Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
[cohen syndrome]
Cohen
syndrome
(
CS
)
is
a
rare
autosomal
recessive
condition
caused
by
mutations
and
/
or
large
rearrangements
in
the
VPS
13
B
gene
.
CS
clinical
features
,
including
developmental
delay
,
the
typical
facial
gestalt
,
chorioretinal
dystrophy
(
CRD
)
and
neutropenia
,
are
well
described
.
CS
diagnosis
is
generally
raised
after
school
age
,
when
visual
disturbances
lead
to
CRD
diagnosis
and
to
VPS
13
B
gene
testing
.
This
relatively
late
diagnosis
precludes
accurate
genetic
counselling
.
The
aim
of
this
study
was
to
analyse
the
evolution
of
CS
facial
features
in
the
early
period
of
life
,
particularly
before
school
age
(
6
years
)
,
to
find
clues
for
an
earlier
diagnosis
.
Photographs
of
17
patients
with
molecularly
confirmed
CS
were
analysed
,
from
birth
to
preschool
age
.
By
comparing
their
facial
phenotype
when
growing
,
we
show
that
there
are
no
special
facial
characteristics
before
1
year
.
However
,
between
2
and
6
years
,
CS
children
already
share
common
facial
features
such
as
a
short
neck
,
a
square
face
with
micrognathia
and
full
cheeks
,
a
hypotonic
facial
appearance
,
epicanthic
folds
,
long
ears
with
an
everted
upper
part
of
the
auricle
and
/
or
a
prominent
lobe
,
a
relatively
short
philtrum
,
a
small
and
open
mouth
with
downturned
corners
,
a
thick
lower
lip
and
abnormal
eye
shapes
.
These
early
transient
facial
features
evolve
to
typical
CS
facial
features
with
aging
.
These
observations
emphasize
the
importance
of
ophthalmological
tests
and
neutrophil
count
in
children
in
preschool
age
presenting
with
developmental
delay
,
hypotonia
and
the
facial
features
we
described
here
,
for
an
earlier
CS
diagnosis
.
Diseases
Validation
Diseases presenting
"long ears with an everted upper part of the auricle"
symptom
cohen syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom