$Unique_ID{BRK03531}
$Pretitle{}
$Title{Bloom Syndrome}
$Subject{Bloom Syndrome Facial Telangiectasis of Dwarfs Levi's Type Dwarfism
Bloom-Torre-Mackacek Syndrome}
$Volume{}
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Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders,
Inc.

165:
Bloom Syndrome

** IMPORTANT **
It is possible that the main title of the article (Bloom Syndrome) is not
the name you expected.  Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Facial Telangiectasis of Dwarfs
     Levi's Type Dwarfism
     Bloom-Torre-Mackacek Syndrome

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Bloom Syndrome is a hereditary form of dwarfism accompanied by
abnormalities of the facial skin, unusual sensitivity to sunlight, poor
resistance to infections, and, later in life, susceptibility to cancers.  It
affects primarily males of Eastern European Jewish descent.  Except for the
susceptibility to infections and cancer, Bloom Syndrome patients have
generally good health, especially during infancy and childhood.

Symptoms

Infants with Bloom Syndrome are small at birth and fail to grow to normal
size even though body proportions remain essentially normal throughout
development.  The skin is highly sensitive to sunlight, especially on the
face.  A reddish rash due to the dilatation of many tiny capillaries beneath
the surface of the skin (telangiectasis) covers the face.  There may be
darker or lighter patches of skin on the body.

Affected individuals may also have immunological abnormalities which
render them unusually susceptible to infections of various kinds.  In
addition, many patients eventually develop cancer.  The observation that the
chromosomes of Bloom Syndrome patients are remarkably fragile may relate to
this.

Patients often have a small, narrow face.  Occasionally, there are
abnormalities of the eyes, ears, hands or feet.

Causes

Bloom Syndrome is inherited through an autosomal recessive mechanism.  (Human
traits including the classic genetic diseases, are the product of the
interaction of two genes for that condition, one received from the father and
one from the mother.  In recessive disorders, the condition does not appear
unless a person inherits the same defective gene from each parent.  If one
receives one normal gene and one gene for the disease, the person will be a
carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent and will be genetically normal.)

Affected Population

Bloom Syndrome affects persons of Ashkenazic Jewish ancestry most often.

Males seem to be affected more often than females.

Therapies:  Standard

Therapy for persons with Bloom Syndrome is symptomatic, e.g., sunscreen,
antibiotics and cancer therapy when necessary.

Therapies:  Investigational

This disease entry is based upon medical information available through
January 1990.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Bloom Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     NIH/National Institute of Child Health and Human Development
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-5133

     Bloom Syndrome Registry
     Laboratory of Human Genetics
     The New York Blood Center
     310 E. 67th Street
     New York, NY  10021
     (212) 570-3075

     The Magic Foundation
     1327 N. Harlem Ave.
     Oak Park, IL  60302
     (708) 383-0808

     Human Growth Foundation (HGF)
     7777 Leesburg Pike
     P.O. Box 3090
     Falls Church, VA  22043
     (703) 883-1773
     (800) 451-6434

     National Foundation for Jewish Genetic Diseases
     250 Park Avenue
     New York, NY 10177
     (212) 682-5550

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

CECIL TEXTBOOK OF MEDICINE, 18th ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.:  W. B. Saunders Co., 1988.  Pp. 168, 1113, 1001, 1096.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.
Jones, M.D., W.B. Saunders, Co. 1988.  Pp. 94-5.