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Type 1 collagenopathy presenting with a Russell-Silver phenotype.
[dentinogenesis imperfecta]
Osteogenesis
imperfecta
(
OI
)
is
a
heterogeneous
group
of
inherited
disorders
of
bone
formation
,
resulting
in
low
bone
mass
and
an
increased
propensity
to
fracture
.
It
exhibits
a
broad
spectrum
of
clinical
severity
,
ranging
from
multiple
fractures
in
utero
and
perinatal
death
,
to
normal
adult
stature
and
low
fracture
incidence
.
Extra
-
skeletal
features
of
OI
include
blue
sclera
,
hearing
loss
,
skin
hyperlaxity
,
joint
hyperextensibility
,
and
dentinogenesis
imperfecta
.
The
pro
α
1
(
I
)
and
proα
2
(
I
)
chains
of
collagen
1
are
encoded
by
the
COL
1
A
1
and
COL
1
A
2
genes
,
respectively
;
quantitative
or
qualitative
defects
in
type
I
collagen
synthesis
usually
manifest
as
types
of
OI
or
some
sub-types
of
EDS
.
The
majority
of
patients
(
about
90
%
)
with
a
clinical
diagnosis
of
OI
have
a
mutation
in
the
COL
1
A
1
or
COL
1
A
2
genes
,
which
shows
an
autosomal
dominant
pattern
of
inheritance
.
Six
other
genes
,
CRTAP
,
LEPRE
1
,
FKBP
10
,
PP
1
B
,
SP
7
/
Osterix
(
OSX
)
,
and
SERPINH
1
,
are
associated
with
autosomal
recessive
forms
of
OI
.
However
,
other
,
rare
phenotypes
have
also
been
described
.
There
are
many
differential
diagnoses
of
the
short
,
syndromic
child
,
including
chromosomal
,
single
gene
,
and
multifactorial
causes
.
However
,
one
condition
of
particular
relevance
in
the
context
of
this
report
is
the
Russell
-
Silver
syndrome
(
RSS
)
.
As
originally
described
,
the
RSS
is
a
very
specific
condition
.
However
,
it
has
subsequently
become
an
umbrella
term
for
a
heterogeneous
group
of
conditions
presenting
with
short
stature
and
triangular
shape
to
the
face
.
A
significant
proportion
of
these
are
now
believed
to
be
due
to
imprinting
defects
at
11
p
15
.
However
,
the
cause
in
many
cases
remains
unknown
.
We
describe
two
cases
with
a
phenotypic
overlap
between
OI
and
RSS
who
both
have
COL
1
A
1
mutations
.
Thus
,
a
type
1
collagenopathy
should
be
considered
in
the
differential
diagnosis
of
syndromic
short
stature
.
Diseases
Validation
Diseases presenting
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated