Dwarfism Friesian
Code: P381
Short description
Dwarfism in Friesians, also known as Friesian dwarfism, is characterized by disproportionate growth, where the limbs and ribs are shorter than normal, while the head size and back length remain unaffected.
General information
Dwarfism in Friesians, also known as Friesian dwarfism, is characterized by disproportionate growth, where the limbs and ribs are shorter than normal, while the head size and back length remain unaffected. This condition is an autosomal recessive inherited disorder caused by a mutation in the B4GALT7 gene (Beta-1,4-Galactosyltransferase 7). The B4GALT7 gene normally plays a crucial role in the formation of the extracellular matrix, a vital component for bone development. The mutation disrupts this process, leading to abnormal bone growth.
Specifications
| Breeds | |
|---|---|
| Gene | B4GALT7 |
| Chromosome | 14 |
| Mutation | c.50G>A |
| Organ | Skeletal system |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
The Friesian dwarf phenotype presents with disproportionate growth, shortened limbs, ribs, and neck, as well as reduced body weight. However, the head size and back length appear normal. Affected horses often show hyperextension of the fetlock joints in all limbs, with varying severity. In foals with the mutation, the laxity of flexor tendons, which is common in newborns of all breeds, fails to improve over time and instead worsens with age. This progression leads to the development of an abnormal gait.
References
Pubmed ID: 27793082
Year published: 2016
Omia ID: 2068
Omia variant ID:
Turnaround information
- 15 working days