Congenital elevation of the scapula with rotation of its lower angle toward the spine.

The abnormality may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. It is due to failure of descent of the scapula during embryonic development from its position in the neck to its normal position in the posterior thorax. It happens usually in girls, and may have a genetic basis in some instances.

Associated malformations are almost always present with a Sprengel deformity. These can include anomalies in the cervicothoracic vertebrae or the thoracic rib cage. The most common anomalies are absent or fused ribs, chest-wall asymmetry, Klippel-Feil syndrome, cervical ribs, congenital scoliosis, and cervical spina bifida. When scoliosis is present, the most common curves are in the cervicothoracic or upper thoracic region. A relationship between a Sprengel deformity and diastematomyelia has also been shown.

Another anomaly that is seen in approximately one third of patients with a Sprengel deformity is the omovertebral bone. This is a rhomboid- or trapezoid-shaped structure of cartilage or bone that usually lies in a strong fascial sheath, which extends from the superomedial border of the scapula to the spinous processes, lamina, or transverse processes of the cervical spine, most commonly the fourth to seventh cervical vertebrae. A well-developed joint can form between the scapula and the omovertebral bone; this bone can also be a solid osseous bridge. The omovertebral bone is best visualized on a lateral or oblique radiograph of the cervical spine.