Branchiooculofacial Syndrome

Alternative Names

  • BOF Syndrome
  • BOFS
  • Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
  • Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
  • Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
  • Lee Root Fenske Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

113620

Mode of Inheritance

Autosomal dominant

Gene Map Locus

6p24.3

Description

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.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
113620.1.1LebanonMaleYes Branchial anomaly; Bilateral cleft lip a...NM_001032280.2:c.749C>THeterozygousAutosomal, DominantMegarbane et al. 1998; Milunsky et al. 2011
113620.1.2LebanonFemaleYesNo Branchial anomaly; Coloboma; Abnormal fa...NM_001032280.2:c.749C>THeterozygousAutosomal, DominantMegarbane et al. 1998; Milunsky et al. 2011 Daughter of 113620.1...
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