Sprengel Deformity – Congenital High Scapula

Sprengel deformity is a congenital condition where the scapula is small and located higher than its normal position because of its failure to descend to its position. There could also be scapular winging and presence of omovertebral bone 30-50%]. Omovertebral bone is an anomalous bone connecting the elevated scapula to the cervical spine. It is also called omovertebral bar and connects the superior medial angle of the scapula and cervical spine.

Sprengel deformity is also known by following names which convey its higher position

• Congenital Elevation of the Scapula
• Congenital High Scapula
• Scapula Elevata

Sprengel deformity is the most common congenital malformation of the shoulder.

It is named so after Sprengel who described it.

Females are affected about 3 times more commonly than males.

The condition is sporadic but may be found in families in autosomal dominant inheritance.

Bilateral cases are seen in about 10-30%.

Pathophysiology of Sprengel Deformity

The scapula bone or shoulder blade as it is commonly called is located too high in Sprengel deformity. Because of presence of omovertebral bar, there is a restriction of shoulder movements as well.

The affected shoulder blade is hypoplastic too [underdeveloped] and rotated toward the middle of the body.

Some of the cases have dysplasia of scapula as well [irregular shape

The condition is typically present at birth (congenital), but may not become apparent till late.

The exact, underlying cause of Sprengel deformity is unknown. Rarely, some familial cases have been noted though mostly it is sporadic occurrence.

The condition is thought to occur due to a failure of the descent of scapula.

In the fetus, the scapula forms opposite the C4,5,6 at about 5 weeks and then descends to the thorax by the end of 12 weeks. Any obstacle to its descent may cause the scapula to stay small and high [Sprengel deformity].

The affected scapula is not only high but also a hypoplastic and distorted in shape.

There is the rotation of the inferior angle medially resulting in an inferior facing glenoid.

The omovertebral bar [can be fibrous, cartilaginous, or bony] is seen in about 30% cases and spans the superomedial angle of the scapula to the cervical vertebrae [spinous process, lamina, or transverse process].

The muscles of the shoulder are affected too.  Trapezius muscle may be absent or weak, especially in its lower part. There could be hypoplasia of rhomboids and levator scapulae.

Serratus anterior,  pectoralis major, pectoralis minor, latissimus dorsi, and sternocleidomastoid muscles may be affected.

Associated Conditions

• Rib abnormalities like rib fusion, absent ribs and cervical rib
• Klippel-Feil syndrome
• Upper extremity anomalies like shortening of humerus, malformed clavicle
• Congenital scoliosis
• Diastematomyelia
• Mandibulofacial dysostosis.
• Kidney malformations [less common]
  • Ectopic kidne
  • Renal hypoplasia
  • Absent kidney

Sprengel deformity may be associated with following syndromes too

• Klippel-Feil syndrome
• Greig syndrome
• Poland syndrome
• VATER (ie, vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia)
• Velocardiofacial syndrome
• Floating-harbor syndrome
• Goldenhar syndrome

Classification of Sprengel Deformity

The classification by Cavendish is based on the severity of the  Sprengel deformity [also called Cavendish grades]

• Grade 1
  • Mild deformity
  • Shoulders almost level and hardly noticeable
• Grade 2
  • Mild deformity but noticeable as lump
• Grade 3
  • Moderate deformity
  • Affected shoulder is elevated 2-5 cm higher than the opposite shoulder.
• Grade 4
  • Severe deformity
  • Very high scapula with superomedial angle at the occiput
  • Neck webbing.

Clinical Presentation

The deformity is present at birth but may be noted later. Often, it is discovered in children during the evaluation of scoliosis.

The asymmetry of the shoulder caused is a typical finding.

On examination, the level of the scapula in relation to the vertebral column varies with the severity of the condition.

On the affected side, the neck is fuller and shorter. The affected scapula is often tilted obliquely upward and laterally.

Passive movements of the glenohumeral joint [joint between humerus and glenoid] are usually within normal range but scapulocostal motion [between scapula and thorax] is restricted.

Kyphosis and Torticollis may be present. Deformities of the rib cage, such as the absence of ribs, may be clinically palpable.

When the condition is bilateral, the neck appears very short and thick. The cervical lordosis may be increased through abduction on both sides would be comparable.

Imaging

X-rays

Following views are the best

• Anteroposterior views of both shoulders with the arms at the sides and with the shoulders in both maximal active and passive abduction
• Lateral view of the cervical and dorsal spine to rule out associated spinal anomalies
• Oblique and lateral views of the scapula to demonstrate the omovertebral bone.

A radiographic classification by Rigault helps in describing the severity of the condition –

• Grade I- Superomedial angle of scapula lower than T2 but above T4 transverse process
• Grade II- Superomedial angle located between C5 and T2 transverse process
• Grade III: superomedial angle above C5 transverse process

CT/MRI

CT scans with 3-D reconstruction may be performed to visualize the affected region and to visualize the omovertebral bar. CT is useful in planning before surgical procedure too.

MRI is often not required though can help in the analysis of omovertebral bar.

Treatment

When cosmetic and functional concerns are not much, surgical correction is not required. The treatment consists of physical therapy for providing strength and range of motion.

Surgical correction is indicated in severe cosmetic concerns or functional deformities  (abduction < 110-120 degrees).

The surgery is best done between age 3 to 8 years of age as the risk of nerve injury increases after that.

Following corrective procedures have been described in for correction of Sprengel deformity-

• Woodward procedure
  • Detachment and reattachment of medial parascapular muscles at spinous process origin
  • This allows the scapula to move inferiorly and rotate into more shoulder abduction
  • Resection of superomedial border of the scapula is done in modified Woodward
• Schrock, Green procedure
  • Extraperiosteal detachment of paraspinal muscles at the scapular insertion
  • reinsertion after inferior movement of the scapula with traction cables

To aid for better mobility clavicle osteotomy and resection of the omovertebral bar can be done.

The main objectives of surgery are to

• Improve the cosmetic appearance
• Improve contour of the neck
• Improve the scapular function

References

• Dino Samartzis, Jean Herman, John P Lubicky, Francis H Shen. Sprengel’s Deformity in Klippel-Feil Syndrome. Spine. 2007;32:E512,
• Ahmad AA. Surgical correction of severe Sprengel deformity to allow greater postoperative range of shoulder abduction. J Pediatr Orthop. 2010;30:575–81.
• Leibovic SJ, Ehrlich MG, Zaleske DJ. Sprengel deformity. J Bone Joint Surg Am. 1990;72:192–7.
• Baba H, Maezawa Y, Furusawa N, Chen Q, Imura S, Tomita K. The cervical spine in the Klippel-Feil syndrome: A report of 57 cases. IntOrthop. 1995;19:204–8.