelm B, Lang J, Tiira K, Lohi H, Leeb T. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One. 2013;8(3):e60149. doi: 10.1371/journal.pone.0060149. Epub 2013 Mar 20. PMID: 23527306; PMCID: PMC3603880.

Disclaimer

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