Achondroplasia Symptoms

Common symptoms of achondroplasia include short stature, short arms and legs, and an enlarged head. In many cases, adults with the condition will develop a pronounced sway of the lower back. Achondroplasia symptoms may also be associated with several health problems, including breathing disorders, obesity, and recurrent ear infections.

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.
 

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

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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What Is Achondroplasia?

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