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 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
- Reduced muscle strength
- Recurrent ear infections.