Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families.
[triple a syndrome]
Allgrove
syndrome
is
a
rare
autosomal
recessive
condition
characterized
by
adrenal
insufficiency
,
achalasia
,
alacrima
and
occasionally
autonomic
disturbances
.
Mutations
in
the
AAAS
gene
,
on
chromosome
12
q
13
have
been
implicated
as
a
cause
of
this
disorder
.
We
present
various
manifestations
of
this
syndrome
in
two
related
families
each
with
two
affected
siblings
in
which
several
members
had
symptoms
including
reduced
tear
production
,
mild
developmental
delay
,
achalasia
,
neurological
disturbances
and
also
premature
loss
of
permanent
teeth
in
two
of
them
.
The
importance
of
this
report
is
dental
involvement
(
loss
of
permanent
teeth
)
in
Allgrove
syndrome
that
has
not
been
reported
in
literature
.
Diseases
Validation
Diseases presenting
"adrenal insufficiency"
symptom
adrenal incidentaloma
adrenomyeloneuropathy
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
familial hypocalciuric hypercalcemia
neonatal adrenoleukodystrophy
scrub typhus
triple a syndrome
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated