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Descriptor English: Marfan Syndrome
Descriptor Spanish: Síndrome de Marfan
Descriptor Portuguese: Síndrome de Marfan
Descriptor French: Syndrome de Marfan
Entry term(s): Marfan Syndrome, Type I
Marfan's Syndrome
Marfans 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
RDF Unique Identifier: https://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, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 1985; see ARACHNODACTYLY 1963-1984
History Note: 1985; use ARACHNODACTYLY 1963-1984
Related: Loeys-Dietz Syndrome MeSH
Weill-Marchesani Syndrome MeSH
DeCS ID: 8554
Unique ID: D008382
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1985/01/01
Date of Entry: 1999/01/01
Revision Date: 2019/05/17
Marfan Syndrome - Preferred
Concept UI M0013029
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, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
Preferred term Marfan Syndrome
Entry term(s) Marfan's Syndrome
Marfans Syndrome
Marfan Syndrome, Type I - Narrower
Concept UI M000649009
Preferred term Marfan Syndrome, Type I



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