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Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.
[hirschsprung disease]
Waardenburg
syndrome
is
characterized
by
hearing
loss
,
pigmentation
abnormalities
,
dysmorphologic
features
,
and
neurological
phenotypes
.
Waardenburg
syndrome
consists
of
four
distinct
subtypes
,
and
SOX
10
mutations
have
been
identified
in
type
II
and
type
IV
.
Type
IV
differs
from
type
II
owing
to
the
presence
of
Hirschsprung
disease
.
We
identified
a
de
novo
nonsense
mutation
in
SOX
10
(
p
.
G
39
X
)
in
a
female
pediatric
patient
with
Waardenburg
syndrome
with
heterochromia
iridis
,
profound
bilateral
sensorineural
hearing
loss
,
inner
ear
malformations
,
and
overall
hypopigmentation
of
the
hair
without
dystopia
canthorum
.
This
patient
has
experienced
chronic
constipation
since
she
was
a
neonate
,
but
anorectal
manometry
showed
a
normal
anorectal
reflex
.
Chronic
constipation
in
this
patient
was
likely
to
be
a
consequence
of
a
mild
intestinal
disorder
owing
to
the
SOX
10
mutation
,
and
this
patient
was
considered
to
have
a
clinical
phenotype
intermediate
between
type
II
and
type
IV
of
the
syndrome
.
Chronic
constipation
may
be
recognized
as
indicative
of
a
SOX
10
mutation
in
patients
with
Waardenburg
syndrome
.
Diseases
Validation
Diseases presenting
"sox10 mutation"
symptom
hirschsprung disease
kallmann syndrome
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