ACHONDROPLASIA

Achondroplasia is a disorder of bone growth that causes the most common type of growth hormone deficiency. Achondroplasia is a genetic condition that results in abnormally short stature and is the most common cause of short stature. Although Achondroplasia means “without cartilage formation,” the defect in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones. Achondroplasia is one of the oldest known birth defects. Symptoms of Achondroplasia may include bowed legs, decreased muscle tone, disproportionately large head to body size ratio, prominent forehead, shortened arms and legs, short stature abnormal hand appearance, and spinal stenosis. People with achondroplasia seldom reach five feet in height. Infants who receive the abnormal gene from both parents do not often live beyond a few months. Complications may include clubbed feet and hydrocephalus (fluid build up in the brain).

T1 weighted MRI image of a child with Achondroplasia.