Disease overview

Chondrodysplasia is a bone disease that is caused by defective cartilage development. This can lead to abnormal development of the joints and growth plates in the bone, which leads to skeletal development issues.

Gene name

FGF4

Inheritance

Autosomal dominant

Signs and symptoms

Affected dogs will have disproportionate body sizes characterized by short legs with a normal sized body. This disease may lead to changes in snout length.

How is it diagnosed

A veterinarian will conduct a thorough exam, as well as review health history and any clinical signs. Radiographs can help assess abnormal bone development. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Parker HG, VonHoldt BM, Quignon P, Margulies EH, Shao S, Mosher DS, Spady TC, Elkahloun A, Cargill M, Jones PG, Maslen CL, Acland GM, Sutter NB, Kuroki K, Bustamante CD, Wayne RK, Ostrander EA. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science. 2009 Aug 21;325(5943):995-8. doi: 10.1126/science.1173275. Epub 2009 Jul 16. PMID: 19608863; PMCID: PMC2748762.

Dickinson PJ, Bannasch DL. Current Understanding of the Genetics of Intervertebral Disc Degeneration. Front Vet Sci. 2020 Jul 24;7:431. doi: 10.3389/fvets.2020.00431. PMID: 32793650; PMCID: PMC7393939.

Bannasch D, Batcher K, Leuthard F, Bannasch M, Hug P, Marcellin-Little DJ, Dickinson PJ, Drögemüller M, Drögemüller C, Leeb T. The Effects of FGF4 Retrogenes on Canine Morphology. Genes (Basel). 2022 Feb 10;13(2):325. doi: 10.3390/genes13020325. PMID: 35205370; PMCID: PMC8872533.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.