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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
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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

  1. Sprengel's Deformity. Orthoseek. Accessed 8/25/2010.