BOR syndrome
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 April 2024
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BOR syndrome?
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Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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