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Achondroplasia

Achondroplasia

Achondroplasia is a genetic disorder in which the child has a mutated (abnormal) gene called FGFR3 that is responsible for growth and development. Such infants display prominently short arms and thighs, in other words are dwarfs. They may also exhibit lax joints, overtly curved spine, protruding forehead and flat nose.Diagnosis is made clinically and by X-ray. The foetus can be diagnosed by ultrasound but the test is not reliable. Treatment available is only symptomatic.

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