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How does the mutation that causes achondroplasia form?


Do all babies with a parent that is a dwarf get achondroplasia?

Genetic mutation
About 80 per cent of people born with achondroplasia have average-sized parents. This means that the genetic mutation that causes achondroplasia occurs during conception, when the mother's egg is fertilised by the father's sperm. It is not known why this genetic mutation occurs, or how the mutation translates into the characteristics of achondroplasia. Twenty per cent of people born with achondroplasia inherit the faulty gene from an affected parent. If one parent has achondroplasia, then their child has a 50 per cent chance of inheriting the gene for the condition. If both parents have achondroplasia, then their child has a one in four risk of inheriting the faulty gene from both parents, which causes a fatal condition known as 'double dominant' or homozygous achondroplasia.

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