Signs and Symptoms of Achondroplasia: An Overview
Achondroplasia is a bone growth disorder. Although achondroplasia literally means "without cartilage formation," the problem is not the forming of cartilage. The problem occurs when the cartilage has difficulty converting to bone, especially in the long bones of the arms and legs.
All people with achondroplasia have a short stature. The average height of an adult male with achondroplasia is 131 centimeters (52 inches, or 4 feet 4 inches), and the average height of an adult female with achondroplasia is 124 centimeters (49 inches, or 4 feet 1 inch).
Other signs and symptoms of achondroplasia can include:
- An average-size trunk.
- An enlarged head (macrocephaly) with a prominent forehead.
- Short fingers. The ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance.
- Short arms and legs with particularly short upper arms and thighs.
People with achondroplasia are generally of normal intelligence.
Achondroplasia Symptoms and Health Problems
Health problems commonly associated with achondroplasia include:
- Obesity
- Breathing problems (apnea)
- Recurrent ear infections (otitis media).
Adults with achondroplasia usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Achondroplasia can also cause
back pain in older individuals, which can cause difficulty with walking.
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