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1994-01-17
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$Unique_ID{BRK04233}
$Pretitle{}
$Title{Sprengel Deformity}
$Subject{Sprengel Deformity High Scapula Scapula Elevata Klippel-Feil Anomaly
}
$Volume{}
$Log{}
Copyright (C) 1993 National Organization for Rare Disorders, Inc.
942:
Sprengel Deformity
** IMPORTANT **
It is possible that the main title of the article (Sprengel Deformity) is
not the name you expected. Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.
Synonyms
High Scapula
Scapula Elevata
Information on the following diseases can be found in the Related
Disorders section of this report:
Klippel-Feil Anomaly
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.
Sprengel Deformity is a rare congenital disorder in which the shoulder
blade has an upward displacement. The elevated shoulder blade causes a lump
in the back of the base of the neck and may limit movement of the arm on the
affected side. This disorder typically appears at birth for no apparent
reason although there have been cases in which the disorder was inherited as
an autosomal dominant trait. Other skeletal and muscular abnormalities have
been found in association with Sprengel Deformity.
Symptoms
Patients with Sprengel Deformity are born with an elevated shoulder blade
that may be underdeveloped. This upward displacement of the shoulder blade
causes a lump in the back at the base of the neck and may limit movement of
the arm.
Some patients with Sprengel Deformity may have bone, cartilage or fiber-
like tissue between the shoulder blade and vertebrae next to it.
Abnormalities of the skeleton and underdeveloped muscles may also be found in
over half of the patients.
The following symptoms have been found in association with Sprengel
Deformity in some patients: sideways curvature of the spine (scoliosis); an
underdeveloped backbone (hemivertebrae); missing or fused ribs; ribs in the
neck; abnormalities of the collarbone; underdeveloped or incomplete muscles
of the shoulder girdle; abnormalities of the chest; organs of the body
displaced on the opposite side (ex: liver on the left and heart on the
right; a gap in the vertebrae column of the lower back (spina bifida
occulta); and/or a condition in which there is a hole in the middle of the
roof of the mouth (cleft palate).
Causes
The majority of cases of Sprengel Deformity occur for no apparent reason
(sporadically). Autosomal dominant inheritance has been reported in some
families.
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
Sprengel Deformity is a very rare disorder that affects males and females
equally in autosomal dominant cases, and females twice as often as males in
sporadic cases. Approximately twenty families have been reported in the
medical literature with the inherited form of Sprengel Deformity.
Related Disorders
Symptoms of the following disorders can be similar to those of Sprengel
Deformity. Comparisons may be useful for a differential diagnosis:
Klippel-Feil Syndrome is a rare congenital disorder of the spine. Three
types of Klippel-Feil Syndrome have been identified. Symptoms common to all
three types include fusion of neck vertebrae, curvature of the spine, and a
low hairline. (For more information on this disorder, choose "Klippel-Feil
Syndrome" as your search term in the Rare Disease Database).
Therapies: Standard
Surgery may be performed in severe cases of Sprengel Deformity to improve
mobility and cosmetic appearance.
Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.
Therapies: Investigational
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 1993. 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 Sprengel Deformity, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
International Center for Skeletal Dysplasia
St. Joseph Hospital
7620 York Road
Towson, MD 21204
(301) 337-1250
For Genetic Information and Genetic Counseling Referrals:
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
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns
Hopkins University Press, 1990. Pp. 878.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 1593-94.
SPRENGEL DEFORMITY: S.J. Leibovic, et al.; J Bone Joint Surg (February,
1990, issue 72(2)). Pp. 192-7.