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Chondrodystrophy with Intervertebral Disc Disease Risk Factor (CDDY with IVDD)

Description

Chondrodystrophy (CDDY) - Caused by an insertion of a fibroblast growth factor 4 (FGF4) retrogene on dog chromosome 12 (CFA12), which alters the structure and function of intervertebral discs and leads to limb shortening. Inheritance: The mutation is inherited in a semi-dominant manner for limb length—dogs with one copy have semi-shorter legs, and two copies lead to even shorter legs. However, the risk for intervertebral disc degeneration (IVDD) is autosomal dominant; one mutated allele is enough to increase disc disease risk. Breeds Affected: Chondrodystrophy and increased IVDD risk are found in many breeds, especially Dachshunds, Welsh Corgis, Pekingese, Shih Tzu, Cocker Spaniel, French Bulldog, Beagle, Basset Hound, and more.

Recommended Breeding

Diseases

Chondrodystrophy with Intervertebral Disc Disease Risk Factor (CDDY with IVDD)

$ 50.00

Associated Breed(s):

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Labels:

Variant of uncertain significance (VUS)

Not to be used in clinical decision‑making, for breeding programs or screening. Efforts to resolve the classification of the variant as pathogenic or benign should be undertaken.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Gene:

CFA12

Variant Detected:

FGF4

Mode of Inheritance:

Dominant with Variable Expressivity

OMIA Reference:

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