As far as we know, SHMS is an autosomal dominant disorder which is frequently caused by a recurrent variation in phosphofurin acidic cluster sorting protein 1 (PACS1) gene on chromosome 11q13 region (Schuurs-Hoeijmakers et al., 2012; Lusk et al., 2020). This evidence concerns the gene PACS1 and Schuurs-Hoeijmakers syndrome.