What is Achondroplasia

Achondroplasia is a genetic disorder that affects bone growth, resulting in dwarfism. It is the most common form of short-limbed dwarfism, occurring in approximately 1 in every 15,000 to 40,000 births.

Achondroplasia is caused by a mutation in the FGFR3 gene, which is responsible for regulating bone growth. This mutation leads to abnormal cartilage formation and impaired bone growth, particularly in the long bones of the arms and legs.

Individuals with achondroplasia typically have short stature, with disproportionately short arms and legs. They may also have a larger head with a prominent forehead and a flattened bridge of the nose. Other common features include a swayback, limited range of motion in the elbows, and bowed legs.

Achondroplasia is usually diagnosed shortly after birth based on physical characteristics and confirmed through genetic testing. While there is no cure for achondroplasia, treatment focuses on managing symptoms and complications. This may involve regular monitoring of growth, physical therapy, and surgical interventions to address specific issues like spinal stenosis or limb deformities.

It is important to note that individuals with achondroplasia can lead fulfilling lives and achieve normal cognitive development. With appropriate medical care and support, they can overcome challenges associated with their condition and thrive in various aspects of life.