Dwarfism (ACAN, Chrondrodyslasie)
Dwarfism is most common in Shetland ponies and miniature horses. Phenotypical features of this... more
Dwarfism is most common in Shetland ponies and miniature horses. Phenotypical features of this hereditary disease are breathing problems due to a cleft palate, deformed mouths, shortened limbs and bowed forelegs, disproportionately large cranium and shortened neck, protruding eyes, abdominal hernia and a shortened rib cage. As a result, affected animals are often not viable or have to be euthanized due to the poor quality of life. A mutation in the ACAN gene is responsible for this form of dwarfism. 4 different mutations, which cause the autosomal-recessive disease, are known so far. These are named D1, D2, D3*, and D4 and are also pathogenic as compound heterozygous genes. Compound heterozygous variants together with D1 (except N/D1) are more deleterious and often lead to death. A combination with the D2 variant is considered as the mildest form of dwarfism.
American Miniature Horse, Shetland pony
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1-2 weeks after arrival of the sample in the lab