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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Sprengel deformity?

Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both sides (bilaterally).[1]

In addition to shoulder asymmetry, the elevated shoulder blade may cause a lump in the back of the base of the neck; underdeveloped or incomplete muscles in the surrounding area; and limited movement of the shoulder and arm on the affected side. Some people have bone, cartilage or fiber- like tissue between the shoulder blade and the spinal bones (vertebrae) next to it.[2]

Other features that have been found in association with Sprengel deformity include:[1][2]
  • scoliosis
  • Klippel Feil syndrome
  • limb length discrepancy
  • an underdeveloped backbone (hemivertebrae)
  • missing, fused, or extra ribs (cervical ribs)
  • abnormalities of the collarbone
  • abnormalities of the chest
  • organs of the body displaced on the opposite side (ex: liver on the left and heart on the right)
  • spina bifida occulta
  • cleft palate
Last updated: 1/5/2016

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%
Autosomal dominant inheritance -
Cervical segmentation defect -
Hemivertebrae -
Neck muscle hypoplasia -
Rib segmentation abnormalities -
Scoliosis -
Shoulder muscle hypoplasia -
Spina bifida occulta -
Sporadic -

Last updated: 5/1/2016

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. Mihir M Thacker. Sprengel Deformity. Medscape Reference. November 7, 2014; http://emedicine.medscape.com/article/1242896-overview.
  2. Sprengel Deformity. NORD. 2000; http://rarediseases.org/rare-diseases/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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.