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[The "heart-hand" syndrome in a 8-year-old-boy with short stature].
[holt-oram syndrome]
"
Heart
-
hand
"
syndrome
is
a
broad
category
of
diseases
.
The
most
common
form
is
Holt-
Oram
syndrome
(
HOS
)
that
occurs
in
approximately
1
:
100
000
live
births
.
It
is
characterized
by
upper
limb
defects
(
carpal
bone
defects
,
triphalangeal
thumbs
,
hypoplasia
or
absence
of
the
thumb
and
the
radial
ray
)
and
cardiac
septal
defects
(
atrial
septal
defects
or
ventricular
septal
defects
)
.
There
are
three
main
types
of
"
heart
-
hand
"
syndromes
.
"
Heart
-
hand
"
syndrome
type
I
--
HOS
is
characterised
by
atrial
septal
defect
and
thumb
anomaly
,
type
II
(
Tabatznik
syndrome
)
by
short
distal
phalanx
of
the
thumb
,
upper
limb
abnormalities
and
cardiac
arrhythmias
,
type
III
by
cardiac
conduction
diseases
and
shortening
of
the
middle
phalanges
.
The
aim
of
this
report
is
to
present
a
new
case
of
the
"
heart
-
hand
"
syndrome
in
the
family
.
This
diagnosis
was
established
on
the
base
of
clinical
examination
,
radiological
findings
,
and
echocardiography
.
Our
patient
demonstrates
congenital
bilateral
absence
of
a
radial
bone
and
thumbs
,
dextrocardia
and
patent
foramen
ovale
.
Diseases
Validation
Diseases presenting
"common form"
symptom
achondroplasia
alexander disease
benign recurrent intrahepatic cholestasis
cadasil
child syndrome
classical phenylketonuria
cutaneous mastocytosis
erythropoietic protoporphyria
familial mediterranean fever
hereditary cerebral hemorrhage with amyloidosis
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
oral submucous fibrosis
pendred syndrome
primary hyperoxaluria type 1
severe combined immunodeficiency
thoracic outlet syndrome
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