22q11.2 deletion and often overlooked orthopedic manifestations a review

22q11.2 deletion

22q11.2 deletion and often overlooked orthopedic manifestations a review.

22q11.2 deletions – caused by a deletion within the long arm of chromosome 22 – are one of the most common microdeletion syndromes. Orthopedic issues (relating to the bones or muscles) are common in patients with 22q11.2 deletions, with cervical spine abnormalities (the part of the spinal column within the neck) and scoliosis being the most typical symptoms.

Currently, research regarding the significance of these orthopedic issues is lacking since they are often overlooked when compared to the other symptoms of a 22q11.2 deletion. Therefore, this article hopes to raise awareness of these issues and potentially provide better care options for patients in regards to their orthopedic needs. The article achieves this by examining the results of 69 previous studies on the 22q11.2 deletion, extracting the information on orthopedic symptoms, and combining everything into one review.

This study confirms that the most frequently occurring orthopedic issues include cervical spine abnormalities (occurring in 90-100% of patients), scoliosis (occurring in up to 60% of patients), clubfoot(occurring in up to 13% of patients), upper and lower limb deformities, and growth retardation. Though issues within the spinal cord are uncommon, patients are advised to monitor neurological issues as a precaution, since these symptoms involve the spine. Scoliosis can occur at any age during growth, so screening for this throughout childhood is recommended for patients. It is also important to note that a 22q11.2 is associated with rheumatoid arthritis. This should be taken into consideration when treating the patient, especially if measures can be done to decrease joint pain and deterioration.

Though definitive answers cannot be provided by this review, the article clarifies some of the orthopedic issues associated with 22q11.2 deletion. Further research focusing on these issues – especially ones focusing on treatment options – are greatly needed. Based on the current findings, the article concludes by recommending cervical spinal abnormality monitoring by the age of six, and routine scoliosis screening during childhood.

Homans et al. “Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review”. American Journal of Medical Genetics 2018, in press.