Rare Diseases Symptoms Automatic Extraction
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Child neurology: Zellweger syndrome.
[zellweger syndrome]
Zellweger
syndrome
(
ZS
)
is
a
severe
manifestation
of
disease
within
the
spectrum
of
peroxisome
biogenesis
disorders
that
includes
neonatal
adrenoleukodystrophy
,
infantile
Refsum
disease
,
and
rhizomelic
chondroplasia
punctata
.
Patients
with
ZS
present
in
the
neonatal
period
with
a
characteristic
phenotype
of
distinctive
facial
stigmata
,
pronounced
hypotonia
,
poor
feeding
,
hepatic
dysfunction
,
and
often
seizures
and
boney
abnormalities
.
In
patients
with
ZS
,
a
mutation
in
one
of
the
PEX
genes
coding
for
a
peroxin
(
a
peroxisome
assembly
protein
)
creates
functionally
incompetent
organelles
causing
an
accumulation
of
very
long
chain
fatty
acids
(
VLCFA
)
,
among
other
complications
.
Despite
an
absence
of
treatment
options
,
prompt
diagnosis
of
ZS
is
important
for
providing
appropriate
symptomatic
care
,
definitive
genetic
testing
,
and
counseling
regarding
family
planning
.
Diseases
Validation
Diseases presenting
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated