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An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.
[zellweger syndrome]
Zellweger
syndrome
is
a
peroxisomal
disorder
resulting
from
the
mutations
in
PEX
genes
generally
presenting
in
the
neonatal
period
with
profound
hypotonia
seizures
,
inability
to
feed
,
liver
cysts
with
hepatic
dysfunction
,
chondrodysplasia
punctata
.
Kabuki
make-up
syndrome
is
a
multiple
congenital
anomalies
and
mental
retardation
syndrome
with
characteristic
facial
appearance
,
skeletal
abnormalities
,
dermatoglyphic
abnormalities
,
mental
retardation
and
short
stature
.
Abnormal
liver
functions
and
some
atypical
findings
were
also
reported
in
some
patients
with
Kabuki
syndrome
.
In
this
report
a
case
with
late
onset
Zellweger
syndrome
who
had
some
phenotypical
findings
which
are
also
seen
in
Kabuki
Syndrome
will
be
presented
.
The
inclusion
of
Zellweger
syndrome
into
the
differential
diagnosis
of
the
patients
with
Kabuki-like
phenotype
in
addition
to
abnormal
liver
functions
is
emphasized
.
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