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Sprengel deformity
Other Resources UpToDate PubMed

Sprengel deformity

Contributors: Janet Ngoc Tran, Danielle Wilbur MD
Other Resources UpToDate PubMed

Synopsis

Causes / typical injury mechanism: Sprengel deformity is a rare condition where one or both shoulder blades are underdeveloped and abnormally high, leading to decreased range of motion (ROM) in the neck and shoulders. Also called congenital high scapula or congenital elevation of scapula, it has been reported as an autosomal dominant inherited condition, but it most often occurs sporadically due to a disruption in normal fetal skeletal development.

Classic history and presentation: Common signs and symptoms include nuchal rigidity, neck and shoulder muscle hypoplasia, muscle atrophy, and limited ROM of the shoulders. It is often diagnosed as a component of other congenital disorders, such as Klippel-Feil syndrome.

Prevalence:
  • Age – Severe cases are diagnosed at birth, but diagnosis is often delayed in mild or moderate cases lacking other abnormalities. Later presentations typically occur in the pediatric age group, often during scoliosis screening.
  • Sex / gender – 3:1 female-to-male ratio
Pathophysiology: Failure of the scapula to descend during weeks 3-5 of embryonic development results in deformity and surrounding muscular hypoplasia.

Grade / classification system: Cavendish classification is most often used.
  • Grade 1 (very mild)
    • Shoulders level
    • Deformity not visible when dressed
  • Grade 2 (mild)
    • Shoulders slightly uneven
    • Minor deformity visible when dressed: lump in web of neck
  • Grade 3 (moderate)
    • Shoulder elevated by 2-5 cm
    • Obvious deformity when dressed
  • Grade 4 (severe)
    • Shoulder is elevated > 5 cm
    • Superior angle of scapula lies close to occiput

Codes

ICD10CM:
Q74.0 – Other congenital malformations of upper limb(s), including shoulder girdle

SNOMEDCT:
79120002 – Congenital elevation of scapula

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Long thoracic nerve palsy / Winged scapula
  • Scoliosis

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:11/08/2023
Last Updated:11/12/2023
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Sprengel deformity
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