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Diseases

Genetic and Rare Diseases Information Center (GARD)

Sprengel deformity


Other Names for this Disease
  • Congenital upward displacement of the scapula
  • High scapula
  • Maladie de Sprengel familiale
  • Sprengel's shoulder
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Overview

Sprengel deformity is a condition where one or both shoulder blades are underdeveloped and abnormally high placed.[1] There may also be anomalies of the bone and soft tissues in the shoulder girdle.[2] The condition is caused by the failure of descent of the shoulder blades during fetal development. It is more common in girls.[1] The condition is most commonly sporadic, although rare familial cases have been reported.[3]
Last updated: 5/9/2011

References

  1. Sprengel's Deformity. Orthoseek. http://www.orthoseek.com/articles/sprengel.html. Accessed 8/25/2010.
  2. Ahmad AA. Surgical correction of severe Sprengel deformity to allow greater postoperative range of shoulder abduction. J Pediatr Orthop. 2010 Sep; http://www.ncbi.nlm.nih.gov/pubmed/20733423. Accessed 5/9/2011.
  3. MM Thacker, Feldman D. Sprengel Deformity. eMedicine. July 6, 2009; http://www.emedicine.com/orthoped/topic445.htm. Accessed 8/25/2010.
  4. Wawrzynek W, Siemianowicz A, Koczy B, Kasprowska S, Besler K. Usefulness of computed tomography with three-dimensional reconstructions in visualization of cervical spine malformation of a child with Sprengel's deformity. Chir Narzadow Ruchu Orthop Pol. ;. 2005;70(2):131-3; http://www.ncbi.nlm.nih.gov/pubmed/16158872. Accessed 8/25/2010.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sprengel deformity. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Congenital upward displacement of the scapula
  • High scapula
  • Maladie de Sprengel familiale
  • Sprengel's shoulder
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.