Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Mirror-image asymmetry in monozygotic twins with kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
OMIM
147920
)
is
a
rare
disorder
characterised
by
moderate
intellectual
disability
,
growth
retardation
,
microcephaly
and
characteristic
facial
dysmorphic
features
which
comprise
long
palpebral
fissures
,
eversion
of
the
lateral
third
of
the
eyelids
and
arched
eyebrows
with
lateral
sparseness
.
Mutations
in
MLL
2
are
the
most
frequent
cause
of
this
disorder
.
More
than
100
MLL
2
point
mutations
have
been
reported
,
but
large
intragenic
deletions
comprising
one
or
more
exons
have
not
yet
been
identified
.
We
report
on
a
pair
of
monozygotic
twin
brothers
in
whom
a
deletion
of
2
neighbouring
exons
was
detected
.
The
twins
had
the
characteristic
facial
features
of
Kabuki
syndrome
,
and
they
suffered
from
microcephaly
,
cleft
lip
and
palate
and
congenital
heart
disease
.
Cleft
lip
and
palate
were
left-sided
in
the
first
twin
and
right
-sided
in
the
second
twin
,
i
.
e
.
they
represented
a
mirror
-image
asymmetry
.
The
intragenic
deletion
in
these
brothers
broadens
the
spectrum
of
MLL
2
mutations
,
and
they
provide
a
rare
example
of
mirror
-image
asymmetry
of
congenital
malformations
in
monozygotic
twins
.
Diseases
Validation
Diseases presenting
"intellectual disability"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aniridia
child syndrome
cohen syndrome
cowden syndrome
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
monosomy 21
oculocutaneous albinism
oligodontia
phenylketonuria
proteus syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated