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Spondylocostal Dysostosis (Comma Defect) is an inherited axial skeleton growth disorder that affects the Miniature Schnauzer dog breed. The disorder is characterized by truncal shortening, extensive hemivertebrae and rib anomalies, such as malalignment, fusion, and reduction in number. Examination of the affected puppies reveals a reduction in body length compared to healthy littermates. Hind limbs are much shorter than front limbs, which gives a comma-like morphology to the body. Abnormalities like umbilical hernia and cleft hard palate are also possible in affected pups. Mortality of the puppies is likely due to impaired respiratory function as a result of a truncal shortening and rib fusion.
Haemolymphatic - Associated with the blood and lymph
Hes family bHLH transcription factor 7 (HES7) Chromosome 5
Nucleotide Deletion c.126delG p.Thr43ProfsTer24
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Willet CE, et al. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. (2015) PloS One 10(2): e0117055