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Marfan Syndrome MeSH Descriptor Data 2025


MeSH Heading
Marfan Syndrome
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
Unique ID
D008382
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D008382
Scope Note
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.
Entry Term(s)
Marfan Like Connective Tissue Disorder
Marfan Syndrome Type 1
Marfan Syndrome Type 2
Marfan Syndrome, Type I
Marfan Syndrome, Type II
Marfan's Syndrome
NLM Classification #
QZ 192
See Also
Loeys-Dietz Syndrome
Weill-Marchesani Syndrome
Public MeSH Note
1985; see ARACHNODACTYLY 1963-1984
History Note
1985; use ARACHNODACTYLY 1963-1984
Date Established
1985/01/01
Date of Entry
1999/01/01
Revision Date
2022/05/23
Marfan Syndrome Preferred
Marfan Syndrome Type 2 Narrower
Marfan Syndrome Type 1 Narrower
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