Rare Diseases Symptoms Automatic Extraction
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A review of harlequin ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
is
an
extremely
rare
and
historically
lethal
congenital
disorder
of
the
skin
caused
by
abnormal
keratinization
.
This
article
reviews
the
embryology
and
currently
understood
pathophysiology
of
the
disease
,
as
well
as
current
methods
used
to
diagnose
and
treat
these
infants
.
There
are
serious
implications
for
the
family
to
consider
:
the
high
risk
that
their
newborn
will
die
soon
,
as
well
as
future
family
planning
issues
.
Diseases
Validation
Diseases presenting
"high risk"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
aniridia
canavan disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
legionellosis
liposarcoma
locked-in syndrome
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
werner syndrome
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