Diagnostic Criteria for Marfan Syndrome (MFS)

Marfan syndrome is currently diagnosed using criteria based on an evaluation of the family history, molecular data, and 6 organ systems.

Diagnostic Criteria for Marfan Syndrome (MFS)


The Ghent criteria consist of major and minor criteria. The major criteria are features or symptoms that are common in people with Marfan syndrome and rare in people who do not have the syndrome.

Minor criteria are features or symptoms that are present in people with Marfan syndrome, but are also present in people who do not have it.

To be diagnosed with Marfan syndrome using the Ghent criteria, you must have a number of different criteria as described below.

If you have a family history of Marfan syndrome, you will need to have one of the major criteria and one of the minor criteria that affect different systems in your body, such as your skeleton and your blood vessels.
If you do not have a family history of Marfan syndrome, you will need to have two major criteria and one of the minor criteria that affect different systems in your body.

ILAR Classification Criteria for Juvenile Idiopathic Arthritis (JIA)

Juvenile idiopathic arthritis is a heterogeneous group of diseases characterised by arthritis of unknown origin with onset before age of 16 years.

International League of Associations for Rheumatology (ILAR) classification of juvenile idiopathic arthritis (JIA)

JIA can be diagnosed if age at onset is under 16 years, disease duration is 6 weeks or greater, and other known conditions are excluded.

• Systemic-onset JIA: Systemic arthritis is diagnosed if there is arthritis in 1 or more joints with, or preceded by, fever of at least 2 weeks' duration. Signs or symptoms must have been documented daily for at least 3 days and accompanied by 1 or more of the following: evanescent rash, generalised lymphadenopathy, hepato/splenomegaly, serositis. (Exclusions are A, B, C, and D from the exclusion list below.)
• Persistent or extended oligoarthritis: Oligoarthritis is diagnosed if there is arthritis affecting 1 to 4 joints during the first 6 months. Persistent oligoarthritis affects up to 4 joints throughout the course of the disease, and extended oligoarthritis affects more than 4 joints after the first 6 months of disease. (Exclusions are A, B, C, D, and E from the exclusion list below.)
• RF-negative polyarthritis: Polyarthritis (RF-negative) is diagnosed if there is rheumatoid factor (RF)-negative arthritis affecting 5 or more joints during the first 6 months of disease. (Exclusions are A, B, C, D, and E from the exclusion list below.)
• RF–positive polyarthritis: Polyarthritis (RF-positive) is diagnosed if there is RF-positive arthritis affecting 5 or more joints during the first 6 months of disease. Two or more RF tests (taken at least 3 months apart) are positive during the first 6 months of disease. (Exclusions are A, B, C, and E from the exclusion list below.)
• Psoriatic JIA: Psoriatic arthritis is diagnosed if there is arthritis and psoriasis, or arthritis and at least 2 of the following: dactylitis, nail pitting, onycholysis, and/or family history of psoriasis (in a first-degree relative). (Exclusions are B, C, D, and E from the exclusion list below.)
• Enthesitis-related arthritis: Enthesitis-related arthritis is diagnosed if there is arthritis and/or enthesitis with at least 2 of the following: presence or history of sacroiliac joint tenderness with or without inflammatory lumbosacral pain; presence of HLA B27 antigen; onset of arthritis in a male over 6 years of age; acute (symptomatic) anterior uveitis; history of ankylosing spondylitis, enthesitis-related arthritis, sacroiliitis with inflammatory bowel disease, Reiter's syndrome, or acute anterior uveitis in a first-degree relative. (Exclusions are A, D, and E from the exclusion list below.)
• Undifferentiated: Undifferentiated arthritis is diagnosed if there is arthritis that does not fulfil criteria in any of the above categories or that fulfils criteria for 2 or more of the above categories.