In 1994, it was discovered that a mutation of the gene found on chromosome 4 causes achondroplasia. It is known as the "fibroblast growth factor receptor-3" (FGFR3). The way in which mutations in FGFR3 cause achondroplasia are currently being researched.
Achondroplasia is considered to be a Dominantly Inhereted Disorder, which means the disorder is due to a dominant allele. A common misconception of dominant and recessive alleles is that dominant means it is dominant in the population, but this is false. A dominant allele means that it is fully expressed in the organism's appearance, whereas a recessive allele has no noticeable effect on the organism's appearance.
In general, a person can be a carrier of a disease and not show any symptoms, but that is not the same in the case of achondroplasia.
In over 80% of cases, achondroplasia is not inherited, but results from a new mutation that occurred.
Click on "Links" on the menu bar to find helpful resources related to achondroplasia on the World Wide Web.