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A case report on holt-oram syndrome (heart-hand).
[holt-oram syndrome]
The
Holt
-
Oram
Syndrome
(
HOS
)
or
the
Heart
-
Hand
syndrome
is
considered
as
an
overt
autosomal
hereditary
disease
with
a
complete
influential
effect
and
variable
expression
that
emerges
due
to
a
genetic
mutation
.
It
can
be
vividly
characterized
by
heart
disorders
and
deficiencies
in
hand
structure
.
Despite
the
existing
genetic
heterogeneity
,
the
variable
integration
between
HOS
and
the
T
-BX
5
gene
from
the
T
-BOX
Gene
Complex
has
been
observed
during
which
various
mutations
have
been
reported
in
the
affected
patients
.
The
T
-BOX
Gene
Complex
is
located
on
chromosome
12
(
12
q
24
.
1
)
,
and
is
able
to
encode
a
copying
factor
.
That
has
a
conservative
motive
with
180
amino
acids
.
The
deficiencies
in
only
1
/
3
of
patients
have
been
observed
caused
by
the
mutation
of
this
gene
.
This
case
was
a
10
-
year
-old
child
with
hand
disorders
,
incomplete
growth
of
clavicle
,
moving
problems
in
elbow
joint
and
shoulder
,
disorder
in
ventricle
and
auricle
walls
.
The
disease
was
diagnosed
as
HOS
,
based
on
clinical
examination
and
drawing
the
family
tree
diagram
.
It
was
impossible
to
investigate
molecular
mutation
due
to
inaccessibility
to
the
patient
.
By
investigating
the
family
members
and
their
deficiencies
and
imaging
disorder
variables
according
to
different
reports
as
well
as
parents
'
state
of
health
,
the
HOS
can
be
defined
as
an
overt
heredity
resulting
from
a
new
mutation
in
the
germinating
layer
of
sexual
cells
in
one
of
the
parents
.
There
is
a
weak
possibility
that
the
disease
results
from
a
mosaic
mutation
in
the
male
parent
's
testicle
or
the
female
parent
's
ovum
.
In
this
case
,
the
probability
for
the
disease
to
be
repeated
in
parents
'
next
children
will
be
guessed
between
1
and
50
%
.
Diseases
Validation
Diseases presenting
"variable expression that emerges due to a genetic mutation"
symptom
holt-oram syndrome
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