Rare DiseasesSprengel Deformity: Causes, Symptoms, Diagnosis, Treatment, and Management

Sprengel Deformity: Causes, Symptoms, Diagnosis, Treatment, and Management

Sprengel deformity is a condition that occurs as a result of an abnormality in the normal development of the scapula during the embryonic period. This condition is characterized by the scapula being located higher and more inclined than it should be in the upper part of the normal chest wall. The abnormal position of the scapula can restrict shoulder movements and affect the appearance of the shoulder.

Sprengel deformity is often associated with other congenital anomalies and can be related to conditions such as Klippel-Feil syndrome. Additionally, genetic factors related to the normal development of shoulder muscles and ligaments are thought to be involved.

In mild cases, symptoms may be relatively mild and may not require treatment. However, in moderate or severe cases, surgical intervention may be necessary due to the severity of symptoms and the position of the scapula. Surgical procedures generally aim to reposition the scapula downward and improve shoulder function.

Causes of Sprengel Deformity

The exact cause of Sprengel deformity is not known, but it is believed to be related to abnormalities that occur during embryonic development. This condition can occur when there is a problem with the normal development of shoulder bones and muscles in the early stages of embryogenesis.

Possible causes of Sprengel deformity include genetic factors, abnormalities in embryonic development, exposure to radiation or toxic substances. However, specific causes may vary in each case and may not be fully determined. In some cases, Sprengel deformity may be associated with other congenital anomalies. This condition can be associated with spinal anomalies such as Klippel-Feil syndrome or other birth defects. However, further research is needed on the possible causes of Sprengel deformity.

Sprengel deformity

Symptoms of Sprengel Deformity

The symptoms of Sprengel deformity are usually visible anatomical abnormalities in the shoulder area. These symptoms may include:

  • Abnormal position of the scapula
  • Restriction of shoulder movements
  • Asymmetric appearance
  • Physical deformities in the shoulder
  • Shoulder and neck pain

Diagnosis of Sprengel Deformity

The diagnosis of Sprengel deformity is usually made through physical examination and imaging tests:

Physical Examination: The doctor carefully examines the patient’s shoulder and back. Visual inspection is performed to determine the abnormal position and size of the scapula.

Imaging Tests: Imaging tests such as X-rays, computed tomography, and magnetic resonance imaging (MRI) allow for a detailed evaluation of the scapula and shoulder structure.

Three-Dimensional Imaging: Three-dimensional CT or MRI can be used to visualize the abnormal position of the scapula and other associated structural changes in more detail.

Other Tests: Sprengel deformity can sometimes be associated with other congenital anomalies. Therefore, the doctor may request additional tests or imaging studies to evaluate other body systems.

Treatment of Sprengel Deformity

The treatment of Sprengel deformity varies depending on the severity of symptoms, the patient’s age, and the degree of deformity:

Observation and Physical Therapy: Physical therapy can help strengthen shoulder muscles, improve mobility, and correct posture.

Orthotics and Exercises: Specially designed orthotics and exercise programs can be used to improve shoulder mobility.

Conservative Surgical Intervention: If symptoms are severe and other treatment methods are not effective, surgical intervention may be considered. Surgery aims to restore the normal position of the scapula.

Movement Restriction and Protective Measures: During the postoperative period, shoulder movements may need to be restricted for a certain period to improve mobility and support wound healing.

Sprengel's Deformity - Pediatrics - Orthobullets

Management of Sprengel Deformity

The management of Sprengel deformity focuses on relieving symptoms, improving shoulder function, and enhancing quality of life:

Regular Follow-up and Monitoring: Regular follow-up of patients with Sprengel deformity is critical to assess whether the deformity is progressing and to adjust the treatment plan as needed.

Use of Orthoses or Supportive Devices: In some cases, specially designed orthoses or supportive devices can be used to improve shoulder mobility and alleviate symptoms.

Adherence to Treatment and Education: It is important for patients and their families to fully adhere to treatment and regularly implement recommended methods.

Psychosocial Support: Participation in support groups, counseling services, and other psychosocial support resources can contribute to emotional well-being.

Monitoring and Management of Complications: In rare cases, Sprengel deformity can lead to restricted shoulder mobility and other complications.

The post Sprengel Deformity: Causes, Symptoms, Diagnosis, Treatment, and Management first appeared on Probiyotix.

Exclusive content

Latest article

More article