Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses.
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Epidemiology
More than 80 cases have been reported in the global literature since its first description as a distinct entity in 1987 1.
Clinical presentation
Like many syndromes of this kind, the spectrum of phenotypic variability is fairly marked. Nevertheless, frequently observed features include:
Ocular anomalies
Craniofacial dysmorphism
- cleft lip and/or palate
- pseudocleft of the upper lip: highly specific for this syndrome
- wide nasal bridge
- high forehead
- early greying of the hair
Branchial sinuses
- skin clefts
- scarring of the skin
Renal anomalies
- agenesis of the kidneys
- dysplastic/hypoplastic kidneys
Pathology
Phenotypically it bears similarities to branchio-oto-renal syndrome and branchio-otic syndrome, and at one time the three syndromes were felt to be allelic variants of an identical underlying condition, however, it is now known that the genotypes are different and the three conditions are considered to be distinct entities 1,3.
Genetics
The gene responsible for the branchio-oculo-facial syndrome is TFAP2A, which encodes for activating enhancer-binding protein 2 alpha (AP-2α), a transcription factor important in the development of several major craniofacial structures, with a crucial role in normal embryogenesis of the eyes. Multiple mutations of TFAP2A have now been described 1,4.
History and etymology
Branchio-oculo-facial syndrome was first described in 1987 by Fujimoto and colleagues in a small series of three cases 2.
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