Bones Home > Articles on Achondroplasia
This Web page provides links to several short articles on achondroplasia. Achondroplasia is a bone growth disorder that usually results in dwarfism. This disease occurs when cartilage has difficulty converting to bone. For additional articles on achondroplasia, please visit eMedTV's achondroplasia health channel.
Achondroplasia OverviewAchondroplasia is a Greek word that means "without cartilage formation." Achondroplasia occurs when cartilage has difficulty converting to bone, which usually results in dwarfism.
Causes of AchondroplasiaThe two achondroplasia causes are:
- A mutation of the fibroblast growth factor receptor 3 (FGFR3) gene
- Inheriting an altered FGFR3 gene from a parent with achondroplasia.
About 80% of achondroplasia cases are the result of a gene mutation.
(Click Cause of Achondroplasia to learn more about what causes this disease.)
Role of the FGFR3 GeneFGFR3 is the acronym for fibroblast growth factor receptor 3 (FGFR3). The FGFR3 protein plays a role in the development and maintenance of bone and brain tissue. Researchers believe that this receptor regulates bone growth by limiting the formation of bone from cartilage, particularly in the long bones. Mutations in the FGFR3 gene can lead to achondroplasia.
(Click FGFR3 Gene for more information about this gene's role in achondroplasia.)