Branchio Oto Renal Syndrome

Branchio Oto Renal Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Branchio Oto Renal Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • BOR Syndrome
  • Branchio-Oto-Renal Dysplasia
  • Branchiootic Syndrome
  • Melnick-Fraser Syndrome

Disorder Subdivisions

  • None

General Discussion

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.

Symptoms

Most people 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 profound, and can differ between the two ears. The deafness can be stable or progressive. 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 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.



Many people with branchio-oto-renal syndrome do not experience kidney problems. Among those who do, the 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 interfering with the normal flow of tears; 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 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.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Affected Populations

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.

Standard Therapies

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 (nephrologist) should closely monitor any renal impairment. Surgical repair may be undertaken for correctable defects. Severe kidney problems may warrant dialysis or kidney transplantation.



Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



The National Institute on Deafness and Other Communication Disorders (NIDCD) of the National Institutes of Health is sponsoring a study involving clinical and genetic analysis of inner ear malformations. This study will try to identify and understand the genetic factors that may lead to inner ear malformations that cause hearing loss. For information, contact the NIH Patient Recruitment and Public Liaison Office at (800) 411-1222 or prpl@mail.cc.nih.gov (TTY: 866-411-1010).



Boys Town National Research Hospital in Omaha, NB, maintains a Research Registry for Hereditary Hearing Loss. For information about current studies, visit that institution's Web site at www.boystownhospital.org or call (800) 835-1468 (voice or TDD).

References

TEXTBOOKS

Gorlin RJ, Cohen MM Jr, Levin LS, eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990:657-59.



Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:244-45.



REVIEW ARTICLES

Rodriguez Soriano J. Branchio-oto-renal syndrome. J Nephrol. 203;16:603-05.



Nance WE. The genetics of deafness. Ment Retard Dev Disabil Res Rev. 2003;9:109-19.



Hone SW, Smith RJ. Genetics of hearing impairment. Semin Neonatol. 2001;6:531-41.



Kalatzis V, Petit C. Branchio-Oto-Renal Syndrome. Adv Otorhinolaryngol. 2000;56:39-44.



JOURNAL ARTICLES

Schiff M, Parchoux B, Cochat P. Ear and kidney malformations with renal failure in an infant: what is the link? Nephrol Dial Transplant. 2003;18:1673-74.



Kemperman MH, Stinckens C, Kumar S, et al. The branchio-oto-renal syndrome. Adv Otorhinolaryngol. 2002;61:192-200.



Kemperman MH, Koch SM, Joosten FB, et al. Inner ear anomalies are frequent but non-obligatory features of the branchio-oto-renal syndrome. Arch Otolaryngol Head Neck surg. 2002;128:1033-38.



Trummer T, Muller D, Schultze A, et al. Branchio-oculo-facial syndrome and Branchio-otic/ branchio-oto-renal syndromes are distinct entities. J Med Genet. 2002;39:71-73.



Bellini C, Piaggio G, Massocco D, et al. Branchio-Oto-renal syndrome: a report on nine families. Am J Kidney Dis. 2001;37:505-09.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Branchiootorenal Dysplasia. Entry Number; 113650: Last Edit Date; 3/30/2004.



Smith RJH. Branchiootorenal Syndrome. GeneReviews. Last Update: 30 October 2003. 14pp.

www.geneclinics.org



Branchio-Oto-Renal Syndrome. The GAPS INDEX. Genetic Information and Patient Services, Inc. (GAPS). nd. 9pp.

www.icomm.ca/geneinfo/bor.htm



Branchio-oto-renal syndrome (BOR). Foundation for Faces of Children. nd. 1p.

www.facesofchildren.org/cgi-bin/jump.cgi?id=bor



Branchio-Oto-Renal (BOR) Syndrome. Boys Town Research Registry for Hereditary Hearing Loss. Department of Hard of Hearing Access Program (DHHAP)-Technical Assistance Center. nd. 2pp.

www.boystown.org/deafgene_registry/



Branchio-Oto-Renal (BOR) Syndrome. Genetics and Deafness. Boys Town National Research Hospital. nd. 2pp.

www.boystownhospital.org/parents/info/genetics/bor.asp



Earpits deafness syndrome. Amersham Health. The Encyclopedia of Medical Imaging Volume VI:2. nd. 1p.

www.amershamhealth.com/medcyclopaedia/medicalVolume%20VI%202/earpits

Resources

American Kidney Fund, Inc.

11921 Rockville Pike

Suite 300

Rockville, MD 20852

USA

Tel: (800)638-8299

Email: helpline@kidneyfund.org

Internet: http://www.kidneyfund.org



National Kidney Foundation

30 East 33rd Street

New York, NY 10016

Tel: (212)889-2210

Fax: (212)689-9261

Tel: (800)622-9010

Email: info@kidney.org

Internet: http://www.kidney.org



American Society for Deaf Children

800 Florida Avenue NE

2047

Washington, DC 20002-3695

Tel: (866)895-4206

Fax: (410)795-0965

Tel: (800)942-2732

Email: asdc@deafchildren.org

Internet: http://www.deafchildren.org



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Atresia/Microtia Online E-mail Support Group

Email: AtresiaMicrotia-owner@yahoogroups.com

Internet: http://health.groups.yahoo.com/group/AtresiaMicrotia/



Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144

Email: info@letthemhear.org

Internet: http://www.letthemhear.org



American Academy of Audiology

11730 Plaza America Drive, Suite 300

Reston, VA 20190

Tel: (703)790-8466

Fax: (703)790-8631

Tel: (800)222-2336

Email: infoaud@audiology.org

Internet: http://www.audiology.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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