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ENBranchiooculofacial Syndrome (BOFS)
Alias:
Branchio-Oculo-Facial Syndrome
Bofs
Bof Syndrome
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
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Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to lacrimal duct obstruction and microphthalmia. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways/superpathways are Ciliary landscape and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include thymus and skin, and related phenotypes are everted lower lip vermilion and atypical scarring of skin
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MALACARDS
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