WES revealed compound heterozygous variants in <i>DCHS1</i> (rs145099391:G > A, p.P197L & rs753548138:G > A, <i>p</i>.T2334 M) [RefSeq NM_003737.3], diagnostic of Van Maldergem syndrome (VMS-1). The gene discussed is DCHS1; the disease is van Maldergem syndrome.