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Achondroplasia
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Most people with achondroplasia are born to average size parents. Achondroplasia is due to a change in the gene that codes for Fibroblast Growth Factor Receptor 3. (FGFR3). In almost all cases the single base change is exactly the same. The prevalence of Achondroplasia is 1 in 25,000 children.
Average size parents of a child with Achondroplasia have very small chance of having another child with the condition.
For parents with Achondroplasia the inheritance pattern is autosomal dominant.
Prenatal diagnosis
Ultra sound scans may detect disproportionately short limbs at around twenty-five weeks of pregnancy. For couples where one or both has the condition, a chorionic villus sampling test is available at twelve weeks of pregnancy.
How is it treated?
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