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.

References
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Are there other names for branchiootorenal syndrome?

How common is branchiootorenal syndrome?

What is the usual abbreviation for branchiootorenal syndrome?

Are there other names for branchiootorenal syndrome?

Doctors usually use BOR syndrome when referring to this disorder. BOR is an acronym for (b)ranchio, 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; (o)to, which refers to the ears, and (r)enal, which refers to the kidneys. Sometimes branchiootorenal syndrome is hyphenated: branchio-oto-renal syndrome.

Other names for BOR syndrome are Melnick-Fraser syndrome, which are the last names of two doctors who separately described the disorder in the medical literature in the 1970s. Sometimes the disorder is called branchiootorenal dysplasia. Dysplasia is the medical term for malformation.

The term branchiootic syndrome is used for people who have the symptoms of this disorder without any kidney problems. People with BOR syndrome and branchiootic syndrome have changes in the same genes. Some doctors may use the term branchiootorenal spectrum disorders as an "umbrella" term for all the people with these disorders.

References
How common is branchiootorenal syndrome?

Branchiootorenal (BOR) syndrome is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the amount of new people with a disorder or newly-diagnosed. Two studies of people with symptoms of BOR syndrome placed the prevalence at 1 in 700,000 people in the general population, and 1 in 40,000 in the general population. Most likely the true prevalence is somewhere in between these estimates.

References
  • Smith RJH. Branchiootorenal Spectrum Disorders. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1380/
  • Fraser FC, Sproule JR, Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet. 1980;7:341-349.
What is the usual abbreviation for branchiootorenal syndrome?

The medical abbreviation for branchiootorenal syndrome is BOR syndrome.

References

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