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Holt-Oram syndrome.
[holt-oram syndrome]
The
Holt-
Oram
syndrome
or
atriodigital
dysplasia
is
an
autosomal
dominant
disorder
with
near
complete
penetrance
and
variable
expression
,
caused
by
mutations
of
the
TBX
5
gene
(
12
q
24
.
1
)
,
affecting
one
in
100
000
live
births
.
60
%
of
cases
are
familial
and
40
%
sporadic
.
We
present
the
case
of
a
24
years
old
male
patient
with
a
personal
history
of
bilateral
coxa
vara
surgically
corrected
on
the
right
at
the
age
of
8
years
,
complicated
by
osteochondritis
,
short
stature
(
160
cm
)
,
underweight
(
37
kg
,
BMI
14
.
45
kg
/
cm
(
2
)
)
,
triangular
face
,
micrognathia
,
down
slanting
palpebral
fissures
,
hypertelorism
,
low
set
ears
,
scoliosis
,
narrow
shoulders
,
shortened
left
arm
,
left
thumb
agenesia
,
limited
supination
,
abnormal
toes
,
hypoplastic
muscles
,
atrial
septal
defect
ostium
secundum
type
,
incomplete
right
bundle
branch
block
,
hypoacusia
and
normal
intelligence
.
Diseases
Validation
Diseases presenting
"hypoacusia and normal intelligence"
symptom
holt-oram syndrome
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