What is achondroplasia?
Achondroplasia, a bone growth disorder, is the most common cause of dwarfism. Achondroplasia means ‘absence of cartilage formation’. However, the defect in achondroplasia is not in the formation of the cartilage but is in the conversion of cartilage to bone (particularly the long bones). Achondroplasia may run in families or may result from a spontaneous mutation.
The average height of a man with achondroplasia is 52 inches (131 cm, or 4 foot 4 inches). A woman with achondroplasia reaches an average height of 49 inches (124 cm, or 4 foot 1 inch). The appearance of a person with achondroplasia is distinctive as they have a short height with disproportionately small limbs. The features of achondroplasia are apparent at birth. Achondroplasia can also be detected in the fetal stage.