The diagnostic evaluation for Marfan syndrome is unavoidably complex due to the highly variable presentation of affected individuals, the age-dependent nature of many of its manifestations, the absence of gold standards, and its extensive differential diagnosis. This is sometimes challenging for doctors who don’t have extensive experience with Marfan syndrome or related conditions.

We created tools based on the most up-to-date diagnostic criteria to assist healthcare providers evaluate a patient who has features indicative of Marfan syndrome or a related condition. Please review and download our Marfan syndrome diagnosis checklist and visit MarfanDX.org to learn how these tools can help you care for your patients.