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Symptoms of Achondroplasia

Occurring in all people with the bone growth disorder, short stature is a characteristic symptom of achondroplasia. Health problems that may occur in someone with achondroplasia include obesity, breathing disorders, and recurrent ear infections. Other achondroplasia symptoms include short fingers, short arms and legs, and an enlarged head.

 

An Overview of Achondroplasia Symptoms

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 of Achondroplasia

Characteristic symptoms of the disorder 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.
 

Health Problems As Symptoms of Achondroplasia

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.
 
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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD