What are the other Names for this Condition? (Also known as/Synonyms)

• Congenital Elevation of the Scapula
• Scapula Elevata
• Sprengel’s Shoulder

What is Sprengel Deformity? (Definition/Background Information)

• Sprengel Deformity is a rare, congenital disorder seen in children. It is characterized by malformation of the shoulder bones leading to restricted shoulder movement and other related signs and symptoms
• Sprengel Deformity is a sporadic condition, which indicates that the exact cause of the condition is not known. They are thought to occur due to a failure in early fetal development, when the shoulder blades fail to come down from the neck to their normal position
• In some cases, it has been inherited as an autosomal dominant trait (where only one copy of the mutation is inherited)
• Children with this deformity will have one scapula located in a higher position than the other, resulting in shoulder movement abnormalities and difficulties. Sprengel Deformity is more prevalent in girls than in boys
• The deformity can be bilateral (both the shoulders may be affected) or unilateral. However, it has been observed that generally the left shoulder is commonly affected in most cases
• Surgical intervention and physical therapy in early childhood is the best form of treatment for this condition

Who gets Sprengel Deformity? (Age and Sex Distribution)

• Any individual is likely to be affected by Sprengel Deformity, which is a congenital disorder present at the time of birth. The incidence is less than 1 in 10,000 births
• Girls are more affected than boys in a ratio of 3:1
• No racial, ethnic, or geographical preferences have been observed

What are the Risk Factors for Sprengel Deformity? (Predisposing Factors)

The following are the risk factors for Sprengel Deformity:

• Individuals with Klippel-Feil syndrome are more susceptible to Sprengel Deformity. Klippel-Feil syndrome is an unusual and congenital bone disorder distinguished by the abnormal joining of two or more spinal bones in the neck
• Genetic factors: In rare cases Sprengel Deformity is said to be inherited as an autosomal dominant trait where only one copy of the mutation is inherited, which is sufficient enough to cause the abnormality
• Gender: Girls have a higher risk of developing this skeletal disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Not having a risk factor does not mean than an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Sprengel Deformity? (Etiology)

Sprengel Deformity is a congenital skeletal abnormality that is characterized by a malformation of the shoulder girdle, underdevelopment of the scapula (the shoulder blade) on one or both sides, and upward dislocation of the scapula causing difficulties to raise the arms above the head on the affected side.

Sprengel Deformity occurs spontaneously and the exact cause of development of this condition is unknown. It is thought to occur due to:

• Failure during early fetal development, when the shoulder blades fail to position normally in the thoracic region
• In some cases, it has been inherited as an autosomal dominant trait

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Sprengel Deformity?

Typically, the signs and symptoms of Sprengel Deformity can be diagnosed only in the adolescent stage. The most commonly exhibited signs and symptoms include:

• The deformity does not pose any pain
• One scapula is located higher than the other
• The scapula asymmetry may be mistaken for scoliosis (a disorder causing abnormal spine curvature)
• Restriction of shoulder movements
• Omovertebral connection: The connection between the elevated scapula and one of the cervical vertebrae is also seen
• Absence of the sternocleidomastoide (muscle responsible for neck movements) is observed, or it may contain multiple adhesions
• The trapezius muscle is also commonly affected. The main function of the muscle is to stabilize and move the scapula

How is Sprengel Deformity Diagnosed?

A diagnosis of Sprengel Deformity requires:

• Complete evaluation of medical history along with a thorough physical examination, with special emphasis on shoulder and back examination
• X-ray of the chest and both shoulders
• CT scan of the chest and shoulder (more helpful while planning for surgical correction)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Sprengel Deformity?

Sprengel Deformity can lead to the following complications:

• Disfigurement and limitation of shoulder movements
• Complications may occur after surgical correction of the deformity and include:
  • Incomplete correction
  • Weakness of the shoulder muscles
  • Injury to nerves in the vicinity
  • Winging of the scapula resulting from incomplete reattachment of the serratus anterior muscle   

How is Sprengel Deformity Treated?

The treatment of Sprengel Deformity may involve both non-surgical and surgical procedures.

Non-surgical treatment measures: It consists of physical therapy and includes exercises to improve the individual's range of motion and strengthen the surrounding shoulder muscles

The need for surgical treatment arises when:

• Sprengel Deformity presents significant cosmetic concerns
• There is a significant restriction of movement in children below the age of six years

Surgical treatment measures:

• Children between the age group of 3-8 years are most suited for surgery
• Surgical treatment in adults is complicated because it involves the risk of damaging the nerves such as the dorsal scapular nerve, spinal accessory nerve, and the suprascapular nerves, while removing the omovertebral bone, stretching the muscle tissues for relocating the shoulder

• The Woodward procedure method is most often used in the treatment of Sprengel Deformity. This technique involves the following steps:

  • The resection of omovertebral bone
  • Division of vertebral attachments of trapezius, rhomboids, and levator scapula
  • Subsequently, the scapula is rotated and translated
  • Detached muscle origins are then sutured to more interior vertebral spinous processes    

How can Sprengel Deformity be Prevented?

• Currently, there are no specific methods or guidelines to prevent Sprengel Deformity, since it may be a genetic condition
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Sprengel Deformity? (Outcomes/Resolutions)

The prognosis for Sprengel Deformity depends on the following factors:

• Severity of the deformity
• Age at which surgery is performed: It is generally observed that surgeries performed before the age of 6 years, carries a higher percentage of success
• Type of procedure used: Relocation surgeries have better outcomes
• Associated anomalies: Other underlying medical conditions that usually accompany Sprengel Deformity, such as Klippel-Feil syndrome, will have an impact on the final prognosis

Additional and Relevant Useful Information for Sprengel Deformity:

Sprengel Deformity is often associated with other conditions such as:

• Cervical ribs
• Congenital scoliosis
• Floating-Harbor syndrome
• Goldenhar syndrome
• Greig syndrome
• Klippel-Feil syndrome
• Muscular hypoplasia
• Poland syndrome
• Renal abnormalities
• Torticollis
• VACTERL association
• Velocardiofacial syndrome
• X-linked dominant hydrocephalus