Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Prader-Willi and other syndromes associated with obesity and mental retardation.
[cohen syndrome]
Constitutional
obesity
and
mental
retardation
cooccur
in
several
multiple
congenital
anomaly
syndromes
,
including
Prader-
Willi
syndrome
,
Bardet-
Biedl
syndrome
,
Cohen
syndrome
,
Albright
hereditary
osteodystrophy
,
and
Borjeson-
Forssman-
Lehmann
syndrome
as
well
as
some
rarer
disorders
.
Although
hypothalamic
-
pituitary
axis
abnormalities
are
thought
to
be
a
possible
causative
mechanism
in
some
of
these
disorders
,
current
knowledge
is
insufficient
to
explain
the
pathophysiologic
mechanism
of
obesity
in
most
multiple
congenital
anomaly
/
mental
retardation
syndromes
.
The
chromosomal
location
of
many
of
these
syndromes
is
known
,
and
studies
are
ongoing
to
identify
the
causative
genes
.
Further
delineation
of
the
functions
of
the
underlying
genes
will
likely
be
instructive
regarding
mechanisms
of
appetite
,
satiety
,
and
obesity
in
the
general
population
.
This
review
details
current
knowledge
of
the
clinical
and
molecular
genetic
findings
of
multiple
congenital
anomaly
/
mental
retardation
syndromes
associated
with
intrinsic
obesity
in
an
effort
to
delineate
causative
mechanisms
and
genetic
abnormalities
contributing
to
obesity
.