Skeletal dysplasia 3 - disproportionate dwarfism (PCYT1A: c.673T>C)
Skeletal dysplasia type 3 is an inherited condition described notably in the Vizsla, associated with a variant in the PCYT1A gene. It primarily results in reduced shoulder height in homozygous dogs, with notable individual variability. The skeletal abnormalities mainly affect the limbs, with shortened, thickened, and deformed bones visible on imaging. Despite these structural changes, affected dogs do not consistently show obvious clinical signs in the short term. However, long-term monitoring is recommended to assess potential orthopedic consequences with age.
Transmission
Autosomal recessiveBreed
Vizsla, Vizsla



