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?
Treatments of achondroplasia can be done with growth hormones. People with orthopaedic complication may be treated with tracheotomy, surgeries, draining excessive fluid from brain, physical therapies, back braces for improving shape of spine, proper nutrition and exercises that can treat skeletal problems.
DID YOU KNOW?
People with Achondroplasia generally have normal intelligence levels. It could be inherited by parents. When one parent has Achondroplasia then a child has 50% chance of getting it. A few of the dog breeds have been classified as “achondroplastic"" eg basset hound, dachshund, bull dog, etc.