Branchiootorenal syndrome

Overview

What is branchiootorenal syndrome?

Branchiootorenal syndrome or BOR syndrome is a rare genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Because of a change in one of at least three different genes, people with BOR syndrome lack a protein. These proteins are vital to the health and development of the body. If these proteins are missing or ineffective, it will lead to lots of different problems in the body, particularly in the "branchio", which refers to the second branchial arch, a structure in a fetus that develops into the tissue of the front and side of the neck; "oto", which refers to the ears, and "renal", which refers to the kidneys. The signs and symptoms can vary significantly among people with this disorder, including among family members. BOR syndrome causes hearing loss, malformations of the ears, tiny holes in the lower part of the neck (branchial fistula), small growths or masses on the neck (branchial clefts), and kidney problems ranging from underdeveloped kidneys, progressive problems with kidney function, and sometimes missing kidneys. BOR syndrome is caused by alterations (mutations) in the EYA1, SIX1, or SIX5 gene. Some people do not have an alteration in any of these three genes. They may have the disorder because of a change in a different gene that doctors have not yet identified.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/branchiootorenal-syndrome/overview/446 • DATE UPDATED: 2019-07-08

References

Branchiootorenal/branchiootic syndrome. Genetics Home Reference website. http://ghr.nlm.nih.gov/condition/branchiootorenal-syndrome

Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1380/

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