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Craniosynostosis in Kabuki syndrome.
[kabuki syndrome]
Niikawa-
Kuroki
,
or
Kabuki
syndrome
(
KS
)
,
is
characterized
by
distinctive
facial
features
,
skeletal
anomalies
,
persisting
fingertip
pads
with
dermatoglyphic
abnormalities
,
short
stature
,
and
mental
retardation
.
Neurological
manifestations
and
CNS
anomalies
have
been
described
in
some
patients
with
this
condition
.
However
,
craniosynostosis
has
been
documented
in
only
4
patients
with
KS
who
did
not
undergo
operations
.
The
authors
report
a
case
of
KS
with
unicoronal
synostosis
that
constitutes
the
first
documented
instance
of
a
patient
with
this
syndrome
submitted
to
surgery
.
Previous
reported
instances
of
craniosynostosis
occurring
in
KS
are
briefly
reviewed
.
Although
rarely
documented
,
craniosynostosis
might
represent
a
relatively
frequent
feature
of
this
syndrome
.
Kabuki
syndrome
should
be
considered
at
the
time
of
evaluating
children
with
craniosynostosis
.
The
diagnosis
of
KS
can
be
suspected
from
the
patients
'
characteristic
facial
features
.
Kabuki
syndrome
appears
to
be
an
underdiagnosed
condition
in
the
craniosynostosis
population
.
Given
that
most
patients
with
this
syndrome
suffer
from
only
mild
to
moderate
mental
retardation
,
surgical
correction
can
be
considered
in
instances
of
KS
with
craniosynostosis
.
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