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Neurologic manifestations of achondroplasia.
[achondroplasia]
Achondroplasia
is
the
best
described
and
most
common
form
of
the
congenital
short
-limbed
dwarfing
conditions
.
Achondroplasia
is
apparent
at
birth
and
has
a
birth
prevalence
of
1
in
2000
0
-
30000
live-born
infants
.
Achondroplasia
is
inherited
as
an
autosomal
dominant
condition
,
although
80
%
of
cases
occur
sporadically
as
new
events
in
their
families
.
Achondroplasia
is
caused
,
in
virtually
all
of
the
cases
,
by
a
G
380
R
mutation
in
fibroblast
growth
factor
receptor
3
(
FGFR
3
)
.
Patients
with
achondroplasia
should
be
evaluated
by
a
multidisciplinary
team
of
clinicians
including
geneticists
,
neurologists
,
and
orthopedists
,
since
there
are
numerous
bony
and
neurological
complications
.
The
most
severe
complication
results
from
craniocervical
stenosis
and
medullary
and
upper
spinal
cord
compression
,
which
can
have
devastating
and
even
lethal
sequelae
during
early
childhood
.
In
subsequent
decades
,
including
adolescence
,
spinal
cord
and
nerve
compression
are
more
prominent
.
The
neurological
complications
of
achondroplasia
have
been
recognized
in
adults
for
more
than
a
century
and
are
attributed
to
bony
defects
,
connective
tissue
structures
,
or
both
.
Similar
neurological
complications
are
now
appreciated
in
infants
,
young
children
,
and
teenagers
with
achondroplasia
.
Defective
connective
tissue
elements
in
achondroplasia
frequently
lead
to
ligamentous
laxity
,
which
can
aggravate
the
complications
associated
with
bony
stenosis
.
Bony
abnormalities
are
known
to
cause
neurological
morbidity
and
lead
to
a
shortened
lifespan
.
Neurological
complications
associated
with
achondroplasia
are
reviewed
,
including
recommendations
for
the
evaluation
and
management
of
these
clinical
problems
.
Diseases
Validation
Diseases presenting
"which can have devastating and even lethal sequelae during early childhood"
symptom
achondroplasia
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