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MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL
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DeCS
Descriptor
English
:
Weill-Marchesani Syndrome
Descriptor
Spanish
:
Síndrome de Weill-Marchesani
Descriptor
Portuguese
:
Síndrome de Weill-Marchesani
Synonyms
English
:
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
Weill Marchesani Syndrome
Weill-Marchesani Syndrome, Autosomal Recessive
Tree Number:
C05.116.099.343.957
C05.116.099.875
C11.270.921
C16.131.077.941
C16.320.290.842
C16.320.887
C17.300.899
Definition
English
:
Rare congenital disorder of
connective tissue
characterized by
brachydactyly
, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia,
ECTOPIA LENTIS
;
GLAUCOMA
), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
See Related
English
:
Marfan Syndrome
History Note
English
:
2010
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
53490
Unique Identifier:
D056846
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS