Background and purpose: 22q11.2 deletion syndrome (22q11.2DS) is a rare chromosomal disorder produced in chromosome 22, by a microdeletion at the long arm. Craniofacial characteristics include: wide nasal root with bulbous tip, short filtrum, retrognathia, low-set ears, prominent and overfolding helix, narrow palpebral fissures and hypertelorism. Only a few publications provide information about cephalometric characteristics of this patients and most of them include patients clinically diagnosed without confirmation by FISH test. The aim of this study is to describe cephalometric characteristics of patients with 22q11.2DS, in comparison with standard values, outstanding its importance in a multidisciplinary treatment.

Methods: Twenty-seven patients with 22q11.2DS confirmed by FISH test underwent cephalometric characterization. Linear and angular cephalometric measurements were obtained. The analysis was performed using the statistical test t -test compared with a known average for each variable studied. Statistically significant differences ( p < 0.05).

Results: The study group demonstrated an anterior position of the maxilla ( p = 0.035), a greater skeletal convexity angle ( p = 0.000) and a greater posterior base angle ( p = 0.000).

Conclusions: Patients with 22q11.2DS showed differences in comparison to standard values, which should be considered in the evaluation and treatment planning of affected patients, during their growth and when it ends.