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NF has been classified into
three distinct types; NF1,
NF2 and Schwannomatosis.
They are caused by different
genes, located on different
chromosomes |
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NF1 is not a rare disorder,
it is the most common
neurological disorder caused
by a single gene |
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NF1 is the more common form
of NF, occurring in 1 in
3,000 to 4,000 people
worldwide (see footnotes 1 &
2 below) |
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NF2 is a rarer type,
occurring in about 1:35-40,000 people
worldwide |
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Although there have been few
large studies, studies indicate
that Schwannomatosis likely occurs
in about 1:40,000 people, similar
to NF2 |
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All forms of NF are
autosomal dominant genetic
disorders which can be
inherited from a parent who
has NF or may be the result
of a new or "spontaneous
mutation" (change) in the
sperm or egg cell |
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Each child of an affected
parent has a 50% chance of
inheriting the gene and
developing NF; the type of
NF inherited by the child is
always the same as that of
the affected parent,
although the severity of the
manifestations may differ
from person to person within
a family |
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NF is worldwide in
distribution and affects
both sexes equally and has
no particular racial,
geographic or ethnic
distribution; therefore, NF
can appear in any family |
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Common features of NF1
include cafe-au-lait spots,
freckling, neurofibromas in
or under the skin and Lisch
nodules on the iris of the
eye. Most cases of NF1
are mild to moderate
although some people with
NF1 can develop
complications like skeletal
abnormalities, plexiform
neurofibromas and optic
gliomas. |
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NF1 also has a connection to
developmental problems,
especially learning
disabilities, which are five
times more common in the NF1
population than in the
general population |
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The distinguishing feature
of NF2 is tumours that grow
on the eighth cranial nerve
in both ears, commonly
causing deafness and severe
balance problems |
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NF2 brings on increased risk
of other types of nervous
system tumours as well |
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NF2 can also cause severe
vision problems, including
cataracts, retinal
abnormalities and orbital
tumours |
Information and content provided
courtesy of
The Children's Tumor
Foundation
Ending Neurofibromatosis Through
Research
www.ctf.org
US based foundation focussing on
research, public education and
patient support.
Largest non-government funding
source of NF research.
Reviewed and edited by Professor
Kathryn North, April 2008
Note 1: Pathophysiology of
Disease, Stephen J. McPhee,
Vishwanash R. Lingappa, Willim F.
Ganong, Jack D. Lang, Prentice Hall,
1995, Note 2: Statistics from
British Colombia Neurofibromatosis
Foundation. For more
information about prevalence and
incidence statistics in general for
Neurofibromatosis, see:
http://www.wrongdiagnosis.com/n/neurofibromatosis/stats-country.htm
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