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.
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.