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Kabuki syndrome: diagnostic and treatment considerations.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
genetic
disorder
first
diagnosed
in
1981
.
Unknown
by
most
primary
care
physicians
and
clinicians
in
the
mental
health
fields
,
children
with
KS
present
with
unique
facial
characteristics
,
mental
retardation
,
health
problems
and
socio-emotional
delays
that
are
often
mistaken
for
other
diagnostic
problems
.
Literature
detailing
the
psychological
and
psychosocial
features
of
this
disorder
is
scant
,
and
psychotherapeutic
approaches
have
not
been
described
.
In
this
article
,
we
present
a
case
description
and
treatment
of
a
child
with
KS
and
her
family
.
A
brief
review
of
KS
is
then
provided
,
highlighting
its
signs
and
symptoms
.
Factors
related
to
differential
diagnoses
are
identified
to
aid
primary
care
and
mental
health
clinicians
in
better
understanding
this
unique
syndrome
.
Interventions
with
similar
populations
are
discussed
from
which
a
psychological
approach
to
KS
is
suggested
.
Finally
,
implications
for
primary
care
physicians
are
described
and
suggestions
for
further
research
indicated
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated