One of the most common forms of disproportionate dwarfism, Achondroplasia is a bone disorder which is caused by a gene mutation. Clinical symptoms of Achondroplasia include short stature with disproportionate arms and legs that are short, prominent forehead, shirt fingers, mid face hypoplasia, short fingers and specific facial features. Some other symptoms of Achondroplasia are bowed legs, back pain, obesity and difficulty in breathing and recurrent ear infection.
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?
A gene mutation is known to cause Achondroplasia. It is not an inherited disorder as over 80% of people suffering from Achondroplasia have parents with normal stature.