International Day of Persons with Disabilities (IDPD): What Is Achondroplasia: Is It Related To Dwarfism?

What Is Achondroplasia?

Achondroplasia is a genetic condition that is the most common cause of dwarfism. It is characterized by shorter stature, meaning people are much shorter than average. It affects a protein in the body known as the fibroblast growth factor receptor. This protein does not work properly, which slows down the growth of bones in the cartilage of the growth plate. 

As a result, bones become shorter and have unusual shapes, leading to shorter stature. Adults with achondroplasia typically have a height between 42 and 56 inches. In this condition, much of the fetal skeleton is made up of cartilage tissue, which turns into bone. This genetic disorder leads to short-limb dwarfism with the upper parts of arms and legs shorter than the lower portions of those limbs.

Is Dwarfism And Achondroplasia The Same Thing?

Dwarfism and achondroplasia are relatively related but they are not the same thing. Dwarfism is a general term that refers to being much shorter than average, usually defined as an adult height of 4 feet 10 inches (147 cm) or shorter. There are many different types of dwarfism, caused by various genetic and medical factors. 

In contrast, Achondroplasia is a specific genetic condition and is the most common cause of dwarfism. It happens because of a change in the fibroblast growth factor receptor gene, which affects the growth of bones. People with achondroplasia typically have a normal-sized torso but shorter arms and legs. 

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How To Diagnose Achondroplasia

Before the birth of the baby, doctors can use ultrasounds to detect achondroplasia. If the baby’s arms and legs appear shorter than average and if their head is large, it can be considered as a case of achondroplasia. However, in most cases, it is not confirmed until the birth of the baby.

Doctors can go for physical examinations and even have prenatal examinations. Genetic testing, along with MRI or CT scans can also be done to identify muscle weakness or spinal cord compression. However, as of writing this, there is no medical cure for achondroplasia. 

What Are Treatments Of Achondroplasia?

While there is no cure for achondroplasia, there are a few treatments to help manage its complications and improve the quality of life for people with the condition. These treatments aim to address specific issues that can happen, such as spine problems, bowed legs, and breathing difficulties. 

In some cases, surgery or physical therapy may be recommended to improve mobility or correct bone problems. Support from specialists, such as genetic counsellors or physiotherapists, can also be helpful for families and individuals.

The surgical interventions include: 

• Spinal Fusion: Corrects severe spinal curvature (kyphosis or scoliosis) and stabilizes the spine.

• Guided Growth Procedure (GGP): Helps correct bowed legs in children by controlling bone growth.

• Osteotomy: Involves cutting and realigning bones in the legs to correct bowing.

It can also be treated through medications:

• Vosoritide: A newer treatment that promotes growth by targeting the genetic mutation causing achondroplasia; administered as a daily injection.

• Growth Hormone Therapy: May be used for other growth-related issues, although not directly effective for achondroplasia.

Conclusion

IDPD serves as a vital reminder of the importance of advocating for the rights and well-being of individuals with disabilities. This year, we got to know about Achondroplasia, a genetic condition that causes short-limb dwarfism. However, it's important to remember that it is just one type of dwarfism. Although there is no cure, treatments such as surgery and other medical care can help manage the challenges of the condition, allowing individuals to live fulfilling lives. Supporting people with achondroplasia highlights the importance of healthcare and the need to embrace diversity, ensuring equal opportunities for everyone.