Branchio-oculo-facial syndrome
Synonyms: BOFS
A rare dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects ophthalmic malformations and facial anomalies. Additional features can be present.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Branchio-oculo-facial syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
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Clinical Trials
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