Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
An insight into the genesis of hypohidrotic ectodermal dysplasia in a case report.
[oligodontia]
Hypohidrotic
(
anhidrotic
)
ectodermal
dysplasia
(
HED
)
is
a
congenital
syndrome
characterized
by
sparse
hair
,
oligodontia
,
and
reduced
sweating
.
It
is
estimated
to
affect
at
least
one
in
17000
people
worldwide
.
We
report
a
rare
case
of
HED
in
a
14
-
year
-old
male
child
patient
which
extraorally
manifested
as
alopecia
,
scanty
eyebrow
and
eye
lashes
,
frontal
bossing
,
depressed
nasal
bridge
,
and
full
and
everted
lips
.
Intraoral
examination
revealed
complete
anodontia
of
the
deciduous
teeth
and
partial
anodontia
of
the
permanent
teeth
.
It
is
usually
inherited
as
an
X-
linked
recessive
trait
caused
by
mutation
in
any
of
the
three
EDA
pathway
genes
.
X-
linked
and
autosomal
recessive
forms
are
phenotypically
similar
;
thus
,
identification
of
carriers
of
partial
forms
of
the
disorder
in
their
families
is
the
key
to
clarifying
intrafamilial
genetic
transmission
.
Diseases
Validation
Diseases presenting
"scanty eyebrow and eye lashes"
symptom
oligodontia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom