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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.
About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents.Individuals who inherit two altered copies of this gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage.wo specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.