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THE DIAGNOSIS OF MARFAN SYNDROME

The diagnosis of Marfan Syndrome is done according to the 1996 Ghent nosology and is based on symptoms. All the possible symptoms must be considered. This interactive program works through each of the organ systems and requests information about each possible symptom in turn. The program then evaluates major and minor criterion symptoms and presents a positive or negative diagnosis or recommends additional investigation of the organ systems where there is insufficient information. (If "No" is selected where there is insufficient information, an incorrect negative diagnosis could result.)

NOTE: USERS OF THIS TOOL: In order to keep this diagnosis tool online, we would sincerely appreciate a donation to SAMSO for the maintenance of the website. This will allow others to benefit from the tool and keep SAMSO alive
CARDIOVASCULAR SYSTEM (Heart and arteries)
Dilation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva
Yes No
Unknown
Dissection of the ascending aorta (tearing of inner wall)
Yes No
Unknown
Mitral valve prolapse with or without mitral valve regurgitation
Yes No
Unknown
Dilation of the main pulmonary artery, in the absence of valvular or peripheral pulmonic stenosis or any other obvious cause, below the age of 40 years
Yes No
Unknown
Calcification of the mitral annulus below the age of 40 years
Yes No
Unknown
Dilation or dissection of the descending thoracic or abdominal aorta below the age of 50 years
Yes No
Unknown
OCULAR SYSTEM (Eyes)
Ectopia lentis (detached lenses)
Yes No
Unknown
Abnormally flat cornea
Yes No
Unknown
Increased axial length of globe (causing myopia)
Yes No
Unknown
Hypoplastic iris or hypoplastic ciliary muscle causing decreased miosis (iris & pupil)
Yes No
Unknown
Early development of nuclear cataracts
Yes No
Unknown
Open angle glaucoma
Yes No
Unknown
SKELETAL SYSTEM (Bones and joints)
Pectus carinatum (pigeon chest)
Yes No
Unknown
Pectus excavatum (tunnel chest) requiring surgery
Yes No
Unknown
Reduced upper to lower segment ratio, or arm span to height ratio greater than 1.05
Yes No
Unknown
Wrist and thumb signs (thumb and small finger meet around opposite wrist and thumb protrudes when fingers make a fist over it)
Yes No
Unknown
Scoliosis of +20° or spondylolisthesis
Yes No
Unknown
Reduced extension at the elbows (-170°)
Yes No
Unknown
Medial displacement of the medial malleolus causing pes planus (flat foot)
Yes No
Unknown
Protrusio acetabulae of any degree in hip joint
Yes No
Unknown
Pectus excavatum (tunnel chest) of moderate severity
Yes No
Unknown
Joint hypermobility
Yes No
Unknown
Highly arched palate with crowding of teeth
Yes No
Unknown
Facial appearance (long narrow head, hollow cheeks, hollow eyed, recessed or protruding jaw)
Yes No
Unknown
DURA SYSTEM (Spinal cord)
Lumbosacral dural ectasia (enlargement of spinal cord) Yes No
Unknown
PULMONARY SYSTEM (Lungs)
Spontaneous pneumothorax (lung collapse)
Yes No
Unknown
Apical bullae
Yes No
Unknown
SKIN AND INTEGUMENT
Striae atrophicae (stretch marks) not associated with marked weight changes, pregnancy or repetitive stress
Yes No
Unknown
Recurrent or incisional herniae (ruptures)
Yes No
Unknown
FAMILY/GENETIC HISTORY
Having a parent, child or sibling who meets the diagnostic criteria independently
Yes No
Unknown
Presence of a mutation in FBN1 known to cause Marfan Syndrome
Yes No
Unknown
Presence of a haplotype around FBN1, inherited by descent, known to be associated with unequivocally diagnosed Marfan Syndrome in the family
Yes No
Unknown