Achondroplasia

Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0" (1.22 metres). The disorder is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FBFR3), which causes an abnormality of cartilage formation. It occurs at a frequency of about 1 in 20,000 to 1 in 40,000 births.

See also

• List of rare diseases