Dwarfism ACAN D1, D2, D3 IMPROVED, D4
Code: P306
Short description
Chondrodysplastic Dwarfism is a skeletal disorder that causes reduced growth and an abnormal body shape.
General information
Chondrodysplastic Dwarfism is a skeletal disorder that causes reduced growth and an abnormal body shape. This variant of dwarfism, found in the Miniature Horse and Falabella, can be caused by any combination of four different recessive mutations to the gene ACAN, which are known as D1, D2, D3* and D4. The D1 and D3* mutations are also known to occur in the Shetland Pony. If foals with ACAN-caused dwarfism are born alive, the disorder is severe and painful, and in severe cases it may require euthanasia of an affected foal.
Specifications
| Breeds | |
|---|---|
| Gene | ACAN |
| Chromosome | 1 |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Horses affected by chondrodysplastic dwarfism are extremely short relative to their age. They generally have disproportionately short limbs and necks, bowed forelegs, a compressed face with bulging eyes, a severe underbite, a cleft palate, a protruding tongue and abdominal hernia. Affected foals (especially with genotype D1/D1) may spontaneously abort during pregnancy, or else require euthanasia soon after birth due to severely reduced quality of life.
In addition, carriers of these mutations may be shorter than horses free of the mutation, even without the typical dwarf phenotype.
Additional information
A test for the ACAN D5 mutation (D5kyR) is now available in package P380 together with D1-D4.
The ACAN test series does not cover all possible causes for dwarfism and skeletal dysplasia in horses.
References
Pubmed ID: 2794904
Year published: 2017
Omia ID: 1271
Omia variant ID:
Turnaround information
- 15 working days