Skeletal dysplasia 2 (Dwarfism) (SD2)
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 number | 8456 |
| Abbreviation | SD2 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | COL11A2 |
| Mutation | C-G |
| Literature | OMIA: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.
