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.

What Is Achondroplasia?

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.