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Bulldog Dwarfism (also known as Bulldog Calf Syndrome or Congenital Bovine Chondrodysplasia) is a severe developmental disorder in cattle which results in stillborn, misshapen calves. The disorder is caused by a recessive mutation to the gene ACAN, which affects cartilage development. We test for the BD1 variant of the disorder, which is primarily found in the Dexter breed. There is also a rarer variant, BD2, which results from a mutation in the same ACAN gene and was found in a particular bull lineage. VHLGenetics does not perform a test for this variant.
Specifications
Chromosome: 21
Gene: ACAN
Mode of Inheritance: Autosomal Recessive Lethal
Organ: Skeletal system
Sub-organ: Whole skeleton
Species:Cattle
Year published: 2007
Clinical Features
Affected fetuses show excessive dwarfism and abnormalities in cartilage development. Natural abortion takes place around 7th month of pregnancy. Carriers of Bulldog Dwarfism show mild dwarfism, particularly in the form of shortened legs.
References
Omia: 1271
Pubmed: 17952705