Achondroplasia Underlying Cause
Although achondroplasia is a genetic condition, it does not appear to be passed on directly from the parents. The gene mutation that causes achondroplasia seems to occur in the affected individual. This means that parents without achondroplasia, who have one child with achondroplasia, have a low risk of having a second child with achondroplasia. On the other hand, if one parent has achondroplasia and the other does not, there is a 50% chance that each child will have achondroplasia.
Molecular genetic testing can be used to detect a mutation in the FGFR3 gene. As many as 99% of individuals with achondroplasia will have a mutation of the FGFR3 gene.
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