{"id":248335,"date":"2024-09-12T07:23:57","date_gmt":"2024-09-12T05:23:57","guid":{"rendered":"http:\/\/staging.laboklin.com\/labogen\/labogen_wp\/spondylocostal-dysostosis-comma-defect"},"modified":"2024-09-12T07:23:57","modified_gmt":"2024-09-12T05:23:57","slug":"spondylocostal-dysostosis-comma-defect","status":"publish","type":"page","link":"https:\/\/labogen.com\/en\/genetic-diseases-dog\/spondylocostal-dysostosis-comma-defect\/","title":{"rendered":"Spondylocostal dysostosis (Comma defect)"},"content":{"rendered":"

Spondylocostal dysostosis (Comma defect)<\/h1>

General description<\/strong><\/h4>

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.<\/p>

Breeds<\/span><\/strong><\/h4>

Miniature Schnauzer<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8335<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>3-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>skeletal<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>from birth<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>HES7<\/td><\/tr>
Mutation<\/strong><\/td>DEL<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001944-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>
Detailed description<\/summary>

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.<\/p><\/details><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":8791,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-248335","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/248335","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/comments?post=248335"}],"version-history":[{"count":0,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/248335\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/8791"}],"wp:attachment":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/media?parent=248335"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}