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Anchondroplasia is basically dwarfism that has been caused due to a bone defect. This condition creates disproportionate height and growth wherein the patient has a normal sized torso, albeit with short arms and legs. This basically happens when the cartilage does not turn into bone during one’s growing years, due to a lack of the protein created by the FGFR3 gene.
HOW IS ACHONDROPLASIA DIAGNOSED?
Diagnosis of Achondroplasia can be done by orthopaedics through: • Physical exam • X-Rays • Genetic testing • Prenatal genetic testing
HOW IS ACHONDROPLASIA TREATED?
There is no known cure or precise treatment for Achondroplasia. Antibiotics are prescribed for any ear infections and surgery may be recommended for severe cases of spinal stenosis. Some growth hormones are used to increase the growth of the bones however their long term benefits have not been determined as yet.
DID YOU KNOW?
People suffering from this condition usually have a normal life span.