Branchiooculofacial syndromeQ18.8
Synonym(s)
BOFS; Branchio-oculo-facial syndrome; Lee-Root-Fenske Syndrome; MIM 113620
DefinitionThis section has been translated automatically.
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.
Occurrence/EpidemiologyThis section has been translated automatically.
Prevalence: <1 / 1 000 000
EtiopathogenesisThis section has been translated automatically.
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.
Progression/forecastThis section has been translated automatically.
Normal life expectancy
LiteratureThis section has been translated automatically.
- Milunsky JM et al (2008) TFAP2A mutations result in branchio-oculo-facial syndrome. At J Hum Genet 82:1171-1177.
- 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.