Sprengel deformity [Supplementary Concept]

A congenital condition where one or both shoulder blades (scapula) are underdeveloped and abnormally high placed. There may also be anomalies of the bone and soft tissues in the shoulder girdle, as well as the ribs and spine. It is caused by the failure of descent of the shoulder blades during fetal development and is more common in females. The condition is usually sporadic; familial cases appear to be autosomal dominant. OMIM:184400

Date introduced: August 25, 2010

MeSH Unique ID: C535802

Heading Mapped to:

• Congenital Abnormalities
• Scapula/abnormalities
• Shoulder Joint/abnormalities

Entry Terms:

• High scapula
• Maladie de Sprengel familiale
• Sprengel's shoulder