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Cartilage Hair Hypoplasia: First report from Iran.
[hirschsprung disease]
Cartilage
hair
hypoplasia
(
CHH
)
,
is
a
rare
cause
of
metaphyseal
chondrodysplasia
and
short
stature
.
Other
featuresincluded
hair
abnormality
,
immunodeficiency
,
anemia
,
gastrointestinal
disorders
(
Hirschsprung
disease
,
celiac
,
…
)
and
increased
risk
of
cancer
.
The
disease
is
an
autosomal
recessive
disorder
and
previously
has
notbeen
reported
in
Iran
.
We
report
a
9
-
year
-old
boy
diagnosed
as
cartilage
hair
hypoplasia
,
with
severe
short
stature
,
metaphyseal
chondrodysplasia
,
hair
hypoplasia
,
Hirschsprung
disease
,
hypothyroidism
,
vesicouretral
refluxand
renal
stone
.
Renal
stone
and
hypothyroidism
have
been
reported
in
cartilage
hair
hypoplasia
with
lower
frequencies
.
This
is
the
first
report
of
cartilage
hair
hypoplasia
in
Iran
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated