Achondroplasia is a Greek word that means "without cartilage formation." Achondroplasia occurs when cartilage has difficulty converting to bone, which usually results in dwarfism.
- 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.
FGFR3 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.)
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