What are the symptoms?Achondroplasia is apparent at birth. A child with the condition has a relatively normal torso but short arms and legs, a larger head and prominent forehead. What causes it?Achondroplasia is caused by an abnormality in a gene located on chromosome 4, called fibroblast growth factor receptor (FGFR3). Sometimes the child inherits achondroplasia from a parent who has the condition, but in about 80 per cent of cases the problem results from a new mutation of a gene. Who's affected?About one in 20,000 children has achondroplasia. It affects all races. When inherited, it's an autosomal dominant condition. What's the treatment?There's no cure for achondroplasia. Occasionally, surgery is carried out to increase height, but this can be complicated and painful. Antenatal testing for the condition is available.
This article was last medically reviewed by Dr Rob Hicks in October 2007
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