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. This autosomal-dominant condition is caused by genetic variations known as FGF4 retrogenes. 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
Why is this linked to extreme breeding?
This condition can be tied to a trait dogs are bred for. These pages explain how it arises, which breeds are affected and how to recognize dogs bred for health.
Treatment cost
Estimated range of typical treatment costs. Actual costs depend on severity, clinic and region.
Frequently asked questions
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. This autosomal-dominant condition is caused by genetic variations known as FGF4 retrogenes. 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.