Branchiooculofacial syndrome Q18.8

An autosomal dominant inherited malformation syndrome with:

• short stature,
• incomplete closure of the second gill arches
• atrophic hemangiomatous skin changes of the lateral parts of the neck
• biliaterally closed lacrimal ducts with recurrent dacrocystitis,
• Facial dysmorphia.
• Eye abnormalities

• Mostly normal intelligence

• In early adulthood early skin wrinkles and greying of the hair.

• Malformations of the kidneys are rarer.

Prevalence: <1 / 1 000 000

mutation in the TFAP2A gene. This gene is important because it provides the blueprint for the arrangement of 437 amino acids that form the protein transcription factor known as AP-2 alpha.

Normal life expectancy

1. Milunsky JM et al (2008) TFAP2A mutations result in branchio-oculo-facial syndrome. At J Hum Genet 82:1171-1177.
2. Tekin M et. al. (2009) A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. Am J Med Genet A 149A: 427-430.