Robinow-like Syndrome (DVL2)
Kodas: H146
Short description
Robinow-like Syndrome (DLV2), also known as screw tail, is a hereditary trait that affects skeletal development.
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.
Specifications
| Breeds | |
|---|---|
| Gene | DVL2 |
| Chromosome | 5 |
| Mutation | c.2044delC |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive with Incomplete Penetrance |
| Also known as | Screw tail |
Clinical features
Affected dogs usually present from birth with a shortened, twisted tail caused by fused or malformed vertebrae. In some cases, additional vertebral abnormalities may occur, which can lead to spinal deformities, back pain, or, in severe cases, neurological problems such as weakness or incoordination. The degree of tail twisting can also lead to dermatitis around the (base of the) tail. The mutation is also associated with distinctive breed features including a broad head, widely spaced eyes, short muzzle, and small stature. The extent of changes varies between individuals but is typically evident in puppies at an early age. In some dogs, the associated body structure may also contribute to breathing difficulties (brachycephalic obstructive airway syndrome, BOAS) and stress on the spine and joints.
References
Pubmed ID: 30521570
Year published: 2018
Omia ID: 2186
Omia variant ID:
Turnaround information
- 15 working days