Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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An osteosclerotic form of Robinow syndrome.
[oligodontia]
Robinow
syndrome
(
RS
)
is
a
clinically
and
genetically
heterogenous
condition
primarily
characterized
by
short
stature
,
mesomelia
,
genital
hypoplasia
,
oral
abnormalities
,
and
a
facial
gestalt
that
includes
hypertelorism
,
a
short
nose
,
and
a
broad
mouth
.
The
disorder
exists
in
both
a
dominant
and
a
more
severe
recessive
form
.
Here
two
unrelated
cases
of
sporadic
RS
are
described
with
the
additional
finding
of
axial
and
appendicular
osteosclerosis
.
These
two
patients
,
coupled
with
three
additional
patients
previously
described
in
the
literature
,
may
represent
a
distinct
sub-phenotype
of
this
condition
.
Diseases
Validation
Diseases presenting
"short stature"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
cowden syndrome
dentin dysplasia
dentinogenesis imperfecta
fabry disease
hirschsprung disease
holt-oram syndrome
kabuki syndrome
kallmann syndrome
kindler syndrome
monosomy 21
oculocutaneous albinism
oligodontia
omenn syndrome
proteus syndrome
werner syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated