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CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.
[child syndrome]
CHILD
syndrome
,
a
rare
hereditary
disorder
of
keratinization
(
MIM
308050
,
300275
)
,
is
the
acronym
proposed
by
Happle
to
name
a
rare
entity
,
characterized
by
congenital
hemidysplasia
,
icthyosiform
nevus
and
limb
defects
,
ranging
from
digital
hypoplasia
to
icthyosiform
nevus
and
ipsilateral
limb
defects
,
ranging
from
digital
hypoplasia
to
complete
amelia
.
A
9
-
month
-old
female
infant
presented
with
skin
and
limb
defects
involving
the
right
side
of
her
body
.
Clinical
and
laboratory
evaluation
was
performed
,
including
DNA
sequence
analysis
of
the
NSDHL
gene
.
Our
patient
presented
with
some
of
the
typical
clinical
characteristics
of
CHILD
syndrome
,
i
.
e
.
two
large
erythematous
plaques
with
sharp
borders
,
covered
with
yellow
,
wax-like
scaling
,
on
the
right
axilla
and
on
the
right
groin
,
dysplastic
right
hand
and
alopecia
of
the
right
occipital
area
.
The
diagnosis
was
confirmed
by
DNA
screening
analysis
,
that
detected
a
missense
mutation
c
.
314
C--
>
T
;
p
-
A
105
V
,
in
the
coding
region
of
the
NSDHL
gene
(
exon
4
)
of
our
patient
.
This
is
the
first
report
of
CHILD
syndrome
ever
reported
in
Greece
.
We
suggest
that
the
diagnosis
of
the
syndrome
is
important
for
patient
information
and
genetic
counselling
.
Diseases
Validation
Diseases presenting
"limb defects"
symptom
child syndrome
holt-oram syndrome
kallmann syndrome
proteus syndrome
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