Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom