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Optic nerve findings in CHILD syndrome.
[child syndrome]
Congenital
hemidysplasia
with
ichthyosiform
erythroderma
and
limb
defects
(
CHILD
)
syndrome
is
a
rare
disorder
characterized
by
birth
defects
of
several
organ
systems
,
including
the
skin
,
viscera
,
musculoskeletal
system
,
and
central
nervous
system
.
The
authors
present
the
first
report
of
CHILD
syndrome
with
ocular
manifestations
in
a
patient
with
progressive
bilateral
optic
nerve
atrophy
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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