Spondylocostal Dysostosis (Comma Defect)
Kodas: H803
Short description
Spondylocostal Dysostosis (Comma Defect) is a severe skeletal growth disorder that results in a shortened body and an abnormal ribs and spine.
General information
Spondylocostal Dysostosis (Comma Defect) is a severe skeletal growth disorder that results in a shortened body and an abnormal ribs and spine. This variant of the disorder, also called Comma Defect due to the abnormal body shape it causes in affected puppies, occurs in the Standard Schnauzer and Miniature Schnauzer. Comma Defect is lethal, resulting in stillbirth or death shortly after the puppy’s birth. It is caused by a recessive mutation to the gene HES7.
Specifications
| Breeds | |
|---|---|
| Gene | HES7 |
| Chromosome | 5 |
| Mutation | c.126delG |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive Lethal |
| Also known as | SCD |
Clinical features
Affected puppies are stillborn or die within hours of birth. They have a reduced body length with disproportionately small hindquarters – described as a comma-like body shape – and may present with additional symptoms such as umbilical hernias or cleft palate.
References
Pubmed ID: 25659135
Year published: 2015
Omia ID: 1944
Omia variant ID:
Turnaround information
- 10 working days