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Cohen syndrome - a rare genetic cause of hypotonia in children.
[cohen syndrome]
Cohen
syndrome
is
a
rare
,
genetic
condition
,
recessively
inherited
,
associated
with
specific
facial
dysmorphism
,
global
developmental
delay
,
hypotonia
and
ophthalmic
abnormalities
.
A
delay
in
making
the
diagnosis
commonly
occurs
,
because
of
the
lack
of
a
definitive
molecular
test
and
also
because
of
the
clinical
variability
of
the
syndrome
.
In
this
paper
we
describe
four
cases
of
Cohen
syndrome
,
together
with
a
comparison
with
other
cases
reported
in
the
literature
,
in
order
to
further
delineate
this
condition
.
Diseases
Validation
Diseases presenting
"facial dysmorphism"
symptom
cohen syndrome
congenital diaphragmatic hernia
cystinuria
gm1 gangliosidosis
holt-oram syndrome
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
monosomy 21
wolf-hirschhorn syndrome
This symptom has already been validated
