It can be challenging for doctors to diagnose Marfan syndrome because many connective tissue disorders have similar signs and symptoms. Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely — both in their features and in their severity.
The confirmation of a diagnosis of Marfan syndrome must be based on the presentation of certain combinations of symptoms and family history
. In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder.
Following are tests needed for determining the syndrome:
- Heart tests
- Eye tests: Slit-lamp exam and eye pressure test
- Genetic testing
Consult your doctor for more information.
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