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Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association.
[kabuki syndrome]
Kabuki
syndrome
was
first
described
in
Japan
in
1981
as
a
rare
disorder
of
unknown
cause
.
Its
main
features
include
characteristic
facies
,
postnatal
growth
retardation
,
and
mental
delay
.
To
date
,
there
is
no
molecular
marker
for
Kabuki
syndrome
,
which
is
considered
genetically
heterogeneous
and
still
is
a
clinically-based
diagnosis
.
Here
we
describe
the
first
case
of
a
patient
affected
by
Kabuki
syndrome
associated
with
lymphatic
dysplasia
.
We
suggest
accurate
evaluation
of
all
Kabuki
patients
as
early
as
possible
in
order
to
diagnose
lymphedema
or
other
clinical
manifestations
of
lymphatic
system
involvement
.
Early
identification
of
lymphatic
system
maldevelopment
provides
the
best
chance
for
reducing
the
risk
of
developing
progressive
lymphedema
with
associated
tissue
changes
(
fibrosis
,
sclerosis
,
and
fat
deposition
)
.
Diseases
Validation
Diseases presenting
"early identification"
symptom
22q11.2 deletion syndrome
allergic bronchopulmonary aspergillosis
congenital toxoplasmosis
cutaneous mastocytosis
esophageal carcinoma
kabuki syndrome
krabbe disease
phenylketonuria
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