Achondroplasia

Overview

What is Achondroplasia?

Achondroplasia is a genetic type of dwarfism. Dwarfism is a type of condition that causes a person to be of much shorter than average height. Achondroplasia is specifically a form of short-limbed dwarfism, which implies that people with the condition have shorter arms and legs than the general population. Achondroplasia is the most common form of dwarfism.

Genetic changes in the FGFR3 gene can lead to achondroplasia. People with achondroplasia have poor cartilage to bone conversion. Cartilage is the bendable, but strong material that makes up your ears and the tip of your nose. When babies are first developing, much of the skeleton is initially made of cartilage. This cartilage then needs to transform into bone in a process named ossification. When someone has a genetic change in the FGFR3 gene causing achondroplasia, ossification does not occur at the usual rate. This process is especially slowed in the legs and the arms. This causes people with achondroplasia to have shorter arms and legs than the average person.

To learn more about achondroplasia, contact a genetic counselor for more information. Use the Find a Genetic Counselor page at the National Society of Genetic Counselors' website to locate a genetic counselor near you.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/achondroplasia-8259/overview/74 • DATE UPDATED: 2016-09-09

References

http://ghr.nlm.nih.gov/condition/achondroplasia

http://www.ncbi.nlm.nih.gov/books/NBK1152/

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