Branchiooculofacial syndrome (BOFS) is a rare condition characterized by a distinct phenotype of branchial cleft, thick and narrow philtrum resembling a pseudocleft of the upper lip, nasolacrimal duct obstruction, linear skin lesions behind the ears, proliferation of blood vessels in the lower neck, characteristic facies, and premature senility. Affected individuals have malformed ears with posteriorly angulated pinna, thin helix, prominent antihelix, upturned lobules, and auricular pits. The nose is dysplastic, with a wide bridge and indented tip. Ocular abnormalities include microphthalmia or anophthalmia, hypertelorism, coloboma, strabismus, and cataract. Growth retardation and occasional mental retardation is also seen in patients.
The disease is extremely rare, with only 50 cases having been reported until 2004. Treatment is mostly symptomatic and supportive. However, facial deformities, crossed eyes, and obstructed nasal ducts can be corrected by surgery.
BOF syndrome is inherited in an autosomal dominant fashion. It is associated with heterozygous mutations in TFAP2A (Transcription Factor AP-2 Alpha) gene, which functions as a transcription factor and regulates expression of selected genes. Although the exact genetic aetiology of the disorder is not clearly understood, protein encoded by TFAP2A is known to play an important role in the development of eye, face, body wall, limb and neural tube.