Achondroplasia

Achondroplasia Achondroplasia is a genetic disorder that affects the growth of the bone. Achondroplasia is evident at birth. It affects about every 25,000 births and all races and sexes. People with this disorder have arms and legs that are very short. The torso is more normal sized. The word Achondroplasia is derived from Greek and means no cartilage formation, people with it do have cartilage. During childhood cartilage usually turns into bone. Something goes wrong in …

…of a protein that is located on the surface of cells of different tissue types, including cartilage. The protein normally responds to single form chemicals called growth factors which stimulate cell growth and maturation. Now scientists are investigating how the faulty protein actually causes the features of Achondroplasia. This eventually may lead to improve treatments for this disorder, as well as improved understanding and treatment of other skeletal disorder caused by this family of gene.