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Robinow-like Syndrome (DLV2), also known as screw tail, is a hereditary trait that affects skeletal development.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Robinow-like Syndrome (DLV2), also known as screw tail, is a hereditary trait 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.
Clinical features
Dogs with this feature 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 characteristics. The extent of changes can vary between individuals, but their presence is typically evident in puppies at an early age.
Additional information
References
Pubmed ID: 30521570
Omia ID: 2186