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Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.
[holt-oram syndrome]
The
important
roles
that
T
-
box
genes
play
in
the
morphogenesis
of
the
heart
and
its
conduction
system
has
long
been
established
,
and
a
number
of
disorders
are
linked
to
mutations
in
these
T
-
box
genes
.
Holt-
Oram
syndrome
(
HOS
)
,
the
classic
heart
and
hand
syndrome
,
is
clinically
typified
by
radial
ray
upper
limb
abnormalities
and
cardiac
malformations
,
and
is
caused
by
mutations
involving
TBX
5
.
Another
member
of
the
T
-
box
gene
family
,
TBX
3
,
is
found
in
close
proximity
to
TBX
5
on
chromosome
12
q
24
.
Mutations
in
TBX
3
cause
ulnar-mammary
syndrome
(
UMS
)
,
which
is
distinguished
by
upper
limb
malformations
affecting
the
ulnar
ray
,
apocrine
,
and
mammary
gland
hypoplasia
,
and
genital
defects
.
While
disorders
involving
isolated
mutations
of
TBX
5
and
TBX
3
have
been
well
described
,
contiguous
deletions
of
these
T
-
box
genes
remain
exceptional
.
We
report
on
a
patient
with
features
of
both
HOS
and
UMS
consisting
of
bilateral
symmetric
limb
malformations
,
congenital
cardiac
defects
,
and
rapidly
progressive
cardiac
conduction
disease
.
Diseases
Validation
Diseases presenting
"upper limb malformations"
symptom
holt-oram syndrome
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