6p22 Microdeletion Syndrome

6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.

Epidemiology

Eight cases have been reported to date.

Clinical description

The most common facial features include eye anomalies: strabismus, deeply set eyes, and epicanthic folds and ear anomalies such as over-folded helices and low-set ears. This microdeletion was identified by fluorescence in situ hybridization (FISH) or comparative genomic hybridisation (CGH) microarray. Reported patients have deletions of variable size. The critical region for the 6p22 deletion phenotype is 2.2 Mb and encompasses 12 genes; their function is still largely unknown.