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Chondrodysplastic Dwarfism is a skeletal disorder that causes reduced growth and an abnormal body shape.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
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 D3* mutation is also known to occur in the Shetland Pony. ACAN-caused dwarfism is severe and painful, and in severe cases may require euthanasia of an affected foal.
Clinical features
Horses affected by chondrodysplastic dwarfism are extremely short relative to their age. They generally have have disproportionately short limbs and necks, bowed forelegs, a compressed face with bulging eyes, a severe underbite, a cleft palate, a protruding tongue and hernia of the abdomen. Affected foals 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 normal.
Additional information
A test for the ACAN D5 mutation is now available in package P380 together with D1-D4.
In addition, the ACAN test series does not cover all possible causes for dwarfism and skeletal dysplasia in horses.
References
Pubmed ID: 2794904
Omia ID: 1271