Marfan Syndrome Diagnostic Criteria Checklist ((top)) -

After reviewing Emma's symptoms, medical history, family history, and the results of her tests against the diagnostic criteria checklist, the geneticist diagnosed Emma with Marfan syndrome.

In the absence of a family history, Marfan syndrome is diagnosed if:

Enlargement of the sac around the spinal cord, usually confirmed via MRI or CT.

Limited elbow extension (<170 degrees)