Which are the symptoms of Sprengel Deformity?

Sprengel deformity, also known as congenital high scapula or undescended scapula, is a rare congenital musculoskeletal condition that affects the development and positioning of the shoulder blade (scapula). This condition is typically present at birth and can vary in severity from mild to severe.

Symptoms:

The most noticeable symptom of Sprengel deformity is the asymmetrical appearance of the shoulders. One shoulder blade may be higher than the other, giving the affected side a raised or elevated appearance. This difference in shoulder height may become more apparent as the child grows.

Restricted shoulder movement is another common symptom. The affected shoulder may have limited range of motion, making it difficult for the individual to perform certain activities or fully raise their arm. This restriction in movement can vary depending on the severity of the deformity.

In some cases, individuals with Sprengel deformity may experience shoulder pain or discomfort. This can be due to the abnormal positioning of the scapula, which can cause impingement of surrounding structures such as muscles, tendons, and nerves. The pain may worsen with certain movements or activities.

Visible deformities may also be present in the affected shoulder. The scapula may appear smaller in size, misshapen, or rotated. Additionally, there may be a noticeable prominence or bulge in the upper back due to the abnormal positioning of the scapula.

In severe cases of Sprengel deformity, associated skeletal abnormalities may be present. These can include abnormalities in the vertebrae, ribs, or other bones in the shoulder girdle. These skeletal abnormalities can further contribute to the restricted shoulder movement and overall functional impairment.

It is important to note that the severity of symptoms can vary among individuals with Sprengel deformity. Some individuals may have mild symptoms that do not significantly impact their daily activities, while others may experience more pronounced symptoms and functional limitations.

Diagnosis and Treatment:

Sprengel deformity is typically diagnosed through a combination of physical examination, medical history review, and imaging studies such as X-rays or MRI scans. These tests help evaluate the position and structure of the scapula, as well as identify any associated skeletal abnormalities.

Treatment for Sprengel deformity depends on the severity of the condition and the presence of associated abnormalities. In mild cases, observation and monitoring may be recommended, as the deformity may improve or become less noticeable over time. Physical therapy exercises can also be prescribed to improve shoulder mobility and strength.

In more severe cases, surgical intervention may be necessary. The goal of surgery is to reposition the scapula and improve shoulder function and appearance. The specific surgical technique used will depend on the individual's unique anatomy and the severity of the deformity.

Conclusion:

Sprengel deformity is a congenital condition that affects the development and positioning of the shoulder blade. The most common symptoms include asymmetrical shoulder appearance, restricted shoulder movement, shoulder pain, visible deformities, and associated skeletal abnormalities. Diagnosis is typically made through physical examination and imaging studies. Treatment options range from observation and physical therapy to surgical intervention, depending on the severity of the deformity. Early detection and appropriate management can help improve shoulder function and overall quality of life for individuals with Sprengel deformity.