Achondroplasia | Diagnosis and Treatment

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How is achondroplasia diagnosed?

Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with achondroplasia.

What are the treatment options for achondroplasia?

Currently, there is no way to prevent achondroplasia, since most cases result from unexpected new mutations. Doctors may treat some children with growth hormone, but this does not significantly affect the height of the child with achondroplasia. In some very specific cases, surgeries to lengthen legs may be considered.

It is very important to check for bone abnormalities, especially in the back. These problems can cause breathing difficulties and leg pain. Kyphosis or "hunch-back" may need to be corrected through surgery if it does not correct itself when your child starts to walk. There is another surgery to help bowing of the legs.

Some children may have ear infections. These should be treated as soon as possible to prevent hearing loss. Dental problems may need to be addressed by an orthodontist.

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