Branchio-oculo-facial syndrome

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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 Data version April 2024

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Branchio-oculo-facial syndrome?

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