Bloom's Syndrome
Bloom's Syndrome is an inherited condition,
which means that it is passed from parents to children. Bloom’s is caused
by a gene that does not function properly. Individuals with Bloom's Syndrome
have an unusually high number of breaks along their chromosomes. (A chromosome
is the structure in our body that contain DNA-genetic material.)
· Bloom’s
Syndrome Physical Characteristics
· Treatment
· Incidence
Among People of Jewish Heritage
· Screening
and Other Resources
Affected Individuals, who
have Bloom's Syndrome, typically have the following physical characteristics:
· Short stature
· A narrow face with prominent
nose
· Skin color changes in the
face. Change more noticeable after sunlight exposure
· Butterfly-shaped facial rash,
similar to rash caused by Lupus Erythematosis
· A high pitched voice
· An increased susceptibility
to infections and respiratory illness
· An increased susceptibility
to cancer and leukemia
· Some may also have mental
retardation
Treatment
There is no treatment for the underlying cause of Bloom’s syndrome, and
therefore medical intervention is primarily preventative. Adults with
Bloom’s syndrome should be more attentive and cautious than others in
their surveillance for cancer. It is recommended that people afflicted
by this disease maintain close contact with a physician familiar with
Bloom’s. This way, with the doctor’s assistance, pay attention to in case
of an emergence of symptoms that may signal or indicate a treatable pre-cancerous
condition.
Incidence
Among People of Jewish Heritage
Though Bloom's Syndrome may occur in any nationality, it is most common
in Jews of Eastern European descent (Ashkenazi Jews). At least one
in one hundred Ashkenazi Jews is a carrier of Bloom's Syndrome.
Carriers do not have Bloom's Syndrome but are capable of passing it to
their children if the other parent is also a carrier. Therefore two carriers
have a 25% chance of having a child with Bloom Syndrome and 50% chance
of having one that is a carrier of the syndrome.
Males with Bloom's Syndrome are usually infertile, and some women with
Bloom’s Syndrome have fertility problems.
Screening
and Other Resources
A carrier-screening requires a sample of blood. The tests can determine
whether or not a gene change is present in the gene for Bloom's Syndrome.
It is possible to detect the specific gene change that is seen in Ashkenazi
Jews with Bloom Syndrome. The test
is not as accurate for individuals who are from other ethnic background.
Prenatal diagnosis for Bloom's Syndrome can be attained with the use of
CVS (chorionic villus sampling) or amniocentesis, which are performed
early in the pregnancy.
For
Genetic Counseling and Screening Resources – Click Here
Important Contact
Information
Bloom’s Syndrome Registry
James L. German III, MD
Professor, Departments of Pediatrics and Microbiology
Cornell University Medical College
1300 York Avenue
New York, NY 10021
Telephone: (212) 746-3956