Achondroplasia

Achondroplasia is the most common dwarfism related condition. People with the condition have an average sized trunk and short arms and legs. It is a condition affecting a single gene called FGFR3 which results in abnormal cartilage formation. The protein made by the FGFR3 gene is a receptor that regulates bone growth by limiting the formation of bone from cartilage (a process called ossification), particularly in the long bones. With achondroplasia, the FGFR3 gene causes the receptor to be overly active, which interferes with ossification and leads to the disturbances in bone growth seen with this disorder. It is estimated to occur in approximately 1 in every 26,000 births.