Autosomal recessive spondylocostal dysostosis(SCDO)
Also known as: Spondylocostal Dysostosis · Spondylocostale Dysostose · SCD · Jarcho-Levin-Syndrom beim Hund · Skelettdysplasie mit Rippenfehlbildungen · …
Overview
What it is
Autosomal recessive spondylocostal dysostosis is a severe genetic disorder affecting the skeletal system, specifically the development of the spine and ribs. During embryonic development in the womb, the bones of the spinal column and the ribs fail to form properly. This leads to extensive malformations, resulting in a severely shortened and deformed back and rib cage.
How it presents
Symptoms are visible immediately at birth, with affected puppies displaying an abnormally short torso, deformed limbs, and severe breathing difficulties. Because the rib cage is too small, the lungs cannot expand properly, which is rapidly fatal.
Treatment
There are no treatment options for this condition as it is neonatal lethal, resulting in an expected treatment cost of 0 EUR. Humane euthanasia is typically performed immediately at birth to prevent suffering.
How it's tested
Spondylocostale Dysostose (SCDO) DNA-Test(SCDO)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im HES7-Gen, die für die autosomal-rezessive Spondylocostale Dysostose verantwortlich ist, und ermöglicht die Identifikation von Trägern vor der Zucht.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Autosomal recessive spondylocostal dysostosis?
Autosomal recessive spondylocostal dysostosis is a severe genetic disorder affecting the skeletal system, specifically the development of the spine and ribs. During embryonic development in the womb, the bones of the spinal column and the ribs fail to form properly. This leads to extensive malformations, resulting in a severely shortened and deformed back and rib cage.
How is Autosomal recessive spondylocostal dysostosis tested?
Tests currently in our database: Spondylocostale Dysostose (SCDO) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.