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In most cases, this common type of short-limbed dwarfism is related to a genetic mutation in the fibroblast growth factor receptor 3 gene. There are two possible causes of achondroplasia. One possible cause is a genetic mutation in the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4.The other possible cause is that the condition can be inherited from a parent with achondroplasia.here are two possible causes of achondroplasia. One possible cause is a genetic mutation in the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4.
Pathophysiology. Achondroplasia is caused by mutations in the fibroblast growth factor receptor-3 (FGFR3) gene. Mutations within FGFR3 are the only genetic changes known to cause achondroplasia.FGFR3 has been mapped to the short arm of chromosome 4, p16.3 (4p16.3).ackground. Achondroplasia, a nonlethal form of chondrodysplasia, is the most common type of short-limb dwarfism. This skeletal dysplasia is inherited as a Mendelian autosomal dominant trait with complete penetrance.