Skeletal dysplasia 2 (Dwarfism) (SD2)

General description

Skeletal dysplasia 2 causes an early halt in growth of long bones. In contrast to other forms of dwarfism (pituitary dwarfism), the result are „disproportioned“ dogs with shortened front limbs and raising dorsal line. Torso length and depth is not altered.

Breeds

Labrador Retriever

Order details
Test number8456
AbbreviationSD2
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexskeletal
Inheritanceautosomal recessive
Causalitycausally
GeneCOL11A2
MutationC-G
LiteratureOMIA:001772-9615
Detailed description

Skeletal dysplasia 2 is a genetic disease in Labrador Retrievers that causes an early halt in growth of long bones. In contrast to other forms of dwarfism (pituitary dwarfism), the result are „disproportioned“ dogs with shortened front limbs and raising dorsal line. Torso length and depth is not altered. Following the latest state of knowledge, affected dogs do not exhibit further symptoms like malformed genitals or neuronal diseases in pituitary dwarfism.

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