Branchio-oto-renal syndrome

Branchio-oto-renal syndrome
Branchio-oto-renal syndrome has an autosomal dominant pattern of inheritance
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.0
OMIM	113650
DiseasesDB	32599
MeSH	D019280
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Branchio-oto-renal syndrome (BOR), also known as branchiootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome.

The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck.

The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5 (approximately 40 percent of those born with this condition have a mutation in the EYA1 gene).

The genetics of branchio-oto-renal syndrome indicate it is inherited in an autosomal dominant manner, and results from a mutation in the EYA1 gene. Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. This gene is involved in many facets of embryonic development and is important in the normal formation of many organs and tissues, including the ears, and kidneys before birth.

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