Agnathia/otocephaly complex (OMIM #202650) is a rare, congenital malformation characterized by multiple malformations involving anatomic structures originating from the first pharyngeal arch as a consequence of failed mesenchymal migration of the maxillary prominence and atrophy of the development of the mandibular prominences [1]. Features of agnathia/otocephaly complex are absence or hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior midline fusion of the ears (melotia, synotia) [2]. An incidence of less than 1 in 70,000 births has been estimated [3]. The complex has been linked with a heterozygous mutation of the PRRX1 gene on chromosome 1q24. Genotype/phenotype heterogeneity is possible, and the disease may be inherited in either autosomal recessive or autosomal dominant patterns. In addition, the environmental teratogens have been associated [2, 4]. Recently, it has been demonstrated that perturbations in the PRRX1 and OTX2 genes may alter DNA signaling pathways, suggesting a role in palatal development [2, 5, 6].