KBG syndrome is characterized by macrodontia of the upper central incisors, a distinct craniofacial appearance, skeletal abnormalities and neurological involvement that includes developmental delay, intellectual disabilities and seizures. KBG syndrome is considered a subphenotype of 16q24.3 microdeletion syndrome, which includes the craniofacial appearance, seizures and developmental delay. However, individuals with a 16q24.3 microdeletion may have a more complex phenotype because autism and structural and neuronal migrational brain abnormalities have also been reported. Most cases of KBG syndrome have been de novo but familial cases have been documented. GeneDx conducts bi-directional sequence analysis of 11 coding exons and the flanking exon/intron boundaries of the ANKRD11 gene. If no mutation is identified by sequencing, whole genome array CGH is available to detect deletions involving ANKRD11 in 16q24.3.