Disproportionate dwarfism is a hereditary monogenic autosomal recessive disease that belongs to the group of skeletal dysplasias. It is characterised by abnormal growth, development and remodelling of bones and cartilage. It involves length alterations of the limbs, changes in body proportions and typically present as disproportionate short stature at juvenile age. Radiographs of affected dogs reveal a decreased level of endochondral ossification in its growth plates and a premature closure of the distal ulnar physis. The symptoms become evident at 2 months of age.
Inheritance: autosomal recessive - read more
Mutation: PCYT1A gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.