Achondroplasia is a genetic disorder that causes short-limbed dwarfism, affecting bone growth and development in children and adults
It is the most common form of short-limbed dwarfism, occurring in about 1 in 15,000 to 40,000 births worldwide.
Achondroplasia is caused by a mutation in the FGFR3 gene, which codes for a protein involved in bone growth and development.
The condition can be inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene causes the disorder.
Common characteristics include short stature, bowed legs, limited elbow mobility, and a prominent forehead.
Individuals with achondroplasia may experience health complications like sleep apnea, ear infections, and spinal stenosis.
Diagnosis is often made prenatally or at birth, with genetic testing confirming the FGFR3 mutation in most cases.
Treatment focuses on managing complications, improving mobility, and promoting overall health through physical therapy, surgery, and medical interventions.
Advances in medical care and surgical techniques have significantly improved the quality of life and life expectancy for individuals with achondroplasia.
Ongoing research into targeted therapies and gene therapy offers hope for future treatments that may further enhance the lives of those affected by achondroplasia.