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Hamartomatous polyposis syndromes: a review.
[proteus syndrome]
Hamartomatous
Polyposis
Syndromes
(
HPS
)
are
genetic
syndromes
,
which
include
Peutz-
Jeghers
syndrome
,
Juvenile
polyposis
syndrome
,
PTEN
hamartoma
tumour
syndrome
(
Cowden
Syndrom
,
Bannayan-
Riley
-
Ruvalcaba
and
Proteus
Syndrome
)
as
well
as
hereditary
mixed
polyposis
syndrome
.
Other
syndromes
such
as
Gorlin
Syndrome
and
multiple
endocrine
neoplasia
syndrome
2
B
are
sometimes
referred
to
as
HPS
.
HPS
is
characterized
by
the
development
of
hamartomatous
polyps
in
the
gastrointestinal
tract
as
well
as
several
extra
-
intestinal
findings
such
as
dermatological
and
dysmorphic
features
or
extra
-
intestinal
cancer
.
The
syndromes
are
rare
and
inherited
in
an
autosomal
dominant
manner
.
The
diagnosis
of
HPS
has
traditionally
been
based
on
clinical
criteria
,
but
can
sometimes
be
difficult
as
the
severity
of
symptoms
range
considerably
from
only
a
few
symptoms
to
very
severe
cases
-
even
within
the
same
family
.
De
novo
cases
are
also
frequent
.
However
,
because
of
the
discovery
of
several
associated
germline-
mutations
as
well
as
the
rapid
development
in
genetics
it
is
now
possible
to
use
genetic
testing
more
often
in
the
diagnostic
process
.
Management
of
the
syndromes
is
different
for
each
syndrome
as
extra
-
intestinal
symptoms
and
types
of
cancers
differs
.
Clinical
awareness
and
early
diagnosis
of
HPS
is
important
,
as
affected
patients
and
at
-risk
family
members
should
be
offered
genetic
counselling
and
surveillance
.
Surveillance
in
children
with
HPS
might
prevent
or
detect
intestinal
or
extra
-
intestinal
complications
,
whereas
in
adulthood
surveillance
is
recommended
due
to
an
increased
risk
of
cancer
e
.
g
.
intestinal
cancer
or
breast
cancer
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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