Branchio-oto-renal syndrome
| Branchio-oto-renal syndrome | |
|---|---|
| Other names | BOR syndrome, Branchiootorenal syndrome |
| Branchio-oto-renal syndrome has an autosomal dominant pattern of inheritance. | |
| Specialty | Medical genetics |
| Symptoms | Ear abnormalities[1] |
| Causes | Mutations in genes, EYA1, SIX1, and SIX5[2] |
| Diagnostic method | Laboratory test results, Physical exam[3] |
| Treatment | Branchial fistula may need surgery[3] |
Branchio-oto-renal syndrome (BOR)[4][5] is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It is also known as Melnick-Fraser syndrome.[2][3]
- ^ Cite error: The named reference
genewas invoked but never defined (see the help page). - ^ a b "Branchiootorenal syndrome". Genetics Home Reference. U.S. National Library of Medicine. 2015-11-23. Archived from the original on 2016-02-29. Retrieved 2015-11-29.
- ^ a b c "Branchiootorenal syndrome | Disease | Overview". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Archived from the original on 2016-07-27. Retrieved 2015-11-29.
- ^ Kumar S (2004). "Branchio-oto-renal Syndrome". In Willems PJ (ed.). Genetic Hearing Loss. New York: Marcel Dekker Inc. doi:10.1201/9780203913062. ISBN 9780203913062. Archived from the original on 2022-11-13. Retrieved 2022-11-13.
- ^ Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ (1997). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing". Genetic Testing. 1 (4): 243–251. doi:10.1089/gte.1997.1.243. PMID 10464653.