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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
  • Sprengel's shoulder
  • Congenital elevation of the scapula
  • Sprengel's deformity
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Overview

Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula).[1] Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing.[2] Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities.[1][3] Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported.[3][4] It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function.[1]
Last updated: 1/5/2016

References

  1. Mihir M Thacker. Sprengel Deformity. Medscape Reference. November 7, 2014; http://emedicine.medscape.com/article/1242896-overview.
  2. Elena Trajcevska et. al. Sprengel Deformity. Radiopaedia. 2016; http://radiopaedia.org/articles/sprengel-deformity.
  3. Sprengel Deformity. NORD. 2000; http://rarediseases.org/rare-diseases/sprengel-deformity/.
  4. Cassandra L. Kniffin. Sprengel Deformity. OMIM. December 30, 2008; http://www.omim.org/entry/184400.
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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.
  • 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
  • Sprengel's shoulder
  • Congenital elevation of the scapula
  • Sprengel's deformity
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.