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RETT SYNDROME
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DeCS
Descriptor
English
:
Rett Syndrome
Descriptor
Spanish
:
Síndrome de Rett
Descriptor
Portuguese
:
Síndrome de Rett
Synonyms
English
:
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia
Tree Number:
C10.597.606.643.455.937
C16.320.322.500.937
C16.320.400.525.937
Definition
English
:
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected
female
is normal until the age of 6-25 months when progressive loss of voluntary
control
of hand movements and
communication
skills;
ATAXIA
;
SEIZURES
; autistic
behavior
; intermittent
HYPERVENTILATION
; and
HYPERAMMONEMIA
appear. (From Menkes, Textbook of Child
Neurology
, 5th ed, p199)
See Related
English
:
Intellectual Disability
History Note
English
:
90
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:
24868
Unique Identifier:
D015518
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS