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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sprengel deformity


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.

Overview

What is Sprengel deformity?

What are the signs and symptoms of Sprengel deformity?

How is Sprengel deformity treated?

What is Sprengel deformity?

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

What are the signs and symptoms of Sprengel deformity?

Signs and symptoms of Sprengel deformity include the physical appearance of a small, high placed shoulder blade(s), as well as restriction of movement in the shoulder girdle. There are also frequent associated problems, like absent or underdeveloped trapezius, deltoid, and rhomboid muscles, as well as spine and neck problems like torticollis, scoliosis and Klippel-Feil syndrome. Limb length discrepancy is not uncommon, and birth defects such as absent kidney, atrial septal defect and situs inversus can be present.[1]
Last updated: 5/9/2011

How is Sprengel deformity treated?

Treatment of Sprengel deformity varies depending on severity. Less severe cases may be managed with physical therapy. Severe cases may benefit from surgery. The goal of physical therapy is to maintain range of motion and to strengthen weak shoulder muscles. The aim of surgery is to improve range of motion and cosmetic appearance. There are a few different surgical procedures described for treating Sprengel deformity. In general, surgery involves the release and relocation of the shoulder blade.[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.


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.