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WALKER-WARBURG SYNDROME
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DeCS
Descriptor
English
:
Walker-Warburg Syndrome
Descriptor
Spanish
:
Síndrome de Walker-Warburg
Descriptor
Portuguese
:
Síndrome de Walker-Warburg
Synonyms
English
:
alpha-Dystroglycanopathies
Cerebromuscular Dystrophy, Fukuyama Type
Chemke Syndrome
Fukuyama Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy
Muscle-Eye-Brain Disease
Muscular Dystrophy, Congenital, Fukuyama Type
Warburg Syndrome
Tree Number:
C10.500.507.450.499.249.500
C11.270.881
C16.131.666.507.450.499.249.500
C16.320.577.750
Definition
English
:
Rare autosomal recessive
lissencephaly
type 2 associated with congenital
MUSCULAR DYSTROPHY
and eye anomalies (e.g.,
RETINAL DETACHMENT
;
CATARACT
;
MICROPHTHALMOS
). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common
congenital abnormalities
in the brain, eye and
muscle development.
See Related
English
:
Dystroglycans
History Note
English
:
2011
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:
53966
Unique Identifier:
D058494
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS