A disorder of the bone growth, Achondroplasia is one of the most common forms of disproportionate dwarfism and is caused by a gene mutation. Symptoms of Achondroplasia include short physique with unreasonably short arms and legs, a large head (macrocephaly), short fingers and specific facial features with a prominent forehead and mid-face hypoplasia. Breathing problems, recurrent ear infections, obesity, back pain and bowed legs are some other symptoms of Acondroplasia.
HOW IS ACHONDROPLASIA DIAGNOSED?
Genetic testing suggested by a general physician can diagnose Achondroplasia in young children while for older people, diagnosing involves clinical and X-ray findings.
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.