Skeletal dysplasia 3 – Genetic tests

The disease is primarily characterized by shortening and deformation of the humerus and femur, but other long bones are also altered. The phenotype resembles disproportionate dwarfism, in which only the limbs are shortened, while the trunk is of normal size.

Affected puppies were not visibly distinguishable from their unaffected littermates at birth, but the deviation from typical limb length became increasingly apparent at three to five weeks of age.

The inheritance is autosomal recessive, genetic testing prevents the unintentional breeding of affected puppies.

Gene and tested mutations/variants

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