Spondylocostal dysostosis (SCD, Comma Defect) is a severe congenital disorder of the axial skeleton. The condition is characterised by a reduction in body length, truncal shortening, changes in vertebrae shape and rib anomalies. The hindquarters of affected pups is usually reduced in size compared to the forequarters, giving an overall comma-like morphology to the body. The malformation of the thorax and of the spine affects the respiratory function of lungs and the function of the spine. The rib cage is usually poorly developed with a reduced number of ribs, fusion of ribs and displaying malalignment. Affected pups are usually stillborn or die within hours of birth.
Inheritance: autosomal recessive - read more
Mutation: HES7 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.