Bones Home > What Are the Causes of Achondroplasia?

People concerned about the condition may wonder what causes achondroplasia. This form of short-limbed dwarfism can be caused by a genetic mutation in the fibroblast growth factor receptor 3 gene. This is the most common cause. In other cases, the causes of achondroplasia are linked to a parent with the condition passing the gene to his or her child.

An Introduction to the Causes of Achondroplasia

There are two possible causes of achondroplasia. One possible cause is a genetic mutation in the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4. Achondroplasia can also be inherited from a parent with the condition.

Genetic Mutations That Cause Achondroplasia

Most people with achondroplasia have average-size parents, which means that the cause of achondroplasia is from a new mutation in the FGFR3 gene. Scientists do not know why this mutation occurs.

Inherited Genes

Achondroplasia can also be inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, one of the parents with achondroplasia passes on the FGFR3 gene to the child.
If one parent has achondroplasia, children have a 50 percent chance of inheriting the FGFR3 gene. If both parents have achondroplasia, children have a one in four chance of inheriting the gene from both parents. Newborns who inherit both genes are considered to have a severe form of achondroplasia, where survival is usually less than 12 months after birth.
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Last reviewed by: Arthur Schoenstadt, MD
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