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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
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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Sprengel deformity. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the shoulder 90%
Sprengel anomaly 90%
Cleft palate 7.5%
Autosomal dominant inheritance -
cervical segmentation defects -
Hemivertebrae -
Neck muscle hypoplasia -
Rib segmentation abnormalities -
Scoliosis -
Shoulder muscle hypoplasia -
Spina bifida occulta -
Sporadic -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Sprengel's Deformity. Orthoseek. http://www.orthoseek.com/articles/sprengel.html. 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.