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

To provide a state-of-the-art, otolaryngology-focused review of 22q11.2 deletion syndrome (22q11.2DS), emphasizing recent developments in the understanding of airway, hearing, velopharyngeal, sleep, and perioperative manifestations that directly influence contemporary ENT practice.

PubMed, Scopus, and Cochrane Library were searched for English-language publications from January 2018 to September 2025. Additional data were identified through reference lists of key guidelines and landmark cohort studies.

A narrative review approach was used to synthesize recent literature addressing the epidemiology, anatomy, diagnostic advances, and management of otologic, palatal, airway, sleep, swallowing, vascular, immune, and perioperative features of 22q11.2DS. Priority was given to studies published within the past 5 years, multicenter analyses, updated clinical practice guidelines, and investigations describing evolving surgical and diagnostic paradigms. Articles focusing solely on cardiac, endocrine, or psychiatric aspects were excluded unless directly relevant to otolaryngologic care.

22q11.2DS presents a uniquely high burden of ENT disease across the lifespan, including chronic otitis media, elevated cholesteatoma risk, persistent velopharyngeal dysfunction, multilevel airway anomalies, sleep-disordered breathing, dysphagia, and perioperative vulnerability due to vascular, immunologic, and hematologic anomalies. Emerging imaging techniques, updated pediatric and adult guidelines, and expanded genotype-phenotype data have reshaped diagnostic and surgical strategies.

Otolaryngologists play a central role in lifelong care of individuals with 22q11.2DS. Structured surveillance, genotype-informed imaging, proactive sleep and airway assessment, and multidisciplinary perioperative planning are essential for improving outcomes. Standardized pathways and longitudinal, ENT-specific research are urgently needed to guide evidence-based management.