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The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genes.
[oligodontia]
Fibroblast
growth
factors
consist
of
receptor
tyrosine
kinase
binding
proteins
involved
in
growth
,
differentiation
,
and
regeneration
of
a
variety
of
tissues
of
the
head
and
neck
.
Their
role
in
the
development
of
teeth
has
been
documented
,
and
their
presence
in
human
odontogenic
cysts
and
tumors
has
previously
been
investigated
.
Odontoma
–
dysphagia
syndrome
(
OMIM
164330
)
is
a
very
rare
disorder
characterized
by
clustering
of
teeth
as
compound
odontoma
,
dysplasia
and
aplasia
of
teeth
,
slight
craniofacial
abnormalities
,
and
dysphagia
.
We
have
followed
the
clinical
course
of
the
disease
in
a
family
over
more
than
30
years
and
have
identified
a
genetic
abnormality
segregating
with
the
disorder
.
We
evaluated
clinical
data
from
nine
different
family
members
and
obtained
venous
blood
probes
for
genetic
studies
from
three
family
members
(
two
affected
and
one
unaffected
)
.
The
present
family
with
five
patients
in
two
generations
has
remained
one
out
of
only
two
known
cases
with
this
very
rare
syndrome
.
All
those
affected
showed
teeth
dysplasia
,
oligodontia
,
and
dysplasia
and
odontoma
of
the
upper
and
lower
jaw
.
Additional
signs
included
dysphagia
and
strictures
of
the
oesophagus
.
Comorbidity
in
one
patient
included
aortic
stenosis
and
coronary
artery
disease
,
requiring
coronary
bypasses
and
aortic
valve
replacement
.
Genome-
wide
SNP
array
analyses
in
three
family
members
(
two
affected
and
one
unaffected
)
revealed
a
microduplication
of
chromosome
11
q
13
.
3
spanning
355
kilobases
(
kb
)
and
including
two
genes
in
full
length
,
fibroblast
growth
factors
3
(
FGF
3
)
and
4
(
FGF
4
)
.
The
microduplication
identified
in
this
family
represents
the
most
likely
cause
of
the
odontoma
–
dysphagia
syndrome
and
implies
that
the
syndrome
is
caused
by
a
gain
of
function
of
the
FGF
3
and
FGF
4
genes
.
Mutations
of
FGF
receptor
genes
can
cause
craniofacial
syndromes
such
as
odontoma
–
dysphagia
syndrome
.
Following
this
train
of
thought
,
an
evaluation
of
FGF
gene
family
in
sporadic
odontoma
could
be
worthwhile
.
Diseases
Validation
Diseases presenting
"craniofacial abnormalities"
symptom
kallmann syndrome
oligodontia
proteus syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated