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Dwarfism is a form of abnormal development in size and stature.

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Hair, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance


Year Published

General information

Dwarfism is a form of abnormal development in size and stature. Chondrodysplastic dwarfism can be caused by mutations in the aggrecan (ACAN) gene which inherits in a recessive way. This gene is essential for proper functioning of the articular cartilage. Therefore, any mutations in the ACAN-gene can lead to abnormalities in skeletal development. This disease is described to be caused by four independently segregating mutations in the ACAN-gene; D1, D2, D3* and D4.

Clinical features

Dwarf phenotypes range from abortus to viable offspring with evidence of skeletal dysplasia. Dwarfism affects stature, size and can have negative effect on general health.

Additional information

This test does not cover all possible test for dwarfism and skeletal dysplasia in horses. To determine the influences on the phenotype, according to a genome wide association study, all four variants found in ACAN (D1, D2, D3* and D4) should be tested.


Pubmed ID: 27942904

Omia ID: 1271

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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