How is diastrophic dysplasia diagnosed?

How is diastrophic dysplasia diagnosed?

Sometimes diastrophic dwarfism can be detected before an affected baby is born. If your family has a history of the disorder, your healthcare team may recommend genetic testing early in pregnancy.

The condition also may be revealed by fetal ultrasonography. This test provides pictures of a baby as it develops in the womb. If the images show shortened or deformed bones, the healthcare provider might recommend genetic testing for diastrophic dysplasia.

But the condition usually is identified when a baby is born. The diagnosis is based on physical examination and imaging tests that show deformed or shortened bones.