$Unique_ID{BRK03540} $Pretitle{} $Title{Branchio-Oto-Renal Syndrome} $Subject{Branchio-Oto-Renal Syndrome BOR Syndrome Branchiootic Syndrome Branchio-oto-renal Dysplasia Melnick-Fraser Syndrome Branchio-Oculo-Facial Syndrome Branchio-Oto-Ureteral Syndrome Deafness-Malformed Low-Set Ears} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 881: Branchio-Oto-Renal Syndrome ** IMPORTANT ** It is possible that the main title of the article (Branchio-Oto-Renal Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms BOR Syndrome Branchiootic Syndrome Branchio-oto-renal Dysplasia Melnick-Fraser Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Branchio-Oculo-Facial Syndrome Branchio-Oto-Ureteral Syndrome Deafness-Malformed, Low-Set Ears General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Branchio-Oto-Renal Syndrome is a rare disorder inherited through an autosomal dominant 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 abnormal development of the kidneys. Symptoms The majority of patients with Branchio-Oto-Renal Syndrome have some type of hearing loss. The hearing loss may be due to nerve damage (sensory), blockage of sound waves (conductive), or both. The degree of hearing loss varies from mild to severe. Other abnormalities related to the ear may be: pits or outgrowths of cartilage (tags) in front of the outer ear; a cupped or small outer ear; and/or a narrow or upward slanted outer ear canal. An inborn, abnormal passage from the throat to the outside surface of the neck (branchial fistula), and/or an opening, cyst, or mass in the tonsil area is often present. Kidney abnormalities are found in approximately 66% of the patients with Branchio-Oto-Renal Syndrome. These abnormalities range from mild to very severe. In milder cases, the kidney may be unusually shaped. In more severe cases there may be duplication of the collecting system of the kidneys and/or absence or failure of one or both of the kidneys to form. Other abnormalities that have been found in association with Branchio- Oto-Renal Syndrome are: narrowing of the tear duct in the eyes; a long narrow face; cleft palate; paralysis of certain muscles in the face; and/or a deep overbite. Causes Branchio-Oto-Renal Syndrome is inherited through an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) Affected Population 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. The occurrence of BOR Syndrome is approximately 2 percent of the profoundly deaf. Related Disorders Symptoms of the following disorders can be similar to those of Branchio-Oto- Renal Syndrome. Comparisons may be useful for a differential diagnosis: Branchio-Oculo-Facial Syndrome is a rare disorder inherited through an autosomal dominant trait. Major symptoms may include abnormal sinuses, growth retardation, premature aging and an unusual facial appearance. Other features of this disorder may be: low birth weight; premature aging and graying of the hair; a highly arched palate; abnormalities of the teeth; and/or cysts under the skin of the scalp. (For more information on this disorder, choose "Branchio-Oculo-Facial " as your search term in the Rare Disease Database). Branchio-Oto-Ureteral Syndrome is a rare disorder that is thought to be inherited through an autosomal dominant trait with variable expression. The main characteristics are ear and kidney abnormalities. The outer ear may have pits, outgrowths of tissue (tags), be cone shaped or smaller than normal. The tubes that carry urine from the kidney to the bladder may be out of position or duplicated, and the kidney collecting system may be split in two. Deafness-Malformed, Low-Set Ears is a rare disorder that is inherited through an autosomal recessive trait. Malformed external ears and hearing loss caused by blocked sound waves (conductive hearing loss) are the two major symptoms. All males with this disorder have failure of one or both testes to descend normally (cryptorchidism). Approximately half of the patients with Deafness-Malformed, Low-Set Ears also have mental retardation. Therapies: Standard Patients with Branchio-Oto-Renal Syndrome may benefit from hearing aids. When structural defects of the ear are present, surgery may be beneficial. Severe kidney problems may warrant surgery or kidney transplantation. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their cause is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Branchio-Oto-Renal Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Society for Deaf Children 814 Thayer Avenue Silver Springs, MD 20910 (301) 585-5400 Voice/TTY National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) NIH/National Institute of Diabetes and Digestive and Kidney Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-3585 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 147. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. P. 206. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 243-44. THE BRANCHIO-OTO-RENAL SYNDROME (REPORT OF TWO FAMILY GROUPS): M Raspino. et al.; J Laryngol Otol (February 1988, issue 102(2)). Pp. 138-41. THE BRANCHIO-OTO-RENAL (BOR) SYNDROME: REPORT OF BILATERAL RENAL AGENESIS IN THREE SIBS: R Carmi, et al.; Am J Med Genet (April 1983, issue 14(4)). Pp. 625-7. FREQUENCY OF THE BRANCHIO-OTO-RENAL (BOR) SYNDROME IN CHILDREN WITH PROFOUND HEARING LOSS: F.C. Fraser, et al.; Am J Med Genet (1980, issue 7(3)). Pp. 341-9. GENETIC ASPECTS OF THE BOR SYNDROME -- BRANCHIAL FISTULAS, EAR PITS, HEARING LOSS AND RENAL ANOMALIES: Am J Med (1978, issue 2(3)). Pp. 241-52.