Overview

Achondroplasia is an inherited disorder of bone growth that causes the most common type of dwarfism and belongs to one of the groups of disorders collectively called chondrodystrophies.

Achondroplasia can be diagnosed on the basis of characteristic clinical and radiographic findings in most affected individuals. Abnormal bone growth results in short stature with disproportionately short arms and legs, a large head with frontal bossing, a narrow thorax, a waddling gait, and characteristic facial features.(see the images below). Intelligence and life span are usually normal, though the risk of infant death from compression of the cervical spinal cord and/or upper airway obstruction is increased.