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Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Achondroplasia has an autosomal dominant pattern of inheritance. However, most cases are the result of a new mutation. There is full penetrance of the condition and little variation in expressivity.

The underlying defect involves fibroblast growth factor receptor 3 protein, on chromosome 4.

Diagnosis of this condition can be made by ultrasound in the second trimester.

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