As an autosomal dominant inherited disorder, KdVS has proved to be caused by chromosome 17q21.31 deletion or pathogenic mutation of KANSL1 gene in almost all the cases.[4] In this study, whole exon high-throughput sequencing for high-risk neonates was conducted on a child with airway dysplasia and convulsive seizures resulted from unexplained intracranial hemorrhage, with the findings indicating heterozygous variation of KANSL1 gene c.1574_1578del (p.P525Hfs*24) and a subsequent diagnose of KdVS. This evidence concerns the gene KANSL1 and Koolen-de Vries syndrome.