Among its broad spectrum of clinical manifestations, 22q11DS often includes musculoskeletal problems, with orthopaedic and spinal issues, such as scoliosis. These orthopaedic problems can have a significant impact on mobility, physical health, and quality of life, requiring ongoing medical attention and management. 

• Scoliosis is one of the most notable spinal conditions in people with 22q11DS, present in 20-50% of individuals. It is a lateral curvature of the spine that typically develops during childhood or adolescence. It may develop slowly over time, and it can range from mild to severe. It can lead to back pain, difficulty with posture, reduced lung function, and impaired mobility. Early identification and monitoring of scoliosis are critical. Treatment options include physical therapy, bracing, and in severe cases, surgical intervention such as spinal fusion to correct the curvature and prevent further progression.

• Individuals with 22q11DS may experience joint hypermobility, where the ligaments surrounding the joints are more flexible than normal. This can lead to joint instability and an increased risk of dislocations or subluxations, most commonly in the shoulders, knees, and fingers. Joint hypermobility can cause pain and discomfort and may limit the individual’s ability to perform sports or other physical activities. In severe cases, they can result in long-term musculoskeletal problems.

• Short Stature is another common feature in individuals with 22q11DS. Growth delays are often related to abnormalities in bone development and growth plate function. Growth hormone therapy may be considered in some cases, but the decision to pursue treatment depends on the individual’s specific needs and overall health status. Height and weight should be measured regularly.

• Hip Dysplasia, a condition in which the hip joint is not properly formed, is also more common in individuals with 22q11DS. This condition can lead to hip pain, limping, and decreased range of motion. Treatment may include physical therapy, and in some cases, surgical intervention may be necessary.

• Pronation of the foot refers to the inward roll of the foot while walking or standing. In 22q11DS, mild to moderate foot pronation is relatively common due to hypotonia (low muscle tone) and ligamentous laxity. These features make the arches less supportive, leading to a "flatfoot" appearance and overpronation. While often mild, significant pronation may affect gait and posture, and may require orthotic support or physical therapy.

• Clubfoot (talipes equinovarus) is a more severe congenital deformity where the foot is twisted inward and downward and is likely due to the overall musculoskeletal and connective tissue abnormalities associated with the syndrome. Treatment typically involves serial casting, sometimes followed by bracing or surgery, depending on severity. When clubfoot is part of 22q11DS, the response to treatment may vary due to associated neuromuscular and connective tissue challenge. 

Frequent nonspecific foot or lower leg pains: the cause is not yet fully understood.

Managing Orthopaedic and Spinal Issues

The management of orthopaedic and spinal issues in 22q11DS typically involves a team of specialists, including orthopaedic surgeons, physical therapists, and genetic counselors. Early intervention is key.

• Regular monitoring and screening for scoliosis and other musculoskeletal abnormalities (X-rays and clinical evaluations) is essential. Monitoring joint function and stability is also important.

• Physical therapy is often recommended for individuals with 22q11DS to improve strength, flexibility, and mobility. For scoliosis, physical therapy may help improve posture and alleviate discomfort. For joint hypermobility, strengthening exercises are particularly important.

• Surgical intervention may be required in severe cases of scoliosis or joint instability, such as spinal fusion surgery, hip realignment or joint replacement