Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Finger creases lend a hand in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
syndrome
associating
malformations
with
intellectual
deficiency
and
numerous
visceral
,
orthopedic
,
endocrinological
,
immune
and
autoimmune
complications
.
The
early
establishment
of
a
diagnostic
of
KS
leads
to
better
care
of
the
patients
and
therefore
prevents
complications
such
as
perception
deafness
,
severe
complications
of
auto-immune
diseases
or
obesity
.
However
,
the
diagnosis
of
KS
remains
difficult
because
based
on
the
appreciation
of
facial
features
combined
with
other
highly
variable
features
.
We
describe
a
novel
sign
,
namely
the
attenuation
and
/
or
congenital
absence
of
the
IPD
crease
of
the
third
and
fourth
fingers
associated
with
limitation
of
flexion
of
the
corresponding
joints
,
which
seems
to
be
specific
of
KS
and
could
help
the
clinician
to
diagnose
KS
.
Diseases
Validation
Diseases presenting
"deafness"
symptom
dentinogenesis imperfecta
epidermolysis bullosa simplex
hirschsprung disease
kabuki syndrome
kallmann syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
oculocutaneous albinism
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
