Otolaryngologic manifestations of the 22q11.2 deletion syndrome

The 22q11.2 chromosome deletion syndrome occurs at a frequency of 1 in 4000 live births. Fluorescent in situ hybridization is a reliable means of testing for this genetic abnormality.

To describe the otolaryngologic manifestations of the 22q11.2 deletion syndrome to improve recognition and management of these disorders.

A retrospective medical record review of 102 patients with chromosome 22q 11.2 deletions confirmed by fluorescent in situ hybridization.

A multidisciplinary 22q11.2 deletion clinic at an academic children's hospital.

All otolaryngologic problems were recorded, including facial dysmorphic features, velopharyngeal insufficiency, speech and airway abnormalities, feeding difficulties, gastroesophageal reflux, hearing loss, otitis media, sinus problems, and vascular anomalies. Additionally, available objective test results were recorded, including those from audiograms, imaging studies, endoscopies, speech evaluations, and vascular studies.

Dysmorphic facial features were found in most patients. Velopharyngeal incompetence was noted in 76 patients, while overt submucosal clefts were found in 11 patients. Most patients had speech and language delays. In addition, 53 patients had chronic or recurrent otitis media, and 28 had recurrent sinorhinitis. Furthermore, feeding problems were found in 48 patients, while vascular anomalies of the head and neck were found in 16 patients.

Otolaryngologic abnormalities are relatively common and important to recognize with the 22q11.2 deletion syndrome.