Bones Home > What Is Achondroplasia?

Many people wonder, "What is achondroplasia?" Achondroplasia is a bone growth disorder that affects 1 in every 15,000 to 40,000 births. The disease results in dwarfism and is caused by mutations in the FGFR3 (fibroblast growth factor receptor 3) gene. There is no cure; however, there is treatment to improve the symptoms and health conditions that occur as a result of the disease.

An Introduction to Achondroplasia Disease

Achondroplasia disease (achondroplasia) is a bone growth disorder that affects 1 in every 15,000 to 40,000 births. Characteristics of a person with achondroplasia include:
 
  • Short stature with proportionately short arms and legs
  • Large head
  • Prominent forehead
  • Flattened bridge of the nose.
 

What Causes Achondroplasia?

So what causes achondroplasia? There are two possible causes of this disease. The first is a gene mutation in the FGFR3 (fibroblast growth factor receptor 3) gene. This gene plays a role in the development and maintenance of bone and brain tissue. The second cause of achondroplasia is inheriting a gene from a parent who has this condition.
 

Achondroplasia Symptoms

Achondroplasia symptoms include a short stature, short arms and legs, and an enlarged head. These symptoms may also be associated with the following health problems:
 
  • Breathing disorders
  • Obesity
  • Reduced muscle strength
  • Recurrent ear infections.
 

Treatments for Achondroplasia

Existing achondroplasia treatments can prevent or treat the signs, symptoms, or health conditions that occur as a result of achondroplasia. However, as of yet, there is no cure for achondroplasia.
 
Written by/reviewed by:
Last reviewed by: Arthur Schoenstadt, MD
Last updated/reviewed:
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