Branchio Oto Renal Syndrome

Branchio-oto-renal syndrome Description, Causes and Risk Factors: Branchio-oto-renal (BOR) syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by pits or ear tags in front of the outer ear, abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, hearing loss and/or kidney (renal) abnormalities. Branchio-oto-renal syndrome is inherited through an autosomal dominant disorder. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. The BOR gene is located on the long arm of chromosome 8 (8q13.3). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 8q13.3" refers to the area between bands 13 and 14 on the long arm of chromosome 8. The numbered bands specify the location of the thousands of genes that are present on each chromosome. Branchio-oto-renal syndrome affects males and females in equal numbers. It is estimated that 1 in 40,000 people are afflicted with this disorder. BOR syndrome is found in approximately 2 to 3 percent of children with profound deafness. Symptoms:Branchio-oto-renal syndrome Individuals with BOR may have underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears (preauricular pits), extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible. Individuals can have mild to profound hearing loss, which can either be sensorineural, conductive, or mixed. People with BOR may also have cysts or fistulae along the sides of their neck corresponding to the location of the embryologic branchial clefts. Diagnosis: The diagnosis is made when at least two of five features (branchial defects, hearing loss, pits or tags in front of the outer ear (preauricular pits), abnormalities of the part of the ear that projects from the head (pinna), and renal malformations are present in an individual with two or more affected family members, or three features are present in an individual with no affected family members. Evaluation of hearing function (audiologic assessment), and imaging (CT or computerized tomography) of the temporal bone to identify the middle and inner ear defects, should be performed. Renal abnormality (anomaly) is investigated by urinalysis, renal function tests, and imaging studies such as renal ultrasonography and CT. Treatment: The child with hearing impairment should undergo appropriate rehabilitation measures with annual hearing testing (audiometry). Medical attention should be sought promptly for any episode of inflammation of the middle ear (otitis media). Patients with branchio-oto-renal syndrome may benefit from hearing aids. When structural defects of the ear are present, surgery may be beneficial. Branchial cleft deformities have the potential to become easily infected and may require surgical treatment. Also, a physician specializing in kidney problems (nephrologists) should closely monitor any renal impairment. Surgical repair may be undertaken for correctable defects. Severe kidney problems may warrant dialysis or kidney transplantation. NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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