Bones
Medications
Related eMedTV
Health Channels

Symptoms of Achondroplasia

One of the most common symptoms of achondroplasia is short stature. Other symptoms of achondroplasia include: short fingers, short arms and legs, and an enlarged head.

 

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.
 

Symptoms of Achondroplasia: Short Stature

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 Symptoms of Achondroplasia

Characteristic symptoms of achondroplasia include:
 
  • An average-size trunk.
     
  • Short arms and legs with particularly short upper arms and thighs.
     
  • An enlarged head (macrocephaly) with a prominent forehead.
     
  • Fingers are typically short. The ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance.
     
People with achondroplasia are generally of normal intelligence.
 

Symptoms of Achondroplasia and Health Problems

Health problems commonly associated with achondroplasia include:
 
  • Breathing disorders (apnea)
  • Obesity
  • 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.
 
Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD
Other Articles in This eMedTV Presentation