BOR Syndrome and hearing loss

[DD214_DOC]

Can someone explain to me the etiology of the hearing loss in BOR syndrome, as well as the most common severity of hearing loss? Is it typically treatable with hearing aids and/or cochlear implants?

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[Pir8DeacDoc]

Can someone explain to me the etiology of the hearing loss in BOR syndrome, as well as the most common severity of hearing loss? Is it typically treatable with hearing aids and/or cochlear implants?

That's a pretty broad question and there are a lot of folks on this forum better equipped than me to answer that for you (i.e. otologists). But I'll tell you what I know.

The etiology is autosomal dominant. It is based on abnormal development of the branchial arches. There can be a wide variety of presentations, so your questions are a little hard to answer. The hearing loss can be sensorineural only (inner ear) or mixed (conductive component from external or ossicular abnormalities- stapes fixation, etc). Generally the hearing loss is treatable.

What exactly is the nature of your question, i.e. are you asking for a newly diagnosed friend or family member? the specifics really should be discussed with your local ENT after the history is taken and the examination completed, the above are just general thoughts.

 

[DD214_DOC]

That's a pretty broad question and there are a lot of folks on this forum better equipped than me to answer that for you (i.e. otologists). But I'll tell you what I know.

The etiology is autosomal dominant. It is based on abnormal development of the branchial arches. There can be a wide variety of presentations, so your questions are a little hard to answer. The hearing loss can be sensorineural only (inner ear) or mixed (conductive component from external or ossicular abnormalities- stapes fixation, etc). Generally the hearing loss is treatable.

What exactly is the nature of your question, i.e. are you asking for a newly diagnosed friend or family member? the specifics really should be discussed with your local ENT after the history is taken and the examination completed, the above are just general thoughts.

Thanks. I know a lot about BOR Syndrome, but I didn't really understand what leads to the hearing loss developmentally. My newborn daughter was diagnosed with BOR syndrome (or I guess BO Syndrome since her kidneys are supposedly fine). Unfortunately, it was myself who figured it out and pointed it out to the peds attending prior to discharge, as I had a branchial cyst/fistula as a child that was surgically repaired but no hearing problems. Don't know about my kidneys, since nobody ever bothered to look.

At any rate, we've been seen by ENT, Dev Peds, Genetics, etc. The ENT seemed to make light of the hearing loss, indicating that it was pretty treatable. My concern was what actually causes it -- such as whether the equipment is even there for hearing -- and how treatable it actually is. I forgot all of medicine once I hit PGY2.

 

[Pir8DeacDoc]

Thanks. I know a lot about BOR Syndrome, but I didn't really understand what leads to the hearing loss developmentally. My newborn daughter was diagnosed with BOR syndrome (or I guess BO Syndrome since her kidneys are supposedly fine). Unfortunately, it was myself who figured it out and pointed it out to the peds attending prior to discharge, as I had a branchial cyst/fistula as a child that was surgically repaired but no hearing problems. Don't know about my kidneys, since nobody ever bothered to look.

At any rate, we've been seen by ENT, Dev Peds, Genetics, etc. The ENT seemed to make light of the hearing loss, indicating that it was pretty treatable. My concern was what actually causes it -- such as whether the equipment is even there for hearing -- and how treatable it actually is. I forgot all of medicine once I hit PGY2.

The hearing loss can be inner ear - which can be related to a Mondini deformity (misshapen cochlea) or it can also be conductive in nature due to abnormalities of the external ear or problems with the ossicles (I think stapes fixation is the most common problem). No matter the type or cause of hearing loss, there are relatively few contraindications to amplification or cochlear implants. Your daughter should have routine surveillance with audiograms and close surveillance to make sure she is meeting milestones, etc. It sounds like her case is rather mild, which is good news.

Good luck

 

[smq123]

Sorry to hear about your daughter, Hooah. Hope your ENT can answer your questions about your daughter's individual case more in person.

Closing.