Rare Diseases Symptoms Automatic Extraction
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[Kabuki syndrome].
[kabuki syndrome]
Kabuki
syndrome
(
OMIM
:
#
147
920
)
presents
as
large
palpebral
fissures
with
eversion
of
the
lateral
third
of
the
lower
eyelids
,
depressed
nasal
bridge
,
arched
eyebrows
,
dysplastic
ears
and
in
most
cases
,
with
mental
retardation
.
Patients
have
minor
and
major
abnormalities
in
different
systems
.
Its
genetic
basis
is
heterogeneous
,
but
recently
has
been
associated
with
mutations
in
gen
MLL
2
.
We
present
two
patients
with
clinical
features
compatibles
with
the
syndrome
,
mainly
:
large
palpebral
fissures
with
eversion
of
the
lateral
third
of
the
lower
eyelids
,
depressed
nasal
bridge
,
arched
eyebrows
,
flat
nose
,
persistent
fingertip
pads
,
cardiopathies
and
renal
anomalies
.
The
diagnosis
of
this
condition
is
clinical
.
The
characteristics
in
the
cases
are
compared
with
the
patients
reported
in
the
literature
.
The
importance
of
early
diagnosis
is
to
provide
preventive
management
and
an
appropriate
genetic
counseling
for
the
family
.
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