Achondroplasia
Also known as: Achondroplastic dwarfism · Achondroplasie · Chondrodysplasia · Skeletal dwarfism
Overview
What it is
Achondroplasia is an inherited skeletal disorder where the normal growth of cartilage in the long bones of the limbs is impaired, resulting in shortened legs with a normal-sized trunk. Unlike the human version of this condition, canine achondroplasia is driven by genetic variations known as FGF4 retrogenes rather than the FGFR3 gene. This genetic change specifically alters how the skeletal system develops during growth.
How it presents
Signs are visible from puppyhood, presenting as abnormally short or bowed limbs, a disproportionately large head, and a stiff gait. As the dog grows, owners may also notice signs of joint discomfort or reduced mobility.
Treatment
While the skeletal structure cannot be reversed, symptoms are managed lifelong with weight control, pain management, and physical therapy, with some severe cases requiring orthopedic surgery. The expected cost for supportive care and potential surgical intervention ranges from 1,500 to 7,000 EUR.
How it's tested
FGF4-Retrogen-Analyse (Chondrodysplasie/Chondrodystrophie)(CDPA/CDDY)
Primary testDNA testDer Gentest analysiert das Vorliegen von FGF4-Retrogen-Insertionen auf den Chromosomen 12 und 18, welche für die Ausprägung von Chondrodysplasie und Chondrodystrophie verantwortlich sind.
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 Achondroplasia?
Achondroplasia is an inherited skeletal disorder where the normal growth of cartilage in the long bones of the limbs is impaired, resulting in shortened legs with a normal-sized trunk. Unlike the human version of this condition, canine achondroplasia is driven by genetic variations known as FGF4 retrogenes rather than the FGFR3 gene. This genetic change specifically alters how the skeletal system develops during growth.
How is Achondroplasia tested?
Tests currently in our database: FGF4-Retrogen-Analyse (Chondrodysplasie/Chondrodystrophie).
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.