Achondroplasia is a disease that is caused by a mutation in the gene FGFR3 fibroblast growth factor receptor 3 gene. Its meaning is "without cartilage formation." It is sometimes inherited, but usually occurs at time of conception. This mutation affects the growth of bone. People affected by this disorder are short statured and have an average height of 4foot 4 in males and 4 foot 1 in females. Appearance wise, these people tend to have disproportionate arms and legs, a large head, and a prominent forehead.
This condition can be found through DNA testing for parents with it, an ultrasound may also show it before birth. Most of the time, the features are visible from birth but it is evident on a x-ray and many times a bone study is performed. As of now, there is no treatment achondroplasia. People who have achondroplasia are more than capable of living healthy lives. Although, they do tend to have ear infections commonly and troubles with obesity. Infants may have weak muscles and a delay in walking and other motor skills.
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