$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.