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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
"nevus"
symptom
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
kabuki syndrome
lamellar ichthyosis
liposarcoma
malignant atrophic papulosis
oculocutaneous albinism
proteus syndrome
sneddon syndrome
This symptom has already been validated