Sprengel's deformity

Sprengel's deformity
Specialty	Medical genetics

Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. The deformity is commonly associated with other conditions, most notably Klippel-Feil syndrome, congenital scoliosis including cervical scoliosis, fused ribs, the presence of an omovertebral bone and spina bifida. The left shoulder is the most commonly affected shoulder but the condition can be bilateral, meaning that both shoulders are affected. About 75% of all observed cases are girls. Treatment includes surgery in early childhood and physical therapy. Surgical treatment in adulthood is complicated by the risk of nerve damage when removing the omovertebral bone and when stretching the muscle tissue during relocation of the shoulder.

Presentation

The scapula is small and rotated so that its inferior edge points toward the spine. There is a high correlation between Sprengel's deformity and the Klippel-Feil syndrome. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as the omovertebral bone.

Eponym

It is named for Otto Sprengel.