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Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.
[neuralgic amyotrophy]
We
report
a
family
in
which
two
siblings
presented
with
an
apparent
dysmorphic
syndrome
,
including
hypotelorism
,
blepharophimosis
,
slight
ptosis
,
epicanthal
folds
,
microstomia
and
dysmorphic
ears
.
One
sibling
had
a
cleft
palate
.
Initially
,
blepharophimosis
,
ptosis
,
and
epicanthus
inversus
syndrome
(
BPES
)
was
suspected
;
however
,
mutation
of
the
FOXL
2
gene
was
not
detected
.
Moreover
,
the
patients
'
father
and
paternal
grandmother
had
experienced
recurrent
episodes
of
unilateral
brachial
neuritis
and
were
diagnosed
to
have
hereditary
neuralgic
amyotrophy
(
HNA
)
.
HNA
is
a
rare
,
inherited
form
of
brachial
neuritis
whose
phenotypic
spectrum
may
include
hypotelorism
,
cleft
palate
and
other
minor
dysmorphisms
.
HNA
maps
to
chromosome
17
q
25
and
is
associated
with
mutations
in
the
SEPT
9
gene
.
After
confirming
a
heterozygous
SEPT
9
mutation
(
R
88
W
)
in
the
father
and
his
mother
,
it
became
apparent
that
the
dysmorphic
features
in
the
children
were
part
of
HNA
and
that
previous
complaints
of
the
daughter
,
erroneously
diagnosed
as
pronatio
dolorosa
and
then
epiphysiolysis
of
the
capitellum
humeri
,
were
in
fact
a
first
neuralgic
pain
attack
.
Both
children
were
shown
to
have
inherited
the
paternal
SEPT
9
mutation
.
Wider
recognition
of
HNA
as
a
syndromic
disorder
may
facilitate
its
diagnosis
in
affected
young
persons
who
may
not
yet
have
manifested
episodes
of
brachial
neuritis
.
Diseases
Validation
Diseases presenting
"cleft palate"
symptom
22q11.2 deletion syndrome
aniridia
congenital diaphragmatic hernia
cystinuria
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
oligodontia
phenylketonuria
This symptom has already been validated