Here, we report that some patients with TCF20 mutations may present phenotypic features reminiscent of SMS such as craniofacial abnormalities which include brachycephaly, tented upper lips, midface hypoplasia, neurological disturbance (seizure, ataxia, abnormal gait), failure to thrive, food-seeking behaviors, and sleep disturbance. This evidence concerns the gene TCF20 and Smith-Magenis syndrome.