Bloom Syndrome
by Yael Rosenberg, RN

   •  Description
   •  Symptoms
   •  Incidence and Carriers
   •  Treatment
   •  Testing
   •  Resources and More
   •  Support Groups

Description
Bloom's Syndrome is an autosomal recessive genetic disease, which means that both parents must be carriers of the gene and pass it to the next generation. 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.

Symptoms
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

Incidence and Carriers
Disease Frequency: Unknown

Carrier Frequency: 1 in 110 Ashkenazi Jews
Males with Bloom's Syndrome are usually infertile, and some women with Bloom’s Syndrome have fertility problems.

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.

Testing
Diagnosis: by clinical features and confirmed by chromosome analysis.

Carrier-Screening: This test 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-Screening: This can be attained with the use of CVS (chorionic villus sampling) or amniocentesis, which are performed early in the pregnancy.

Resources and More
• Mount Sinai School of Medicine Diagnostic Testing Laboratory
  Tel: 212-241-6947
• Genzyme Genetics Molecular Diagnostic Laboratory
  Tel: (800) 255-7357
• LabCorp Molecular Biology
  Tel: (800) 345-4363
• Quest Diagnostics, Inc. Molecular Genetics Laboratory
  Tel: (800) 642-4657
• The Victor Outreach and Screening Program for Ashkenazi Jewish Genetic Diseases of • Tufts Medical Center

James L. German III, MD 
The New York Blood Center 
Laboratory of Molecular Genetics 
310 East 67th Street 
New York, NY 10021 
(212) 570-3075 (voice) 

For Genetic Counseling and Screening Resources – Click Here

Support Groups
The Milo Gladstein Foundation for Bloom's Syndrome 
7095 Hollywood Blvd #583  
Los Angeles CA 90028  
Email: info@milogladsteinfoundation.org  
http://www.milogladsteinfoundation.org

Chicago Center for Jewish Genetic Disorders 
Ben Gurion Way  
One South Franklin Street Fourth Floor  
Chicago IL 60606  
Phone: 312-357-4718  
Fax: 312-855-3295  
Email: jewishgeneticsctr@juf.org  
http://www.jewishgeneticscenter.org

Xeroderma Pigmentosum Society, Inc (XP Society) 
XP Society has material on their site related to UV protection/avoidance. 
437 Syndertown Road  
Craryville NY 12521  
Phone: 877-XPS-CURE (877-977-2873); 518-851-2612  
Email: Email: xps@xps.org  
http://www.xps.org

Bloom's Syndrome Registry 
Cornell University Medical College  
1300 York Avenue  
New York NY 10021  
Phone: 212-746-3956; 516 678-5000x6217  
Email: jlg2003@mail.med.cornell.edu; msanz@molloy.edu