Type 1 (SHFM1) is linked to 7q21.3 (OMIM 183600), SHFM2 is located at Xq26 (OMIM 313350), SHFM3 is associated with duplications at 10q24.3 (OMIM 246560), SHFM4 with heterozygous mutations in TP63 (3q27) (OMIM 605289), SHFM5 with deletions at 2q31 (OMIM 606708), SHFM6 with homozygous or compound heterozygous mutations in WNT10B (OMIM 225300), SHFM/SHFLD3 with duplications at 17p13.3 (BHLH9 gene) (OMIM 612576), and the recently identified EEC syndrome is associated with microdeletions at 19q13.11 or loss-of-function mutations in UBA2 (ubiquitin-like modifier-activating enzyme 2, OMIM 613295). This evidence concerns the gene UBA2 and EEC syndrome.