Achondroplasia | Causes, Signs, Standard Therapies, Prevention in children & More

Achondroplasia causes

Achondroplasia causes

Achondroplasia is a genetic disease that results from a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The FGFR3 gene is responsible for the formation of a protein required for bone and brain tissue development. Normal fibroblast growth factor receptor 3 reduces the rate of bone growth. Genetic mutations make the FGFR3 protein overactive opposing skeletal development and leading to bone growth disturbances. Cartilage cannot fully develop into complete bone.