Osteochondromatosis
Kodas: H903
Short description
Osteochondromatosis, alternately known as multiple osteochondromas, hereditary exostoses, cartilaginous exostoses, diapyseal aclasis and deforming chondrodysplasia, is a skeletal disorder that causes the formation of growths on long bones.
General information
Osteochondromatosis, alternately known as multiple osteochondromas, hereditary exostoses, cartilaginous exostoses, diapyseal aclasis and deforming chondrodysplasia, is a skeletal disorder that causes the formation of growths on long bones. This variant of the disorder, found in the American Staffordshire Terrier, is caused by a dominant mutation to the gene EXT2.
Specifications
| Breeds | |
|---|---|
| Gene | EXT2 |
| Chromosome | 18 |
| Mutation | c.924C>A |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
Clinical features
Affected puppies develop skeletal abnormalities such as lesions of the ribs and vertebrae caused by bone growths, which may potentially lead to paresis (weakened/impaired movement) of the hind legs. Depending on the severity of symptoms, euthanasia might be necessary.
References
Pubmed ID: 29485212
Year published: 2018
Omia ID: 1214
Omia variant ID:
Turnaround information
- 10 working days