Branchiootorenal Syndrome Overview
Learn About Branchiootorenal Syndrome
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).
Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 gene mutations are a much less common cause of the disorder. SIX5 gene mutations have been found in a small number of people with BOR syndrome, although researchers question whether mutations in this gene cause the condition. Some affected individuals originally reported to have SIX5 gene mutations were later found to have EYA1 gene mutations as well, and researchers suspect that the EYA1 gene mutations may be the actual cause of the condition in these people.
Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people.
BOR/BO syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Columbia St Marys Hospital Milwaukee Inc
Michael Keefe is a Hematologist Oncology specialist and a Hematologist in Milwaukee, Wisconsin. Dr. Keefe and is rated as an Advanced provider by MediFind in the treatment of Branchiootorenal Syndrome. His top areas of expertise are Thrombocytopenia, Unicentric Castleman Disease (UCD), Castleman Disease, and Multicentric Castleman Disease (MCD). Dr. Keefe is currently accepting new patients.
The Medical College Of Wisconsin Inc
Peter Langenstroer is an Urologist in Milwaukee, Wisconsin. Dr. Langenstroer and is rated as an Advanced provider by MediFind in the treatment of Branchiootorenal Syndrome. His top areas of expertise are Renal Cell Carcinoma (RCC), Ureterocele, Wilms Tumor, Nephrectomy, and Reconstructive Urology Surgery. Dr. Langenstroer is currently accepting new patients.
The Medical College Of Wisconsin Inc
Karolyn Wanat is a Dermatologist in Wauwatosa, Wisconsin. Dr. Wanat and is rated as an Advanced provider by MediFind in the treatment of Branchiootorenal Syndrome. Her top areas of expertise are Syringoma, Acute Febrile Neutrophilic Dermatosis, Calciphylaxis, and Calcinosis. Dr. Wanat is currently accepting new patients.
Published Date: March 01, 2016
Published By: National Institutes of Health