Spondylocostal Dysostosis

General Information: Spondylocostal Dysostosis (SCD) is a hereditary skeletal disorder that significantly impacts dogs, leading to severe malformations of the spine and ribs. Puppies affected by SCD are either stillborn or die shortly after birth due to these critical abnormalities. The condition is characterized by a shortened spinal column and a distinctive comma-like shape of the body, with underdeveloped hindquarters compared to the forequarters. Additional congenital defects such as umbilical hernias and cleft palates may also be present. These structural abnormalities make survival beyond birth extremely unlikely for affected puppies.

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 Spondylocostal Dysostosis (SCD) focuses on identifying mutations in the HES7 gene to determine carrier status. This disorder is inherited in an autosomal recessive pattern, which means a dog must inherit two copies of the mutated gene, one from each parent, to be affected. Carriers of the gene mutation do not typically exhibit symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. To prevent the birth of affected puppies and eliminate the mutation from breeding lines, it is crucial to avoid breeding two carriers. Dogs that are not carriers of the mutation do not pose a risk of producing affected puppies, making genetic testing an essential component of responsible breeding practices.