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Cleft hand in Kabuki make-up syndrome: case report.
[kabuki syndrome]
Kabuki
make-up
syndrome
(
KMS
)
is
a
multiple
malformation
/
mental
retardation
syndrome
that
was
first
described
in
Japan
but
is
now
reported
in
many
other
ethnic
groups
.
Kabuki
make-up
syndrome
is
characterized
by
multiple
congenital
abnormalities
:
craniofacial
,
skeletal
,
and
dermatoglyphic
abnormalities
;
mental
retardation
;
and
short
stature
.
Common
hand
anomalies
associated
with
KMS
include
persistent
fingertip
pad
,
brachydactyly
,
clinodactyly
,
and
lax
joints
.
We
report
a
patient
with
KMS
who
presented
with
cleft
hand
,
a
feature
that
has
not
yet
been
described
in
KMS
,
and
describe
the
potential
genetic
cause
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated