KMT2A and Wiedemann-Steiner syndrome: Mutations in the KMT2A gene have been reported as being responsible for WDSTS.[6] Since then, the genomic spectrum of this syndrome continues to expand.[7] Here, we describe a patient with the typical features of BPES, however a de novo heterozygous truncating variant was identified in the KMT2A gene after a whole exome sequencing process, and the patient was diagnosed as WDSTS molecularly.