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Skeletal Dysplasia 2 is a form a dwarfism an inherited Musculoskeletal disease affecting Labrador Retrievers.
Affected dogs develop a mild form of “disproportionate dwarfism” consisting of short legs with normal body length and width.
The leg bones are shorter, thicker, and slightly curved and the front legs are frequently more affected than rear legs.
Joints and eyes are not typically affected with this disease.
The height of affected dogs is variable, making diagnosis based on physical characteristics alone challenging in some individuals.
Mildly affected dogs from bloodlines known to produce large dogs may still fall within their breed standard for height.
The causal variant shows Incomplete Penetrance meaning that not all dogs inheriting two copies (one from each parent) will display obvious physical characteristics of dwarfism.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Gene:
Collagen alpha-2(XI) chain gene (COL11A2) on chromosome 12
Variant Detected:
Base Substitution c.143G>C p.Arg48Pro
Mode of Inheritance:
Recomended Screening:
Research Citation(s):