A single case of a de novo nonsense mutation of SATB2 has been described in an individual with cleft palate, osteoporosis, profound mental retardation, epilepsy, a jovial personality, and craniofacial dysmorphism including gum hyperplasia, mandibular hypoplasia, and anterior-pointing incisors [7]. The gene discussed is SATB2; the disease is cleft palate.