Spondylocostal dysostosis (Comma defect)
Spondylocostal dysostosis (Comma defect)
General description
The spondylocostal dysostosis (comma defect) is characterized mainly by segmentation of the spine and ribs. In addition to the spine and rib defects, newborns exhibit a dispropotional dwarfism with a prominent forehead, an expansive occipital and malformations of the extremities. Newborn puppies often die due to suffocation.
Breeds
Miniature Schnauzer
Order details
| Test number | 8335 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | HES7 |
| Mutation | DEL |
| Literature | OMIA:001944-9615 |
Detailed description
The spondylocostal dysostosis (comma defect) is a hereditary disease, which is characterized mainly by segmentation of the spine and ribs. The disease is caused by a deletion in the HES7-gene. In addition to the spine and rib defects, newborns exhibit a dispropotional dwarfism. They also have a prominent forehead, an expansive occipital and malformations of the extremities. The malformation of the ribcage lowers chest-volume, which leads to decreased respiratory function. Newborn puppies often die due to suffocation.
