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Cohen syndrome in the Ohio Amish.
[cohen syndrome]
We
describe
eight
members
from
two
large
Amish
kindreds
who
share
a
phenotype
characterized
by
early
-onset
pigmentary
retinopathy
and
myopia
,
global
developmental
delay
and
mental
retardation
,
microcephaly
,
short
stature
,
hypotonia
,
joint
hyperextensibility
,
small
hands
and
feet
,
common
facial
appearance
,
and
friendly
disposition
.
Several
of
the
children
had
intermittent
granulocytopenia
.
The
phenotypic
occurrence
in
three
siblings
coupled
with
the
increased
coefficient
of
inbreeding
in
the
Amish
suggested
that
this
disorder
is
autosomal
recessive
and
due
to
a
single
founder
allele
.
Despite
similarity
to
the
clinical
features
of
Cohen
syndrome
,
experienced
dysmorphologists
attending
the
23rd
David
W
.
Smith
Workshop
suggested
the
facial
gestalt
of
the
Amish
children
was
inconsistent
with
this
diagnosis
.
We
mapped
the
locus
responsible
for
these
individuals
'
phenotype
to
chromosome
8
q
22
-
q
23
,
which
contains
the
recently
discovered
Cohen
syndrome
gene
,
COH
1
.
Complete
sequencing
of
the
COH
1
gene
identified
a
likely
disease-causing
frameshift
mutation
and
a
missense
mutation
in
the
Amish
patients
.
A
comparison
of
features
among
different
Cohen
syndrome
populations
with
shared
linkage
to
the
COH
1
locus
or
known
COH
1
gene
mutations
may
allow
for
the
determination
of
improved
clinical
criteria
on
which
to
suspect
the
diagnosis
of
Cohen
syndrome
.
We
conclude
that
facial
gestalt
seems
to
be
an
unreliable
indicator
of
Cohen
syndrome
between
ethnic
populations
,
although
it
is
quite
consistent
among
affected
individuals
within
a
particular
ethnic
group
.
Other
features
common
to
almost
all
individuals
with
proven
COH
1
mutations
,
such
as
retinal
dystrophy
,
myopia
,
microcephaly
,
mental
retardation
,
global
developmental
delay
,
hypotonia
,
and
joint
hyperextensibility
appear
to
be
better
clinical
indicators
of
this
disorder
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated