Branchio-oto-renal syndrome , is an autosomal dominantgenetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome.
Signs and symptoms
The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears, or further malformation or absence of the outer ear. Malformation or absence of the middleear 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.. In some individuals and families, renal features are completely absent. The disease may then be termed Branchio-oto Syndrome.
Cause
The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5. Many different abnormalities in these genes have been identified.
Mechanism
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.
Diagnosis
Diagnosis of BO syndrome or BOR syndrome is clinical, ie based on observing an appropriate combination of symptoms. Only about half of patients have a detectable genetic abnormality, mostly in the EYA1 gene, SIX1 gene or the SIX5 gene.
Treatment
The treatment of branchio-oto-renal syndrome is done per each affected area. For example, a person with hearing problems should have appropriate supports and prompt attention for any inflammation of the ear. A specialist should observe any kidney problems. Surgical repair may be needed depending on the degree of a defect or problem, whether a transplant or dialysis is needed.
Epidemiology
The epidemiology of branchio-oto-renal syndrome has it with a prevalence of 1/40,000 in Western countries. A 2014 review found 250 such cases in the country of Japan.
