The topic Branchio-Otorenal Dysplasia you are seeking is a synonym, or alternative name, or is closely related to the medical condition Branchiootorenal/Branchiootic Syndrome.

Quick Summary:

• Branchiootorenal/Branchiootic Syndrome (BOR/BO Syndrome) is a congenital genetic disorder that falls under the category of Branchiootorenal Spectrum Disorders
• The Branchiootorenal Syndrome is named based on the tissues and organs affected. “Branchio” refers to the second branchial arch, which gives rise to the front and sides of the neck during fetal development; “oto” refers to the ears; and “renal” refers to the kidneys. When the kidneys are not involved, the syndrome is termed Branchiootic Syndrome
• In about 90% of the affected individuals the inherited form of Branchiootorenal/Branchiootic Syndrome is observed, implying that a family history of the condition is a major risk factor for developing the same
• Mutations in the EYA1, SIX1, and SIX5 genes are associated with development of Branchiootorenal/Branchiootic Syndrome. These 3 genes code for proteins that interact with one another to bring about normal embryonic development
• A mutation in any one of the aforementioned genes can lead to formation of aberrant protein, which does not allow for normal protein-protein interactions to occur
• Some of the symptoms of Branchiootorenal/Branchiootic Syndrome can involve the neck, ear and kidneys. Lumps, masses, pits, and holes may be found in and on the neck and other adjoining regions
• Middle ear and inner ear abnormalities associated with Branchiootorenal/Branchiootic Syndrome can lead to partial or complete deafness. Furthermore, there can be structural and functional abnormalities in the kidneys as a result of the condition
• A diagnosis of Branchiootorenal/Branchiootic Syndrome can be made prenatally through fetal ultrasound and genetic testing of the fetal cells. A diagnosis after birth may require a physical examination, evaluation of family history, and assessment for characteristic symptoms
• There is presently no cure for Branchiootorenal/Branchiootic Syndrome; however, the individual symptoms may be treated in order to offer some measure of comfort to the affected individuals
• The cysts and holes (fistulae) of the neck may be surgically corrected. Ear abnormalities can be surgically improved along with hearing aids and special education for the hearing impaired. Further medication and surgical procedures may be required to treat the kidney issues
• Life-long monitoring of the symptoms may be required in individuals with the disorder. Both the life-expectancy and intelligence in affected individuals are reported to be normal and the prognosis of Branchiootorenal/Branchiootic Syndrome is typically good

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