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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
a
rare
,
recessively
inherited
condition
associated
with
facial
dysmorphism
,
developmental
delay
,
and
visual
disability
.
A
delay
in
making
the
diagnosis
commonly
occurs
,
contributed
to
by
the
lack
of
a
definitive
molecular
test
and
the
clinical
variability
of
published
case
reports
.
A
specific
clinical
phenotype
has
been
delineated
in
a
homogeneous
cohort
of
Finnish
Cohen
syndrome
patients
,
but
the
applicability
of
their
diagnostic
criteria
to
non-
Finnish
patients
has
been
debated
.
Detailed
delineation
of
Cohen
syndrome
in
patients
from
outside
Finland
is
therefore
warranted
.
We
report
on
the
clinical
features
of
33
non-
Finnish
Cohen
syndrome
patients
.
Variability
within
the
clinical
spectrum
is
identified
and
the
natural
history
of
Cohen
syndrome
described
.
Diagnostic
guidelines
for
facilitating
accurate
and
early
diagnosis
are
discussed
.
Results
from
molecular
genetic
analysis
using
markers
located
within
the
previously
mapped
COH
1
critical
region
support
allelic
but
not
genetic
heterogeneity
in
this
UK
cohort
.
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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