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MARFAN SYNDROME
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DeCS
Descriptor
English
:
Marfan Syndrome
Descriptor
Spanish
:
Síndrome de Marfan
Descriptor
Portuguese
:
Síndrome de Marfan
Synonyms
English
:
Marfan Syndrome, Type I
Marfan's Syndrome
Marfans Syndrome
Syndrome, Marfan
Syndrome, Marfan's
Tree Number:
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
Definition
English
:
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.
See Related
English
:
Loeys-Dietz Syndrome
Weill-Marchesani Syndrome
History Note
English
:
1985; use ARACHNODACTYLY 1963-1984
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Record Number:
8554
Unique Identifier:
D008382
Occurrence in VHL
:
Similar:
DeCS