Branchiooculofacial syndrome (BOFS; MIM 113620) is an autosomal dominant developmental disorder characterized by cutaneous defects in the cervical or infra- and/or supra-auricular region, lacrimal duct obstruction, and ocular anomalies such as microphthalmia or anophthalmia, coloboma, ptosis and cataract. Craniofacial features include cleft or pseudocleft lip/palate, dolichocephaly, malformed pinnae, low set ears and broad nasal tip. Additional findings may include inner ear malformations, temporal bone anomalies, conductive, mixed or sensorineural hearing loss, ectopic dermal thymus and various ectodermal anomalies. Growth deficiency, renal anomalies and mild mental retardation are less frequent findings. Intrafamilial clinical variability may be marked. To date, genetic heterogeneity has not been reported. BOFS is caused by mutations in the TFAP2A gene. It codes for transcription factor AP-2-alpha protein, which is a sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes.