Surgical insights and management in patients with the 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11.2DS) can present with a variety challenges to patients and their caregivers, many of which require surgical evaluation and intervention. Surgical needs can also extend long into adulthood, prompting evaluation and intervention throughout development and beyond. Here, we identify common concerns and patient needs associated with the 22q11.2DS from a general surgery perspective, their management, and typical management based on our institution's experience with 1263 patients.

1263 patients evaluated and treated at the 22q And You Center at the Children's Hospital of Philadelphia were enrolled and included in the study, from January 1992 to May 2017 Co-morbidities, procedures, and imaging studies performed were quantified and assessed via descriptive analysis.

Gastroesophageal reflux disease (GERD) and feeding difficulties were the most common surgical issues identified, while gastrostomy tube placement, anorectal procedures, and hernia repairs were the most common surgical interventions performed by general surgeons.

General surgical procedures are commonly needed in this population and are part of the complex needs these patients and their surgeons may encounter in the setting of a 22q11.2DS diagnosis. These findings will help to inform a well-coordinated, multidisciplinary approach to care.