Automated Marfan Syndrome Checklist
David W. Stockton, M.D., F.A.C.M.G.

Based on: Revised Diagnostic Criteria for the Marfan Syndrome. De Paepe A, Devereux RB, Dietz H, Hannekam RCM, and Pyeritz R. American Journal of Medical Genetics 62: 417-426, 1996.

The 2010 Revised Ghent Criteria checklist is also available.

Additional information at MIM 154700, GeneReviews, GeneTests, and the National Marfan Foundation

EXAMINER
EXAMINATION DATE
NAME 
DOB 
SEX 
M F
WEIGHT 
(kg grams pounds)
HEIGHT 
(cm inches)
FOC 
(cm inches)

MARFAN CRITERIA CHECKLIST
SKELETAL
Y
N
?
 
Major (Presence of at least 4 of the following manifestations)
pectus carinatum
pectus excavatum requiring surgery
reduced upper to lower segment ratio OR arm span to height ratio >1.05
Height Arm span Upper segment Lower segment (cm inches)
wrist (Note 1) and thumb (Note 2) signs
scoliosis of >20° or spondylolisthesis
reduced extension at the elbows (<170°)
medial displacement of the medial malleolus causing pes planus
protrusio acetabulae of any degree (ascertained on radiographs)
 
Minor
pectus excavatum of moderate severity
joint hypermobility
high arched palate with crowding of teeth
facial appearance
dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures
INVOLVEMENT: 2 major criteria or 1 major and 2 minor
OCULAR
 
Major
ectopia lentis
 
Minor
abnormally flat cornea (as measured by keratometry)
increased axial length of the globe (as measured by ultrasound)
hypoplastic iris or hypoplastic ciliary muscle causing decreased miosis
INVOLVEMENT: 2 minor criteria
CARDIOVASCULAR
 
Major
dilatation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva
Aortic root diameter (cm) Z-score,   Date of echo
Height (cm inches),  Weight (kg grams pounds)
dissection of the ascending aorta
 
Minor
mitral valve prolapse with or without mitral valve regurgitation
dilatation of the main pulmonary artery, in the absence of valvular or peripheral pulmonic stenosis below the age of 40 years
calcification of the mitral annulus below the age of 40 years
dilatation or dissection of the descending thoracic or abdominal aorta below the age of 50 years
INVOLVEMENT: 1 minor criterion
PULMONARY
 
Minor (only)
spontaneous pneumothorax
apical blebs (ascertained by chest radiography)
INVOLVEMENT: 1 minor criterion
SKIN AND INTEGUMENT
 
Minor (only)
striae atrophicae (stretch marks) not associated with marked weight changes, pregnancy or repetitive stress
recurrent or incisional hernias
INVOLVEMENT: 1 minor criterion
DURA
 
Major
lumbosacral dural ectasia by CT or MRI
FAMILY/GENETIC HISTORY
 
Major
first degree relative who independently meets the diagnostic criteria.
NAME
RELATIONSHIP Father Mother Sibling Child
presence of mutation in FBN1 known to cause Marfan syndrome
presence of haplotype around FBN1 inherited by descent and unequivocally associated with diagnosed Marfan syndrome in the family
     

Diagnostic criteria interpretation
Index case: Relative of index case:
Unlikely diagnosis of Marfan syndrome.

Differential Diagnosis:

Notes

  1. wrist sign - thumb overlaps the distal phalanx of the fifth digit when grasping the contralateral wrist.
  2. thumb sign - entire nail of the thumb projects beyond the ulnar border of the hand when the hand is clenched without assistance.
  3. See the images reference page for examples and explanations.
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