As suspected, the patient was diagnosed with the full spectrum of SHFM1 symptoms, including the EEC syndrome (i.e., bilateral ectrodactyly of hands and feet, enamel and nail hypoplasia, and tendency for tooth decay), hearing loss, and craniofacial anomalies with the characteristics of the 7q21.3 locus, namely, micrognathia and malformation of the ears (i.e., overfolded helix) (Figures 1A–D). This evidence concerns the gene SEM1 and EEC syndrome.