Branchio oculo facial syndrome
Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. In people with branchio-oculo-facial syndrome , the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels hemangiomatous. In a small number of individuals, tissue from a gland called the thymus is abnormally located on the skin of the neck dermal thymus.
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Rare Disease Database
Branchio Oculo Facial Syndrome - NORD (National Organization for Rare Disorders)
Alternative titles; symbols. Although anomalies of the external and middle ear frequently cause conductive hearing loss in BOFS, severe to profound sensorineural hearing loss due to inner ear anomalies has rarely been reported summary by Tekin et al. See also chromosome 6pter-p24 deletion syndrome for a similar phenotype. Lee et al. Graying of the mother's hair occurred at age Intelligence was normal.
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Branchio-oculo-facial syndrome BOFS is a rare genetic disorder with defects of the head and neck that are apparent at birth congenital and usually diagnosed in childhood. As of , fewer than cases have been reported in the medical literature, although additional patients are probably followed world-wide. The diagnosis of BOFS is based on recognition of the distinctive craniofacial features.
Skip to search form Skip to main content. Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. Titheradge and Chirag Patel and Nicola K. Titheradge , Chirag Patel , Nicola K.
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