DiGeorge for the Otolaryngologist: A State-of-the-Art Review.

Area of Science:

• Otolaryngology
• Genetics
• Medical Review

Background:

• 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder with complex medical needs.
• Otolaryngologic manifestations are prevalent and significantly impact quality of life.
• Recent advancements necessitate an updated review focused on ENT care.

Purpose of the Study:

• To provide a comprehensive, otolaryngology-focused review of 22q11.2DS.
• To highlight recent developments in understanding ENT-related manifestations.
• To inform contemporary ENT practice and patient management.

Main Methods:

• Systematic literature search of PubMed, Scopus, and Cochrane Library (2018-2025).
• Narrative review synthesizing recent findings on otologic, palatal, airway, sleep, and perioperative features.
• Inclusion of studies within the past 5 years, multicenter analyses, and updated guidelines.

Main Results:

• 22q11.2DS is associated with a high burden of ENT diseases, including chronic otitis media, cholesteatoma, velopharyngeal dysfunction, airway anomalies, and sleep-disordered breathing.
• Patients exhibit perioperative vulnerabilities due to vascular, immunologic, and hematologic factors.
• Emerging imaging, updated guidelines, and genotype-phenotype data are transforming diagnosis and surgical approaches.

Conclusions:

• Otolaryngologists are integral to the lifelong care of individuals with 22q11.2DS.
• Structured surveillance, genotype-informed imaging, and multidisciplinary perioperative planning are crucial.
• Standardized pathways and dedicated ENT research are needed for evidence-based management.