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The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.
[kabuki syndrome]
Niikawa-
Kuroki
syndrome
(
Kabuki
syndrome
)
is
a
multiple
congenital
anomaly
syndrome
of
unknown
etiology
with
a
very
wide
spectrum
of
abnormalities
and
severity
.
The
aim
of
this
paper
was
to
report
the
first
case
of
the
syndrome
in
Kazakhstan
associated
café
au
lait
.
Five
year
and
half
old
boy
from
Kazakhstan
(
Uzbek
-of
Turk
ethnicity
)
presented
with
dysmorphic
facial
features
(
long
palpebral
fissures
,
a
broad
and
depressed
nasal
tip
,
large
prominent
earlobes
,
small
head
,
epicanthic
folds
short
stature
,
delayed
language
development
,
hypotonia
,
bilateral
developmental
dysplasia
of
the
hip
(
DDH
)
,
large
ears
and
triangular
chin
,
café
au
lait
spots
.
The
clinical
diagnosis
was
based
on
the
triad
of
characteristic
facial
abnormalities
(
long
palpebral
fissures
,
a
broad
and
depressed
nasal
tip
,
large
prominent
earlobes
,
small
head
)
,
growth
retardation
,
(
DDH
)
.
In
this
paper
the
authors
report
the
first
case
of
Kabuki
syndrome
associated
with
café
au
lait
spots
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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