$Unique_ID{BRK03539} $Pretitle{} $Title{Branchio-Oculo-Facial Syndrome} $Subject{Branchio-Oculo-Facial Syndrome Branchiooculofacial Syndrome BOFS Imperforate Nasolacrimal Duct, and Premature Aging Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome Oral-Facial-Digital Syndrome Cleft Lip and Cleft Palate Cerebro-Costo-Mandibular Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome} $Volume{} $Log{} Copyright (C) 1990 National Organization for Rare Disorders, Inc. 714: Branchio-Oculo-Facial Syndrome ** IMPORTANT ** It is possible that the main title of the article (Branchio-Oculo-Facial Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Branchiooculofacial Syndrome BOFS Imperforate Nasolacrimal Duct, and Premature Aging Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Oral-Facial-Digital Syndrome Cleft Lip and Cleft Palate Cerebro-Costo-Mandibular Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome 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-Oculo-Facial Syndrome is a very rare genetic disorder. Major symptoms may include abnormal sinuses, growth retardation, premature aging and an unusual facial appearance. Symptoms Branchio-Oculo-Facial Syndrome is characterized by low birth weight and slowed growth after birth, there is clefting of the sinuses on both sides of the face, crossed eyes, obstructed ducts in the nose, a broad nasal bridge, protruding upper lip, and a fish-like mouth. There may also be premature aging and very early graying of the hair. The ears of persons with Branchio- Oculo-Facial Syndrome may be malformed and have skin lesions behind them. Other symptoms may include pits in the skin of the ears and lips, a highly arched palate, tooth abnormalities, and cysts under the skin of the scalp. This disorder does not affect intelligence. Causes Branchio-Oculo-Facial Syndrome is transmitted through autosomal dominant genes. In most cases at least one parent has a deformity of the lip or mouth, and premature graying of the hair. 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 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-Oculo-Facial Syndrome is a very rare disorder affecting males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Branchio- Oculo-Facial Syndrome. Comparisons may be useful for a differential diagnosis: Oral-Facial-Digital Syndrome (OFD) is a genetic disorder which includes many neuromuscular disturbances, congenital malformations such as cleft palate, facial deformities, malformations of the hands and feet, shortened limbs and various degrees of mental retardation. (For more information on this disorder, choose "OFD" as your search term in the Rare Disease Database). Cleft Lip and Cleft Palate are among the most common congenital malformations. Clefts of the lip or palate result when the development of the face or mouth in an embryo is incomplete. Children born with this condition have an opening in their upper lip or the roof of the mouth. The defect ranges from a slight notch-like deformity to complete clefts of the lip and palate. Symptoms may include flattened nose and splayed lips, nasal quality voice, speech defects, deformed maxillary arch and an excessive number or absence of teeth. (For more information on this disorder, choose "Cleft Lip" as your search term in the Rare Disease Database). Cerebro-Costo-Mandibular Syndrome is a rare genetic disorder characterized by an unusually small jaw (micrognathia), abnormalities of the palate and multiple rib defects. Mild to moderate mental retardation may also occur. (For more information on this disorder, choose "Cerebro-C" as your search term in the Rare Disease Database). Cerebro-Oculo-Facio-Skeletal Syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by reduced amounts of white brain matter with gray mottling, lowered muscle tone and diminished or absent reflexes. Abnormalities of the skull, face, eyes, limbs and other parts of the body may also occur. (For more information on this disorder, choose "Cerebro-Oculo-Facio-Skeletal" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Branchio-Oculo-Facial Syndrome is reconstructive surgery to repair facial deformities and obstructed nasal ducts. Crossed eyes may also be corrected by surgery. Genetic counseling is recommend for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through July 1990. 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-Oculo-Facial Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 (800) 535-3643 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Foundation for Facial Reconstruction 550 First Avenue New York, NY 11016 (212) 340-6656 National Cleft Palate Association 1218 Grandview Ave. Pittsburgh, PA 15211 1-800-23CLEFT 1-800-24CLEFT For genetic information and genetic counseling referrals, please contact: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 112.