:: National Marfan Foundation ::

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Related Disorders

Sometimes a person may have one or more features of Marfan syndrome, but not have enough features to meet the diagnostic criteria for Marfan syndrome.

“Differential diagnosis” is the process of weighing the probability of one disease or disorder versus that of other diseases or disorders possibly accounting for a patient's illness or symptoms.

People may have disorders related to Marfan syndrome, such as other connective tissue disorders or metabolic disorders that closely resemble Marfan syndrome. A doctor will likely consider several conditions in the differential diagnosis to determine the actual diagnosis.

Regardless of the diagnosis, it is important to follow recommended treatments for the particular symptoms that do exist to make sure further problems do not result. For example, a person may not have enough features to be diagnosed with Marfan syndrome, but can still have an enlarged aorta. In this case, the aorta should still be monitored at regular intervals even though there is no Marfan diagnosis.

If the condition is hereditary, ensure proper evaluation of other family members who may be at risk.

Following is a list of some related disorders and their relation to Marfan syndrome:

Marfan Related Disorders
Condition	Symptom Overlap with Marfan Syndrome	Mutation in Fibrillin-1 Gene?
Loeys-Dietz Syndrome	Aortic enlargement and dissection. Variable skeletal findings	No
Familial Aortic Aneurysm	Aortic enlargement and dissection. Variable skeletal findings	Generally not
Bicuspid Aortic Valve with Aortic Dilation	Aortic enlargement and/or dissection	Unknown
Familial Ectopia Lentis (Dislocated Lens)	Eye lens dislocation Common skeletal findings	Yes
MASS phenotype, Mitral Valve Prolapse, Myopia	Borderline aortic enlargement Skin and skeletal findings	At least sometimes
Marfanoid Habitus (Marfan Body Type)	Skeletal findings	At least sometimes
Mitral Valve Prolapse Syndrome	Mitral valve prolapse Variable skeletal findings	At least sometimes
Congenital Contractural Arachnodactyly (CCA or Beals syndrome)	Mitral valve prolapse Variable skeletal findings	No (FBN-2 mutation)
Stickler Syndrome	Myopia Retinal detachment Joint hypermobility or contracture Scoliosis Mitral Valve Prolapse	No (Collagen genes mutation)
Shprintzen-Goldberg Syndrome	Aortic enlargement Skin and skeletal findings	Rare
Ehlers-Danlos Syndrome	Skin and skeletal findings Aortic enlargement/dissection in selected types only	No (Collagen gene mutation)
Homocystinuria	Mitral Valve Prolapse Eye lens dislocation Skin and skeletal findings	No (metabolic disorder)

Additional information about some related disorders can be found by clicking the menu to the left.

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