Branchio-oto-renal Syndrome (BOR)

« Back to Glossary Index

This genetic disorder includes malformations of the ear and cysts and sinus tracts in and near the neck, hearing loss, and malformations of the kidney. There are varying combinations of these anomalies in differing degrees. Malformations of the ears include cupping of the outer ear, very small holes in front of or on the outer ear, tags of skin in front of the ear, and cysts on the neck. Kidneys can be smaller than usual or have a malformation that does not interfere with function or cause any problems. If the malformations are severe, they may predispose the child to kidney disease. Most people with BOR syndrome do not experience any type of kidney problem.  The disorder is most commonly caused by mutations in the EYA1 gene, which is likely to be inherited from an affected parent.

« Back to Glossary Index
2017-12-10T20:26:21+00:00