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Toggle27) Achondroplasia

Achondroplasia is a genetic disorder that affects bone growth, leading to several distinctive features. It is characterized by an enlarged head, shortened limbs, and reduced overall height. Individuals with achondroplasia also commonly have a pronounced forehead and a flattened bridge of the nose. This condition results from a mutation in the FGFR3 gene, which impacts the development of cartilage into bone.