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Sprengel deformity

Disease definition

A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.

ORPHA:3181

Classification level: Disorder
  • Synonym(s):
    • High scapula
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q74.0
  • ICD-11: LB72.1
  • OMIM: 184400
  • UMLS: C0152438
  • MeSH: C535802
  • GARD: 7693
  • MedDRA: 10010455

Additional information

Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.