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.
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.