CHARGE Syndrome and Scoliosis: A Multicenter Study Highlighting Elevated Surgical Complications.

BACKGROUND

CHARGE syndrome is a rare congenital disorder characterized by a spectrum of anomalies, including coloboma, heart defects, choanal atresia, and ear abnormalities. Spinal deformities, particularly scoliosis, are frequently observed and may significantly impair quality of life by limiting pulmonary function, reducing mobility, and increasing pain. This study provides the first comprehensive evaluation of scoliosis management and outcomes in CHARGE syndrome, assessing both surgical and nonsurgical approaches.

METHODS

An international multicenter registry was queried to identify patients with a confirmed diagnosis of CHARGE syndrome and scoliosis. Demographic, clinical, and radiographic data were collected. Complications were categorized using the modified Clavien-Dindo-Sink system. Patient-reported outcomes were assessed using the EOSQ-24 and compared with a normative syndromic early-onset scoliosis cohort.

RESULTS

Eleven patients were identified: 5 underwent growth-friendly surgery (2 TGR, 1 VEPTR, and 2 MCGR), of which 3 progressed to fusion; 3 had primary fusion; and 3 were braced. Growth-friendly surgery reduced the average major curve from 74 to 49 degrees postoperatively, but this correction regressed over time, with major curves averaging 58 degrees at 5 years. In contrast, fusion provided more stable outcomes, reducing major curve from 54 degrees pre-fusion to 36 degrees at 2 years postoperatively. Four complications were reported in 2 of 8 surgical patients, yielding an instrument-related complication rate of 25%. All complications occurred after growth-friendly procedures and included hardware dislodgement and rod fractures. EOSQ-24 scores were similar to other syndromic cohorts across most domains.

CONCLUSION

Scoliosis in CHARGE syndrome is frequently severe and may require surgical intervention. While growth-friendly implants offer initial deformity correction, the benefit tends to diminish over time-potentially influenced by atypical growth patterns in CHARGE patients. Spinal fusion demonstrated greater long-term stability and a lower complication burden. The 25% complication rate observed in this cohort exceeds rates reported in other syndromic scoliosis populations, emphasizing the need for tailored perioperative planning for this population. Larger studies are needed to guide optimal treatment strategies in this complex patient population.

LEVEL OF EVIDENCE: Level IV-retrospective case series.