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WILLIAMS SYNDROME
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DeCS
Descriptor
English
:
Williams Syndrome
Descriptor
Spanish
:
Síndrome de Williams
Descriptor
Portuguese
:
Síndrome de Williams
Synonyms
English
:
Elfin Facies Syndrome
Contiguous Gene Syndrome, Williams
Tree Number:
C10.597.606.643.970
C14.280.484.150.535.960
C16.131.260.970
C16.320.180.970
Definition
English
:
A disorder caused by hemizygous microdeletion of about 28
genes
on chromosome 7q11.23, including the
ELASTIN
gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS;
MENTAL RETARDATION
; elfin
facies
; impaired visuospatial constructive abilities; and transient
HYPERCALCEMIA
in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Indexing Annotation
English
:
do not confuse with Williams-Campbell
syndrome
, a congenital
cartilage
deficiency
See Related
English
:
Elastin
Mental Retardation
History Note
English
:
96
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:
32574
Unique Identifier:
D018980
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS