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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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 18 |
| Mutation | c.924C>A |
| Mode of Inheritance | Autosomique dominante |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 29485212
Year published: 2018
Omia ID: 1214
Omia variant ID: