Marfan Syndrome
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.
Year introduced: 1985
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Tree Number(s): C05.116.099.674, C14.240.400.725, C14.280.400.725, C16.131.077.550, C16.131.240.400.720, C16.320.540, C17.300.500
MeSH Unique ID: D008382
Entry Terms:
- Marfan's Syndrome
- Marfans Syndrome
- Marfan Syndrome Type 1
- Marfan Syndrome, Type I
- Marfan Syndrome Type 2
- Marfan Syndrome, Type II
- Marfan Like Connective Tissue Disorder
See Also: