Sprengel Deformity is a rare congenital disorder in which the shoulder blade is displaced upward. 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.
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).
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 50 percent for each pregnancy regardless of the sex of the resulting child.
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.
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.
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.
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Thoene JG., ed. Physicians’ Guide to Rare Diseases. Montvale, NJ: Dowden Publishing Company Inc; 1995:141-42
Buyce ML., ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:1593-94.
Bellemans M, et al., Results of surgical treatment of Sprengel deformity by a modified Green’s procedure. J Pediatr Orthop B. 1999;8:194-96.
Borges JL, et al., Modified Woodward procedure for Sprengel deformity of the shoulder: long-term results. J Pediatr Orthop. 1996;16:508-13.
Leibovic SJ, et al., Sprengel deformity. J Bone Joint Surg Am. 1990;72:192-97.
FROM THE INTERNET
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 184400; Last Update: 6/2/1986.
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