Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A new case of MOMO syndrome.
[kabuki syndrome]
MOMO
syndrome
,
a
condition
described
in
three
earlier
patients
,
is
a
constellation
of
macrosomia
,
obesity
,
macrocephaly
,
and
ocular
abnormalities
as
the
main
findings
.
We
report
a
6
-
year
-old
child
with
these
findings
as
well
as
significant
developmental
issues
,
delayed
bone
age
,
clavicular
pseudoarthrosis
,
and
straight
femurs
.
We
believe
that
this
child
should
be
considered
as
having
MOMO
syndrome
.
Careful
consideration
of
his
facial
features
shows
some
overlap
with
Kabuki
syndrome
.
Description
of
this
case
may
help
to
better
elucidate
the
clinical
features
of
MOMO
syndrome
.
Diseases
Validation
Diseases presenting
"obesity"
symptom
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
carcinoma of the gallbladder
cohen syndrome
congenital adrenal hyperplasia
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
kabuki syndrome
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
sneddon syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated