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Osteochondrodysplasia*

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Test Overview:

The osteochondrodysplasias represent a broad group of cartilage and bone disorders stemming from structural, metabolic, and endocrinological causes. An osteochondrodysplasia was described in the Miniature Poodle breed nearly 60 years ago [1], though the defect remains unresolved molecularly. The disorder is grossly characterized by stunted growth and abnormal locomotion, first observable at three weeks of age. Affected pups soon exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws, and elongated and misshapen paws that resemble clubfoot.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

SLC13A1

Variant Detected:

g.63600045_63729942del129897bp

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

ALPLoS One. 2012;7(12):e51917. doi: 10.1371/journal.pone.0051917. Epub 2012 Dec

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