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?
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?
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?
Achondroplasia affects 25000 to 50000 babies and is a common birth defect acquired genetically from parents. Hormonal and metabolic disorders are the most common triggers of achondroplasia in humans.