Disease overview

Spondylocostal dysostosis is an inherited condition that causes limb skeletal growth abnormalities. Miniature Schnauzers affected by this disease will exhibit shorter bodies, along with vertebral and rib abnormalities. These abnormalities can include misalignment, fusion, and reduction in the number of vertebrae.

Gene name

HES7

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by this disease are often stillborn due to extreme skeletal abnormalities. They may present with a shorter body and shorter limbs. Other abnormalities may include cleft palate and umbilical hernia.

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

Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, Wade CM. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. PLoS One. 2015 Feb 6;10(2):e0117055. doi: 10.1371/journal.pone.0117055. PMID: 25659135; PMCID: PMC4319916.

Disclaimer

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