Skeletal dysplasia 3, PCYT1A-related(SD3)
Also known as: Skeletal Dysplasia 3 · PCYT1A-related skeletal dysplasia · PCYT1A dwarfism · Skelettdysplasie Typ 3 · SD3 dwarfism
Overview
What it is
Skeletal dysplasia 3 (SD3) is an inherited genetic disorder of the skeletal system caused by a mutation in the PCYT1A gene. This mutation impairs the normal longitudinal growth of the limb bones, resulting in disproportionate dwarfism, a condition where the legs are abnormally short compared to the rest of the body.
How it presents
Signs are visible during the puppy stage, as affected dogs develop disproportionately short legs relative to their body size. Over time, this abnormal bone structure can lead to joint pain, restricted mobility, and premature osteoarthritis.
Treatment
While there is no cure, the condition is managed lifelong through pain relief, joint support, and physiotherapy. The estimated cost for this ongoing supportive care ranges from 1,500 to 5,000 EUR.
How it's tested
Skeletal Dysplasia 3 (SD3) DNA-Test(SD3)
Primary testDNA testEin molekulargenetischer DNA-Test zum Nachweis der ursächlichen Mutation im PCYT1A-Gen, um Träger und betroffene Hunde für Skelettdysplasie 3 zu identifizieren.
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 Skeletal dysplasia 3, PCYT1A-related?
Skeletal dysplasia 3 (SD3) is an inherited genetic disorder of the skeletal system caused by a mutation in the PCYT1A gene. This mutation impairs the normal longitudinal growth of the limb bones, resulting in disproportionate dwarfism, a condition where the legs are abnormally short compared to the rest of the body.
How is Skeletal dysplasia 3, PCYT1A-related tested?
Tests currently in our database: Skeletal Dysplasia 3 (SD3) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.