Growth Hormone Therapy and Surgery Are Effective Options for Achondroplasia Treatment
Achondroplasia is a genetic disorder of bone development that prevents bone changes in cartilage (especially in the long bones of the hands and feet). It is characterized by the limited range of motion at the elbows, dwarfism, small fingers, large head size, and normal intelligence. Achondroplasia is caused by a change in the FGFR3 (fibroblast growth factor receptor 3) gene and occurs as a result of a spontaneous genetic mutation in around 80% of patients, with the remaining 20% inherited from parents. Individuals with achondroplasia have short stature. The average height in men is 4 feet 4 inches and in women is 4 feet 1 inch. Achondroplasia treatment may include medications with growth hormone and surgery to correct an abnormal curvature of the spine (or bone problems), as to reduce the pressure inside the brain in cases of hydrocephaly. Achondroplasia is known to affect 1 in 15,000 to 40,000 newborns. The average adult height of those affected ranges from 4 feet to 4.4 feet. I