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An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.
[kabuki 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
"short stature"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
cowden syndrome
dentin dysplasia
dentinogenesis imperfecta
fabry disease
hirschsprung disease
holt-oram syndrome
kabuki syndrome
kallmann syndrome
kindler syndrome
monosomy 21
oculocutaneous albinism
oligodontia
omenn syndrome
proteus syndrome
werner syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated