Named after Otta Gerhard Karl Sprengel, a German surgeon, who described the case in 1891, Sprengel’s deformity is a complex condition that is associated with malposition and dysplasia of the scapula that causes cosmetic deformity and restriction of shoulder range of motion. This condition also includes regional muscle hypoplasia or atrophy which will lead to cosmetic disfigurement and limitation of shoulder motion. The condition is congenital and marked by abnormal development and elevation of the scapula (shoulder blade). In fact, Sprengel’s deformity is one of the most common congenital malformations of the shoulder. Intensity of this condition can range substantially from being almost invisible when covered with clothes to the shoulder being elevated over 5 centimeters, with neck webbing. There may be a lump in the back of the base of the neck and restriction of movement of the shoulder or arm. Sometimes, the condition may be related to other skeletal (bone or cartilage) problems or abnormalities in the muscular system. Sprengel’s deformity can occur periodically without any specific reason but rarely it runs in families – autosomal dominant inheritance. The deformity is caused by a disruption in the normal development and movement of the scapula in early growth phase of the fetus (probably between the 9th and 12th weeks of gestation).
Signs and symptoms of Sprengel’s deformity:
Signs and symptoms of Sprengel’s deformity can change depending on the severity of the condition and whether additional skeletal or muscular abnormalities are present. In some people it may not show any noticeable signs and symptoms. Typically, the deformity is mild and affects only one side, but bilateral cases also have been reported, in which case it is functionally incapacitating, though much more cosmetically acceptable.
Apart from asymmetry in the shoulder alignment, the elevated shoulder blade may cause a lump in the back of the base of the neck, underdeveloped or incomplete muscles in the surrounding area and restricted range of motion of the shoulder and arm on the affected side. Some patients have bone, cartilage or fiber-like tissue between the shoulder blade and the vertebrae next to it.
Some common features associated with Sprengel’s deformity include:
- Klippel Feil syndrome
- limb length discrepancy
- an underdeveloped backbone (hemivertebrae)
- missing, fused, or extra ribs (cervical ribs)
- abnormalities of the collarbone
- abnormalities of the chest
- organs of the body displaced on the opposite side (for example, liver on the left and heart on the right)
- spina bifida occulta
- cleft palate
Symptoms of Sprengel’s deformity are subjective, which means two people affected with the condition may demonstrate two different set of symptoms. Majority of the people have abnormality of the shoulder, decreased length of neck, underdeveloped shoulder muscles and wry neck. Some people may have a cleft palate, but it is rare. A person with Sprengel’s deformity is at risk of developing spinal and renal anomalies.
Sprengel’s deformity is generally noticed at birth where patient and parents note a deformity of the upper back with associated restriction of ipsilateral shoulder movement. Due to the elevation of the scapula, the deformity is easily noticeable and there will be an associated restriction in the range of motion of the scapula and glenohumeral joint. The condition may also lead to regional muscle hypoplasia or atrophy. However, the condition is difficult to be diagnosed before one year of age. Cosmetic disfigurement and loss of function of the shoulder are two common patient complaints. In order to arrive at the diagnosis, your doctor may order some imaging studies. A Sprengel’s deformity is best visualized on an anteroposterior (AP) view of the chest and both shoulders.
On the basis of severity, a Sprengel’s deformity can be classified according to the Cavendish grading system:
Grade I – Very mild deformity is observed
When covered with clothes the deformity is almost invisible
Grade II – The deformity is still mild but appears as a bump
The superomedial portion of the high scapula is convex, forming a bump
Grade III – Moderate deformity with 2-5 cm of visible elevation of the affected shoulder
Grade IV – Severe deformity with >5 cm elevation of the affected shoulder, accompanied by neck webbing
Treatment for Sprengel’s deformity:
The extent of functional impairment or cosmetic disfigurement decides the nature of the treatment for the condition. Non-operative techniques are the first-line of treatment to manage the condition, especially physical therapy. Physical therapy aims at improving deformity, in order to facilitate effortless motion of the shoulder. Physical therapists improve the range of motion and flexibility of the shoulder and strengthen the weakened muscles.
For those who need surgery, the aim is to release the binding of the scapula and relocate the scapula. Surgery can improve the disfigurement arising out of condition. Surgery also enhances the contour of the neck and improves the overall functioning of the scapula when it is severely impaired. There are several surgical options that may be considered depending on each person’s situation. Surgery can improve range of motion and cosmesis in severe deformities. However, surgery is not warranted unless the condition is severe (grade III and IV).
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