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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congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. 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. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. 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.Sprengel deformity is a
Last updated: 1/5/2016
- Mihir M Thacker. Sprengel Deformity. Medscape Reference. November 7, 2014; http://emedicine.medscape.com/article/1242896-overview.
- Elena Trajcevska et. al. Sprengel Deformity. Radiopaedia. 2016; http://radiopaedia.org/articles/sprengel-deformity.
- Sprengel Deformity. NORD. 2000; http://rarediseases.org/rare-diseases/sprengel-deformity/.
- Cassandra L. Kniffin. Sprengel Deformity. OMIM. December 30, 2008; http://www.omim.org/entry/184400.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.