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Robinow-like syndrome, also known as screw tail, is an inherited disorder that affects skeletal development.
15 Arbeidsdager
Spesifikasjoner
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| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
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Generell informasjon
Robinow-like syndrome, also known as screw tail, is an inherited disorder that affects skeletal development. It is caused by a mutation in the DVL2 gene, leading to a non-functional protein and disruption of normal spine formation. This mutation is found in Boston Terriers, Bulldogs, and French Bulldogs, where it contributes to the characteristic shortened, kinked “screw” tail and the typical bulldog-type body shape.
Kliniske egenskaper
Dogs with this disorder usually present from birth with a shortened, twisted tail caused by fused or malformed vertebrae. In some cases, additional vertebral abnormalities may occur. In affected breeds, the condition is also associated with distinctive features such as a broad head, widely spaced eyes, short muzzle, small stature, and spinal malformations. The severity of clinical signs can vary between individuals, but onset is typically evident in puppies at an early age.
Tilleggsinformasjon
Referanser
Pubmed ID: 30521570
Omia ID: 2186