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Organizations

• International Federation of Marfan Syndrome Organizations
• National Marfan Foundation
• Canadian Marfan Association
• Marfan Association UK
• Marfan Network Japan
• More National Organizations...

Similar disorders - Differential Diagnosis

A very good interacive program summarizing the diagnostic criteria of Marfan Syndrome (according to the 1996 Ghent nosology, based on symptoms) is provided at http://www.marfan.org.za/diagnosis.html

 

Mutation of the FBN1 gene

Other disorders can be caused by the mutation of the FBN1 gene. The mutation of different genes that aid in the formation of connective tissue can also lead doctors to misdiagnose Marfan Syndrome. Many other disorders are closely related and produce very similar symptoms.  We have listed some of the disorders related to Marfan Syndrome and the symptoms they have in common.

 

Stickler Syndrome

A rare group of connective tissue disorders that affects the formation of collagen.
It is autosomnal dominant which means a child has a 50% chance of inheriting the abnormal gene if either parent already has the disorder.

·            Myopia or farsightedness
·            Scoliosis or curved spine
·            Mitral valve prolapse
·            Detached retina
·            Similar body type to MFS but individuals aren’t tall

 

Congenital Contractural Arachnodactyly (CCA)

This genetic disorder is also known as Beals Syndrome. It’s caused by a mutation in the FBN2 gene which is closely related to the FBN1 gene.  Treatment is the same as patients with Marfan Syndrome.

·            Mitral valve prolapse
·            Skeletal similarities
·            Enlarged aorta
·            Long, thin fingers & toes
·            Scoliosis or curved spine
·            Chest deformities
·            Small jaw & highly arched palates
·            Long narrow body
·            Joint problems (can’t fully extend them which is opposite to MFS patients)

 

 

 

Loeys-Dietz

Very similar disorder to Marfan Syndrome caused by a mutation in the TGFBR2 gene and affecting the blood vessels, especially the aorta.

·            Scoliosis or curved spine
·            Joint hyperextension
·            Long fingers
·            Congenital heart problems
·            Chest deformities
·            Aortic aneurysm

 

Familial Aortic Aneurysm (FFA)

An inherited disorder that causes an aneurysm to develop in the aorta. An aneurysm is a bulge in a blood vessel that can be fatal if it bursts.  They usually appear in the chest cavity or in the abdomen below the kidneys.  FFA can cause the valve to tear or rupture similar to Marfan Syndrome.

·            Enlarged aorta
·            Aortic dissection
·            Skeletal similarities

 

Homocystinuria (HCY)

A metabolic disorder caused by a defective enzyme that prohibits the body from processing certain amino acids properly.

·            Myopia or farsightedness
·            Tall stature
·            Mitral valve prolapse
·            Chest deformities
·            Long, thin arms, legs & fingers
·            Scoliosis or curved spine
·            Skeletal & skin similarities
·            Dislocation of eye lens

 

 

 

 

Ehlers-Danlos Syndrome (EDS)

A group of rare, hereditary collagen disorders that mainly affects the skin and joints.

·            Enlarged aorta
·            Aortic dissection
·            Skin similarities
·            Skeletal similarities

 

 

 

Shprintzen-Goldberg Syndrome

A very rare group of disorders that are autosomal dominant and caused by a mutation of the FBN1 gene.  The physical characteristics are very similar to individuals with Marfan Syndrome.

·            Enlarged aorta
·            Narrow face & small jaw
·            Heart defects
·            Tall stature
·            Long, slim arms, legs, fingers and toes
·            Joint hyperextension 
·            Skin similarities
·            Skeletal similarities