Rare Diseases Symptoms Automatic Extraction
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Cohen syndrome with insulin resistance and seizure.
[cohen syndrome]
Cohen
syndrome
is
a
rare
,
genetic
,
connective-tissue
disorder
with
the
genetic
abnormality
linked
to
chromosome
8
q
22
.
The
diagnosis
of
Cohen
syndrome
is
based
on
the
recognition
of
certain
clinical
findings
,
which
include
mental
retardation
,
typical
morphologic
stigmata
(
e
.
g
.
,
truncal
obesity
,
hypotonia
,
short
philtrum
,
prominent
frontal
incisors
,
high-arched
palate
,
narrow
hands
and
feet
)
,
and
characteristic
ophthalmologic
abnormalities
.
We
report
a
patient
manifesting
the
typical
characteristics
of
Cohen
syndrome
with
seizure
and
hyperinsulinemia
.
Diseases
Validation
Diseases presenting
"high-arched palate"
symptom
achondroplasia
cohen syndrome
kabuki syndrome
This symptom has already been validated