Branchio oto renal syndrome is an unusual genetic disorder where people can have a constellation of symptoms involving the airways, kidneys, and ears. A number of genes play a role in the expression of this condition, and it can vary in severity and nature, depending on the genes a patient inherits. Treatment focuses on providing the patient with supportive care, as the underlying genetic issues cannot be fixed. Early diagnosis can provide more treatment options.
The name of this condition references the different areas of the body involved. “Branchio” is part of the airways. In patients with branchio oto renal syndrome, the upper part of the airway may form incorrectly. Patients can have cysts in and on their airways, and may also develop fistulas, abnormal openings between the airway and the surface of the neck. Surgery may be necessary to treat these structural abnormalities.
The “oto” involves the ears. The outer ear may have pits or skin tags, and some patients experience hearing loss or deafness. These are caused by errors in development associated with malformed proteins. Instead of coding for the correct proteins to build the ears, the deleterious genes that cause branchio oto renal syndrome cause the ears to develop abnormally. Often, these physical changes will be clearly visible when the baby is born.
Some patients also have kidney problems, explaining the “renal,” although not all patients experience them. In these patients, branchio oto renal syndrome can be associated with absent or very small kidneys, leading to kidney failure and a cascading series of problems. Dialysis, transplants, and medications can help a patient manage the kidney problems.
As with other genetic conditions, branchio oto renal syndrome is not curable, although gene therapy is a possibility in the future. Gene therapy could potentially allow doctors to turn off harmful genes, allowing healthy genes to express during embryonic development so people do not develop physical problems as a result of the genes they carry.
Patients may experience branchio oto renal syndrome independently or in association with another genetic disorder. Prenatal testing can often reveal the presence of problems. This condition is dominant, meaning that patients only need to inherit one set of the genes involved. People with genetic disorders who are concerned about passing them on to children can meet with genetic counselors to discuss the risks and their options. It is possible a child may inherit a less severe form of the disorder.