Marfan DX

Know the signs. Fight for victory.

Marfan DX

A Diagnostic Tool for Healthcare Professionals

We compiled the 2010 Revised Ghent Nosology for Marfan Syndrome into a simple diagnostic tool to put the updated criteria right in your hands in an easy-to-use format for your Android or iPhone smartphone, certain desktop internet browsers (Firefox and Safari), and NOOK Color. It is designed for all healthcare professionals involved in the diagnosis of Marfan syndrome, including general practitioners and specialists such as pediatricians, cardiologists, orthopedists, ophthalmologists, and geneticists.


Diagnosis or Marfan syndrome requires a coordinated effort by various specialists. Marfan DX is not meant to replace careful and comprehensive consultation among physicians and their patients, but to facilitate accurate consideration of the important elements of a correct diagnosis.

The site features:

  • Seven simple to follow formulae to determine if the cardinal features and lesser features, combined with family history and genetic testing, "add up" to a diagnosis of Marfan syndrome. Expandable text makes the formulae easy to follow.
  • Interactive Systemic Score Calculator used to consider the lesser characteristics of Marfan syndrome throughout the body that can be key in making the diagnosis. This too has expandable text and graphics, as well as a function for emailing results for the patient file.
  • Interactive Z-score calculator used to determine the size of the aorta compared to body surface area. This can also be emailed for the patient file.
  • Key points about the role of genetic testing and family history.
  • Important information on differential diagnosis and related disorders.
  • Helpful links and resources.