What Is BOR Syndrome?:
Bor Syndrome is also known as branchio-oto-renal syndrome. It is due to a mutation of a gene on chromosome 8, and it involves hearing loss
, kidney problems, misshapened ears, and neck cysts. The outer ear can be cupped, and there can be small holes (ear pits) on the ear or outside of the ear, or skin tags near the ear. The "branchio" part of the name refers to the branchial arches, a part of the head in a fetus that becomes the outer and middle ear, neck, and lower part of the face.
Children with BOR Syndrome:
Children born with BOR syndrome may not demonstrate all of the symptoms. If they have hearing loss, it will be either stable (no change) or progressive, ranging from mild to profound hearing loss. Even if a child with BOR syndrome does not have all the symptoms, he'll most likely still have hearing loss -- the most common symptom in people with this concern.
Frequency of BOR Syndrome:
BOR syndrome occurs in one in every 40,000 births. A child with BOR syndrome has a 50% chance of passing it on to his or her children.
Treating BOR Syndrome:
Branchio-Oto-Renal (BOR) Syndrome. Boys Town National Research Hospital. Accessed October 18, 2009. http://www.boystownhospital.org/hearing/info/genetics/syndromes/bor.asp
Orphanet: BOR Syndrome. Accesed October 15, 2009. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=107.0
A family with the branchio-oto-renal syndrome: clinical and genetic correlations.
Nephrology Dialysis Transplantation. 2002 Jun;17(6):1014-8. Accessed October 18, 2009. Available free at http://ndt.oxfordjournals.org/. Has illustrations.