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$Unique_ID{BRK03518}
$Pretitle{}
$Title{Beals Syndrome}
$Subject{Beals Syndrome Arachnodactyly Contractural Beals Type Beals-Hecht
Syndrome CCA Contractural Arachnodactyly Congenital Contractures Multiple with
Arachnodactyly Ear Anomalies-Contractures-Dysplasia of Bone with
Kyphoscoliosis Arthrogryposis Multiplex Congenita Marfan Syndrome Mitral Valve
Prolapse Keratoconus}
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

913:
Beals Syndrome

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

Synonyms

     Arachnodactyly, Contractural Beals Type
     Beals-Hecht Syndrome
     CCA
     Contractural Arachnodactyly, Congenital
     Contractures, Multiple with Arachnodactyly
     Ear Anomalies-Contractures-Dysplasia of Bone with Kyphoscoliosis

Information on the following diseases can be found in the Related
Disorders section of this report:

     Arthrogryposis Multiplex Congenita
     Marfan Syndrome
     Mitral Valve Prolapse
     Keratoconus

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.

Beals Syndrome is a rare genetic connective tissue disorder inherited as
an autosomal dominant trait.  The major features of this disorder are:  long,
thin, spiderlike fingers and toes; congenital contractures of the fingers,
hips, elbows, knees and ankles; and unusual ears that appear crumpled.

Symptoms

Beals Syndrome is a hereditary connective tissue disorder in which the
patients are born with joints that are in a bent position and will not move
(contractures).  Typically, the joints of the fingers, hips, knees, ankles
and elbows are affected.  These contractures tend to improve gradually.
Occasionally the knee and hand contractures persist but physical therapy
tends to improve the condition.

Other typical symptoms of this disorder are a deformity of the ear in
which the ear has a "crumpled" appearance and unusually long and thin fingers
and toes (arachnodactyly).

Other symptoms that may be found in some patients with Beals Syndrome
are:  severe curvature of the spine and a hunched back (kyphoscoliosis) which
may be present during infancy or progress with age; a forward projection of
the sternum (pectus carinatum); sinking of the chest (pectus excavatum); a
cone-like bulge of the cornea of the eye that may result in blurred vision
(keratoconus); a delay in motor development due to the contractures;
nearsightedness (myopia); taller than normal height; and/or a condition in
which one or both of the small flaps of the mitral valve stick out into the
upper chamber of the heart during narrowing of the lower chamber.  This
causes the valve not to close properly and blood to flow back into the upper
chamber of the heart (mitral valve prolapse).  (For more information on these
disorders choose "Mitral Valve Prolapse" and "Keratoconus" as your search
term in the Rare Disease Database).

Causes

Beals Syndrome is inherited as an autosomal dominant trait with variable
expression.  Human traits, including the classic genetic diseases, are the
product of the interaction of two genes, one received from the father and one
from the mother.  In dominant disorders a single copy of the disease gene
(received from either the mother or father) will be expressed "dominating"
the other normal gene and resulting in the appearance of the disease.  The
risk of transmitting the disorder from affected parent to offspring is fifty
percent for each pregnancy regardless of the sex of the resulting child.

Affected Population

Beals Syndrome is a rare genetic disorder that affects males and females in
equal numbers.  There have been approximately twenty affected families as
well as many isolated cases reported in the medical literature.

Related Disorders

Symptoms of the following disorders can be similar to those of Beals
Syndrome.  Comparisons may be useful for a differential diagnosis:

Arthrogryposis Multiplex Congenita is a rare congenital disease
characterized by reduced mobility of multiple joints at birth due to
proliferation of fibrous tissue.  Symptoms of this disorder may be:  a fixed
range of motion of joints; shoulders that are bent inward and internally
rotated; wrists and fingers that are bent and muscles that are
underdeveloped.  (For more information on this disorder, choose
"Arthrogryposis Multiplex Congenita" as your search term in the Rare Disease
Database).

Marfan Syndrome is an inherited disorder of the connective tissue.  It is
characterized by unusually thin, long, limbs, feet and fingers, an unusual
limberness of the joints, a relaxation of the muscles, a progressive
curvature of the spine, a protruding or indented breastbone and flat feet.
Enlargement and degeneration of the aorta, mitral valve prolapse and the
possibility of an aortic aneurysm are serious consequences of Marfan
Syndrome.  (For more information on this disorder, choose "Marfan Syndrome"
as your search term in the Rare Disease Database).

The following disorders may occur in conjunction with Beals Syndrome:

Keratoconus is a slowly progressive enlargement of the curved transparent
outer layer of fibrous tissue covering the eyeball (cornea).  The resulting
conical shape of the cornea causes blurred vision and other vision problems.
Inherited forms of this disorder usually begin after puberty.  Keratoconus
can also occur in conjunction with a variety of other disorders.

Mitral Valve Prolapse Syndrome is a heart disorder.  The exact cause is
unknown.  It can be a symptom of other disorders such as connective tissue
diseases or muscular dystrophy, or it may occur by itself.  Major symptoms
include chest pain and/or palpitations, accompanied by a heart murmur.
Shortness of breath, fatigue, lightheadedness and dizzy spells, in some
cases, progress to an inability to breath except when sitting in an upright
position.  There is a characteristic click heard through a stethoscope upon
physical examination.  Blood may flow back through the heart valve (mitral
regurgitation) causing other complications.

Therapies:  Standard

Patients with Beals Syndrome benefit from physical therapy which can improve
mobility of joints.  When keratoconus is present the condition can usually be
corrected with glasses or contact lenses.

For patients with mitral valve prolapse, surgery is not usually
recommended.  However, in rare cases mitral valve prolapse may be treated by
replacement of the affected valve.  The use of oral contraceptives by women
with mitral valve prolapse is not recommended and antibiotics should be
prescribed before surgical procedures (such as tooth extractions and other
minor or major surgery) as a preventive measure to avoid infection.

Plastic surgery may be performed to correct the ears if needed.

Genetic counseling may be of benefit for patients and their families.

Therapies:  Investigational

Drugs such as beta blockers and moricizene (Ethmozine) may alleviate many of
the heart rhythm abnormalities associated with mitral valve prolapse.  Other
symptoms such as palpitations, dizziness, and fainting spells may also
respond to these drugs.

Research on birth defects and their causes is ongoing.  The National
Institutes of Health (NIH) is sponsoring the Human Genome Project which is
aimed at mapping every gene in the human body and learning why they sometimes
malfunction.  It is hoped that this new knowledge will lead to prevention and
treatment of genetic disorders in the future.

This disease entry is based upon medical information available through
May 1992.  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 Beals Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Coalition of Heritable Disorders of Connective Tissue
     C/O National Marfan Foundation
     382 Main St.
     Port Washington, NY  11050
     [phone]

     National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 225.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  Pp. 424.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 174.