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H149

Disproportionate Dwarfism is a skeletal disorder affecting limb development in Dalmatian dogs.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto

Mode of Inheritance

Chromosome

Year Published

Informazioni generali

Disproportionate Dwarfism is a skeletal disorder affecting limb development in Dalmatian dogs. The condition results in shortened limbs relative to the body, while the torso and head remain normally proportioned. It is caused by a mutation in the PRKG2 gene and follows an autosomal recessive inheritance pattern. The disorder has been observed in the Dalmatian breed.

Caratteristiche cliniche

Signs typically appear around 2 to 3 months of age, as growth of the long bones becomes visibly disrupted. Affected puppies may develop abnormally short and sometimes curved forelimbs, often resulting in a distinctive gait and joint incongruities. While the condition itself is not usually painful, it can lead to reduced mobility or osteoarthritis (degenerative joint disease, DJD) later in life due to altered limb structure. In severe cases, where quality of life is significantly compromised, euthanasia may be considered.

Informazioni aggiuntive

Riferimenti

Pubmed ID: Unpublished from Uppsala University, Sweden

Omia ID: Not Available

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