Tests and Treatments
Parents are able to do prenatal testing for achondroplasia. There was a survey taken of parents with kids that have the disease and some of their relatives; less than 10% of the parents has actually taken the prenatal test. Other than the prenatal test, there is not a specific test for achondroplasia.
Diagnostics includes characteristic clinical and X-ray findings for kids old enough with this disease. For kids that are too young to make a diagnosis with absolute certainty, genetic testing is extremely useful for finding a mutation in the FGFR3 gene.
Diagnostics includes characteristic clinical and X-ray findings for kids old enough with this disease. For kids that are too young to make a diagnosis with absolute certainty, genetic testing is extremely useful for finding a mutation in the FGFR3 gene.
Medical Fixes
There is not an exact medical cure for achondroplasia. However, some doctors will have a procedure done to add about 30 cm to the leg length; growth hormones can also be used if someone wishes to take them. Surgery helps to prevent spinal compressions and correct bowed legs. If a child is diagnosed with achondroplasia, it is necessary to drain fluid from the brain to relieve pressure.