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Achondroplasia Facts

This article contains some interesting achondroplasia facts. For example, achondroplasia comes from the Greek for "without cartilage formation." It occurs when cartilage has difficulty converting to bone. This condition usually results in dwarfism. For more achondroplasia facts, please visit eMedTV's achondroplasia health channel.

 

Achondroplasia Facts: An Overview

Achondroplasia is a Greek word that means "without cartilage formation." Achondroplasia occurs when cartilage has difficulty converting to bone, which usually results in dwarfism.
 

Cause of Achondroplasia

There are two possible causes of achondroplasia. The first cause is a gene mutation in the fibroblast growth factor receptor 3 gene, also known as FGFR3. The second possible cause is an inherited gene from a parent with achondroplasia.
 

Symptoms of Achondroplasia

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

Facts About Achondroplasia Treatment

Achondroplasia treatment involves preventing or treating the conditions that occur as a result of the disease. Some of the treatable achondroplasia-related conditions include:
 
  • Recurring ear infections
  • Breathing disorders (apnea)
  • Obesity.
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Successful achondroplasia treatment relies heavily on family and social support.
 

Cure for Achondroplasia

Although a cure for achondroplasia does not exist, there are treatment options available to help treat the signs, symptoms, and health conditions that occur as a result of achondroplasia.
 
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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD
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