$Unique_ID{BRK04007} $Pretitle{} $Title{Moebius Syndrome} $Subject{Moebius Syndrome Mobius Syndrome Congenital Facial Diplegia Syndrome Congenital Oculofacial Paralysis Facioscapulohumoral Muscular Dystrophy } $Volume{} $Log{} Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 451: Moebius Syndrome ** IMPORTANT ** It is possible the main title of the article (Moebius Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Mobius Syndrome Congenital Facial Diplegia Syndrome Congenital Oculofacial Paralysis Information on the following disease can be found in the Related Disorders section of this report: Facioscapulohumoral Muscular Dystrophy 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. Moebius Syndrome is a hereditary disorder predominately characterized by paralysis of the face. Facial nerve development is absent or diminished causing abnormalities of the facial muscles and jaw. Other central nervous system dysfunctions may cause abnormalities in the hands, hips, and feet. This disorder is thought to be genetic and is present at birth. Mental retardation occurs in approximately ten percent of cases. Symptoms Moebius Syndrome is identifiable at birth by a masklike expression most apparent during crying or laughing. The mouth and eyes may remain open during sleep due to facial nerve or muscle abnormalities. Eyes may become ulcerated because they are not lubricated with sufficient tears in the absence of blinking. Facial weakness or paralysis may cause difficulty in feeding during infancy and later can contribute to speech problems. Muscle paralysis can also cause oral fluid secretions to be breathed into the lungs possibly leading to bronchopneumonia. Abnormal skin folds on each side of the nose next to the eyes (epicanthus), abnormally small eyes, and defective development of the jaw and tongue may also occur. Children with this disorder may have more than five or fewer than five fingers on a hand. Fingers may also be webbed, stiffened, and/or shortened. Toes may also be stiffened in some cases, clubfeet may be present, and the hips may be dislocated at birth. This disorder may also occur in conjunction with Poland Syndrome. (For more information on this disorder, choose "Poland" as your search term in the Rare Disease Database.) Causes Moebius Syndrome is thought to be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, 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 normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Symptoms may be caused by incomplete development of facial nerves, other cranial nerves, and other parts of the central nervous system. Affected Population Moebius Syndrome is present at birth and affects males and females in equal numbers. It is a very rare birth defect. Related Disorders Symptoms of the following disorder can be similar to those of Moebius Syndrome. Comparison may be useful for a differential diagnosis: Facioscapulohumoral Muscular Dystrophy, also known as Landouzy-Dejerine Muscular Dystrophy, involves muscle weakness and wasting of the face, shoulders, and arms. This disorder is genetic and usually begins between nine and twenty years of age although it can begin during early childhood. The face is masklike, flattened and expressionless. Patients are often unable to raise their arms above the head. Shoulder blades are prominent. In later stages, weakness extends to the pelvis and legs. Therapies: Standard Treatment of Moebius Syndrome involves muscle transfer surgery or cosmetic surgery. Abnormal eye muscle alignment due to paralyzed muscles and other muscle abnormalities affecting the face, jaw, hands and/or feet may be corrected. Local eye medication may be helpful if eyes become too dry or ulcerated. A special diet may help prevent aspiration of fluid into the lungs and tube feeding may be necessary during infancy to maintain good nutrition. Speech therapy in conjunction with corrective vocal cord surgery may improve articulation. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through March 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 Moebius Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Moebius Syndrome Support Group 6449 Gerald Ave. Van Nuys, CA 91406 (818) 908-9288 Moebius Syndrome Support Group 21 Shields Rd. Whitley Bay, Tyne and Wear, NE25, 8UT, England NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Association for Congenital Facial Paralysis 928 Hanover Lane Dyer, IN 46311 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 About Face 99 Crowns Lane Toronto, Ontario M6R 3PA Canada (416) 944-3223 For information on genetics and genetic counseling referrals, please contact: 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 EXTRAOCULAR MUSCLE APLASIA IN MOEBIUS SYNDROME: E.I. Traboulsi, et al.; J Pediatr Ophthalmol Strabismus (May-June 1986, issue 23(3)). Pp. 120-122. ABNORMAL B.A.E.P. IN A FAMILY WITH MOEBIUS SYNDROME: EVIDENCE FOR SUPRANUCLEAR LESION: M. Stabile, et al.; Clin Genet (May 1984, issue 25(5)). Pp. 459-463. MOEBIUS SYNDROME. CASE REPORT WAS A 30-YEAR FOLLOW-UP: D.C. Morello, et al.; Plast Reconstr Surg (September 1977, issue 60(3)). Pp. 451-453.