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    2019
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Sprengel’s Deformity of the Shoulder

Sprengel’s Deformity of the Shoulder

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:

  • scoliosis
  • 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.

Clinical presentation:

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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Q&As on Sprengel’s Deformity of the shoulder

1. What are the common symptoms of Sprengel deformity?

The symptoms are distinct from person to person and the severity of the symptoms also varies. Some of the commonly seen symptoms include abnormal shoulder morphology, where the structures surrounding the shoulder joint face any abnormality, abnormality of the shoulder girdle muscle structure, shrunken length of the neck, lesser development in the shoulder muscles, involuntary contractions of the muscle structure of the neck, developmental defect of the cleft palate (though this is a rare occurrence). 

2.What other disorders are related to Sprengel’s deformity?

There are many other disorders that have symptoms similar to Sprengel’s deformity. The symptoms are used to compare and diagnose Sprengel’s deformity accurately. Scoliosis is one such disorder where the spine abnormally curves to the side rather than running straight. The shoulder blades are uneven where one of them appears distinct from the other. 

Klippel-Feil Syndrome is a skeletal disorder where there is an abnormal fusion of two or more bones of the spinal column. Irregularity in the size of the neck and restricted movement of the head and neck. This disorder may be present at birth but may not be noticed until symptoms become ostensible.

3.How common is Sprengel’s deformity?

Sprengel’s deformity is a relatively rare congenital condition. Though considered rare, it is one of the common congenital defects of the scapula. It is caused by a failure of the scapular descent generally during 9-12 weeks of pregnancy. This deformity is recognized either at birth or during early childhood. Since the condition is rare, the true cause of Sprengel’s deformity is unknown. The undescended scapula affects women more often than men. The familial cause for the occurrence of Springel’s deformity has not been ascertained yet and so it cannot be termed hereditary. 

4. Is Sprengel’s deformity painful?–

The abnormality caused due to this syndrome is generally considered painless. In some cases, one or both the shoulder blades may be affected due to this deformity. Mild cases of deformity even go unnoticed until teenage since there is no marked pain. The shoulder blade gets displaced in the range of about 2-10 cms in Sprengel’s deformity. The range of movement of the shoulder is restricted and it also leads to cosmetic deformity. These are the main signs of Sprengel’s deformity and the patient feels no pain due to this. It also differs from person to person.

5. What are the different classifications of Sprfengel’s deformity?

In the Cavendish classification, there are 4 grades in which the deformity is grouped. They are as under:

Grade 1: Here the deformity is very mild and it is unnoticeable when covered with clothes. This is the basic form of Sprengel’s deformity.

Grade 2: In grade 2, the deformity is only mild but there is slight visibility in the form of a bump. The portion that is situated above and towards the midline of the high scapula is convex which shows as a bump.

Grade 3: in this case, the deformity is moderate with 2-3 cms of visible elevation.

Grade 4: Here the deformity is severe with an elevation of more than 5 cm. It is also accompanied by neck webbing. 

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