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 The scapula (plural scapulae or scapulas), also known as the shoulder blade, is the bone that connects the humerus (upper arm bone) with the clavicle (collar bone). Like their connected bones, the scapulae are paired, with each scapula on either ...

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. Majority of the cases are

sporadic In mathematics, a sporadic group is one of the 26 exceptional groups found in the classification of finite simple groups. A simple group is a group ''G'' that does not have any normal subgroups except for the trivial group and ''G'' itself. Th ...

with very few having

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

inheritance. The deformity is associated with the following conditions:- * Klippel–Feil syndrome (most common) * congenital

scoliosis Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not t ...

, * hemivertebrae, *

cervical ribs A cervical rib in humans is an extra rib which arises from the seventh cervical vertebra. Their presence is a congenital abnormality located above the normal first rib. A cervical rib is estimated to occur in 0.2% to 0.5% (1 in 200 to 500) of th ...

, ⁣ * fused

rib In vertebrate anatomy, ribs ( la, costae) are the long curved bones which form the rib cage, part of the axial skeleton. In most tetrapods, ribs surround the chest, enabling the lungs to expand and thus facilitate breathing by expanding the ches ...

s, * omovertebral connections which are fibrous, cartilaginous or bony connection between the superomedial angle of scapula with the spinous process, lamina or transverse process of cervical spine * spina bifida, * cleft palate. The left shoulder is more commonly affected, but it can occur bilaterally as well. About 75% of all observed cases are girls. Treatment includes

surgery Surgery ''cheirourgikē'' (composed of χείρ, "hand", and ἔργον, "work"), via la, chirurgiae, meaning "hand work". is a medical specialty that uses operative manual and instrumental techniques on a person to investigate or treat a pat ...

in early childhood and

physical therapy Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient ...

. 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

Klippel–Feil syndrome and Sprengel's deformity

The scapula is small and rotated so that its inferior edge points toward the spine. 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 an omovertebral bone. There is a high correlation between Sprengel's deformity and Klippel–Feil syndrome.

Diagnosis

Diagnosis is clinical and can be confirmed by instrumental diagnostics like conventional radiography and

CT scan A computed tomography scan (CT scan; formerly called computed axial tomography scan or CAT scan) is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers ...

. It may be indicated to perform a genetic analysis, as the deformity may occur under other conditions (see Klippel–Feil syndrome).

Eponym

It is named for German surgeon Otto Sprengel, who described it in 1891.O. K. Sprengel. Die angeborene Verschiebung des Schulterblattes nach oben. Archiv für klinische Chirurgie, Berlin, 1891, 42: 545-549.

References

External links

Congenital disorders of musculoskeletal system {{genetic-disorder-stub