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What is achondroplasia?

Achondroplasia is a genetic disorder that prevents cartilage from developing into bone, especially in the long bones of the arms and legs. The condition is a type of osteochondrodysplasia, which involves abnormal bone and cartilage growth that causes several types of short stature (dwarfism).

Cartilage is strong, yet flexible, connective tissue that supports and cushions bones, organs and other tissues. Achondroplasia affects the cartilage in the growth plates (areas of new bone growth), usually at the ends of long bones. The disrupted bone development leads to short, wide bones with curved ends.

What causes achondroplasia?

Achondroplasia results from gene mutations (changes) in the FGFR3 gene, which affects how cartilage develops. These mutations can sometimes be inherited from a parent who also has achondroplasia, but in about 80% of cases, achondroplasia occurs in babies who have no family history of the condition. These cases result from new gene mutations that happen at conception.

Who gets achondroplasia?

As the most common type of short-limbed short stature (dwarfism), achondroplasia occurs in about one of every 26,000 live births.

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