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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 for achondroplasia; 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: a short stature with proportionately short arms and legs, a large head, a prominent forehead, and a 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, and 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.
 
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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD