Branchio-Oto-Renal Syndrome

Today, we had Lexi's ENT appointment to discuss the skin tag by her left ear. The doctor was MUCH more informed than the NP at the pediatrician's office, thank God!

They would like to run tests to see if Lexi has Branchio-Oto-Renal Syndrome (BOR). I've been doing some research since we left the doctor's office to figure out how to best describe it. I'm combining the information I found with things the doctor told us.

Basically, it's a malformation of the outer, middle, or inner ear associated with hearing problems, branchial cysts, and renal malformations. About 90% of people with BOR have some form of hearing loss (that has a wide range of severity, too) and those who have kidney problems range from controling it with medication to needing transplants or dialysis and/or dying from End-Stage Renal Disease.

It's a genetic condition and is autosomal dominant - 50% chance with each pregnancy of having an affected child and and 50% chance of having an unaffected child. About 90% of people inherit the condition from their parents. While neither of us has BOR, George and I each have an aunt with a skin tag, though nothing was ever said about kidney problems or hearing loss in either of them. Because neither of us have it and we have a family history of symptoms (skin tags), we are being referred to have genetic testing done, as well.

The skin tag is Lexi's malformation (only 13% of people have these, believe it or not). Because the ears and the kidneys are forming at the same time as a fetus, THAT is how the skin tag and the kidneys are related. It's also why we had the renal ultrasound last month. The tech found that the left kidney was holding on to a little bit of urine. We were referred to the urology specialist at Vanderbilt University to talk about the kidneys and possible problems with UTI's.

The doctor looked in Lexi's ears and said she could see the ear drums and that things looked good. They have scheduled a hearing test called an ABR to see how Lexi processes sound (May 12). She recommended that if we are going to have the skin tag removed cosmetically that we wait until Lexi is around 4. She doesn't like to recommend it earlier because of risks with anesthesia.

Anyway, the prognosis for BOR is good - normal intelligence and life expectancy with proper care and management. For now, they are not diagnosing her with it or labeling her with it. We'll wait for all the tests to come back before stressing about it. Her newborn hearing test was fine, so I'll be interested in watching the ABR next month.

I have to say, it was nice to FINALLY understand why the skin tag and the kidneys are related! I'm really interested in researching this since it's something I haven't heard of before - I feel like I'm on House.