Branchiootic syndrome


What is branchiootic syndrome?

Branchiootic 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 branchiootic 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; and "otic", which refers to the ears. The signs and symptoms can vary significantly among people with this disorder, including among family members. Branchiootic syndrome causes hearing loss, malformations of the ears, tiny holes in the lower part of the neck (branchial fistula), and small growths or masses on the neck (branchial clefts). BOR syndrome is caused by alterations (mutations) in the EYA1, SIX1 or SIX5 genes. Some people do not have an alteration in either of these genes. They may have the disorder because of a change in a different gene that doctors have not yet identified.

Branchiootic syndrome is often grouped with branchiootorenal (BOR) syndrome. The symptoms are the same, except people with BOR syndrome may have kidney problems. These disorders are caused by different changes to the same genes. Sometimes doctors classify them as spectrum of disease called the branchiootorenal spectrum disorders.

Branchiootorenal/branchiootic syndrome. Genetics Home Reference website.

Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews website.

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