BOR syndrome

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Synonyms: Branchiootorenal spectrum disorder | Branchiootorenal syndrome | Melnick-Fraser syndrome

A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts fistulae cysts) malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits conductive or sensorineural hearing impairment) and renal malformations (urinary tree malformation renal hypoplasia or agenesis renal dysplasia renal cysts).

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 May 2024

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BOR syndrome?

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