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[Kabuki syndrome].
[kabuki syndrome]
Kabuki
syndrome
(
OMIM
:
#
147
920
)
presents
as
large
palpebral
fissures
with
eversion
of
the
lateral
third
of
the
lower
eyelids
,
depressed
nasal
bridge
,
arched
eyebrows
,
dysplastic
ears
and
in
most
cases
,
with
mental
retardation
.
Patients
have
minor
and
major
abnormalities
in
different
systems
.
Its
genetic
basis
is
heterogeneous
,
but
recently
has
been
associated
with
mutations
in
gen
MLL
2
.
We
present
two
patients
with
clinical
features
compatibles
with
the
syndrome
,
mainly
:
large
palpebral
fissures
with
eversion
of
the
lateral
third
of
the
lower
eyelids
,
depressed
nasal
bridge
,
arched
eyebrows
,
flat
nose
,
persistent
fingertip
pads
,
cardiopathies
and
renal
anomalies
.
The
diagnosis
of
this
condition
is
clinical
.
The
characteristics
in
the
cases
are
compared
with
the
patients
reported
in
the
literature
.
The
importance
of
early
diagnosis
is
to
provide
preventive
management
and
an
appropriate
genetic
counseling
for
the
family
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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