Disease overview

Skeletal Dysplasia is a condition characterized by skeletal development dysfunction. It leads to abnormal growth, such as short legs with normal body length, and disproportionate dwarfism with potential increase in head size.

Gene name

Currently in the vet report (V1)?

Inheritance

Autosomal dominant

Signs and symptoms

Affected dogs have short limbs with normal body proportion. Clinical signs first appear around 5 to 6 months of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, as well as review health history and any clinical signs. 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

Citations

Brown EA, Dickinson PJ, Mansour T, Sturges BK, Aguilar M, Young AE, Korff C, Lind J, Ettinger CL, Varon S, Pollard R, Brown CT, Raudsepp T, Bannasch DL. FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):11476-11481. doi: 10.1073/pnas.1709082114. Epub 2017 Oct 11. PMID: 29073074; PMCID: PMC5664524.

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.