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PRADER-WILLI SYNDROME
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DeCS
Descriptor
English
:
Prader-Willi Syndrome
Descriptor
Spanish
:
Síndrome de Prader-Willi
Descriptor
Portuguese
:
Síndrome de Prader-Willi
Synonyms
English
:
Labhart-Willi Syndrome
Royer Syndrome
Tree Number:
C10.597.606.643.690
C16.131.077.730
C16.131.260.700
C16.320.180.700
C18.654.726.500.740
Definition
English
:
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal
chromosome 15
(15q11-q13) or by inheritance of both of the pair of
chromosomes
15 from the mother (
UNIPARENTAL DISOMY
) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA;
HYPERPHAGIA
;
OBESITY
; short stature;
HYPOGONADISM
;
STRABISMUS
; and HYPERSOMNOLENCE. (Menkes, Textbook of Child
Neurology
, 5th ed, p229)
See Related
English
:
Intellectual Disability
History Note
English
:
1977
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:
11655
Unique Identifier:
D011218
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS