Spondyloepiphyseal dysplasia, congenital type(SEDC)
Also known as: Spondyloepiphysäre Dysplasie · Congenital Spondyloepiphyseal Dysplasia · Spondyloepiphyseal Dysplasia Congenita · Angeborene spondyloepiphysäre Dysplasie
Overview
What it is
This is a rare, inherited skeletal disorder affecting the development of bone and cartilage in the spine and the ends of the long bones. A genetic mutation causes abnormal cartilage formation, which prevents normal bone growth and leads to disproportionate dwarfism. This means the dog's limbs and spine do not grow to their normal length or shape, resulting in structural deformities.
How it presents
Owners will typically notice signs in early puppyhood, as affected puppies show significantly shortened limbs, a deformed chest, and a waddling or abnormal gait. As the dog grows, the skeletal abnormalities can cause chronic joint pain and, in severe cases, coordination loss due to spinal cord compression.
Treatment
There is no cure for this genetic condition, and treatment focuses on lifelong management to maintain quality of life. This typically involves pain relief medications, physical therapy, and potentially corrective surgeries to ease joint or spinal pressure, with lifetime costs ranging from 3,000 to 12,000 EUR.
How it's tested
Spondyloepiphyseal Dysplasia Congenita (SEDC) DNA-Test(SEDC)
Primary testDNA testEin DNA-Test identifiziert die ursächliche Mutation im COL2A1-Gen, die für die kongenitale spondyloepiphysäre Dysplasie verantwortlich ist.
Issuing body: Embark
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 Spondyloepiphyseal dysplasia, congenital type?
This is a rare, inherited skeletal disorder affecting the development of bone and cartilage in the spine and the ends of the long bones. A genetic mutation causes abnormal cartilage formation, which prevents normal bone growth and leads to disproportionate dwarfism. This means the dog's limbs and spine do not grow to their normal length or shape, resulting in structural deformities.
How is Spondyloepiphyseal dysplasia, congenital type tested?
Tests currently in our database: Spondyloepiphyseal Dysplasia Congenita (SEDC) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.