$Unique_ID{BRK04283} $Pretitle{} $Title{Treacher Collins Syndrome} $Subject{Treacher Collins Syndrome MFDI Mandibulofacial Dysostosis Franceschetti-Klein Syndrome Nager Acrofacial Dysostosis Goldenhar-Gorlin Syndrome Oral-Digital-Facial Syndrome Juberg-Hayword Syndrome Hemifacial Microsomia} $Volume{} $Log{} Copyright (C) 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 647: Treacher Collins Syndrome ** IMPORTANT ** It is possible that the main title of the article Treacher Collins) 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 MFDI Mandibulofacial Dysostosis Franceschetti-Klein Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Nager Acrofacial Dysostosis Goldenhar-Gorlin Syndrome Oral-Digital-Facial Syndrome Juberg-Hayword Syndrome Hemifacial Microsomia 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. Treacher Collins Syndrome is a rare genetic disorder characterized by slanted eyes, difficulty swallowing, deformities of the jaw (including maxilla and mandible), ears and deafness. Symptoms Treacher Collins Syndrome is characterized by underdevelopment of the cheek (malar), the lower jaw (mandibular) and jaw bones, slanted eyes, notching of lower eyelids, and a receding chin. Underdevelopment of the jaw may cause problems in swallowing or breathing for the newborn, tubes may have to be inserted to aid the infant in feeding and breathing. The outer upper area of the ear (pinna) may be malformed as well as the external hearing canal (auditory meatus). The eardrum (tympanic membrane) may be replaced with a bony plate. The combination of a longer than normal face with a beaklike nose, receding chin and acute deafness, characterize the appearance of patients with Treacher Collins Syndrome. Causes Treacher Collins is a rare genetic disorder which may result from a defect on the long arm of chromosome five. However, genetic studies are still in the process of determining the exact location of the genetic defect. This syndrome is 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 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.) A positive family history is found in less than half of new Treacher Collins patients. Thus, scientists suspect that approximately sixty percent of cases represent genetic mutations. Affected Population Treacher Collins Syndrome is a rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Treacher Collins. Comparisons may be useful for a differential diagnosis: Nager Acrofacial Dysostosis (Mandibulofacial Dysostosis) is a rare hereditary disorder marked by abnormal facial development. Cleft lip and palate, defective development of bones of the jaw and arms, and smaller than normal thumbs, hearing loss, and ear deformities are characteristics of this disorder. Goldenhar-Gorlin Syndrome is a rare congenital disorder that involves unusual facial characteristics. The facial structure of people with Goldenhar Syndrome may include partial absence of the upper eyelid or an unusual slant of the eyelid, abnormal shape of the skull (asymmetry), the forehead may be sharply prominent, the nostrils may be absent or closed, the roof of the mouth may be clefted (cleft palate), and there may be abnormal growth of the jaw. Paralysis of the eye muscles may occur. Unusual cysts on the eyeball, cysts in fatty tissue at the edge of the eye and skin growths around the ears (skin tags) may also occur. Malformations of the spinal column including open spine (spina bifida), fusion of the top of the spine to the lower edge of the skull, incomplete development of one side of the spinal column and more than the normal number of vertebrae may also be present. (For more information on this disorder, choose "Goldenhar" as your search term in the Rare Disease Database). Oral-Facial-Digital Syndrome is a rare genetic disorder characterized by episodic neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue(frenulum), a broad based nose, vertical folds of skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, and shorter than normal fingers and/or toes. (For more information on this disorder, choose "OFD" as your search term in the Rare Disease Database). Juberg-Hayward Syndrome (Orocraniodigital Syndrome) is a rare hereditary disorder characterized by cleft lip and palate, a smaller than normal sized head, deformities of the thumbs and toes, and growth hormone deficiency resulting in short stature. Hemifacial Microsomia (HFM) is a syndrome that affects one in 5,000 births. It can be confused with a Treacher Collins-like syndrome. However, it is not genetic. Although it can cause abnormalities on both sides of the face, they are always uneven whereas in Treacher Collins Syndrome both sides of the face appear equally affected. The facial nerve is frequently paralyzed in Hemifacial Microsomia. The variety of features of HFN include: underdevelopment of the lower jaw, tilting of the face to one side, ear deformities (microtia), facial nerve weakness in forty percent of patients, cleft-like notching of the affected corner of the mouth (macrostomia), and underdevelopment of the cheek and eye on the affected side of the face. Other common abnormalities include fatty tumors over the eye, abnormalities of the vertebrae and ribs, cleft lip/palate, and heart and kidney abnormalities which are very rare. Therapies: Standard Treatment of Treacher Collins Syndrome may include insertion of feeding or breathing tubes during infancy. Early speech and hearing evaluations may be necessary. Surgery to improve the appearance of the jaw and ears may be recommended. Depending on the type of hearing loss the patient has, surgery or the use of hearing aids may restore hearing. Speech/language difficulties may require speech/language therapy. The surgical treatment of Treacher Collins children is based on the age of the child. During infancy, attention is directed toward the upper airway. A tracheostomy may be necessary. During the first year of life, notching of the lower eyelids can be repaired. In the preschool and early school years, attention is directed toward correction of slanting eyelids, and flat cheek bones. Correction of the jaws and malocclusion is usually done in stages, the final corrections are done in teenage years, along with orthodontic therapy. Surgical correction of the external ear abnormalities may be done prior to school age for minor forms. If the major portion of the ear is missing, it is best to wait until age six so that sufficient rib cartilage is available for framework and grafting. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Scientists are studying various surgical methods to improve the appearance of Treacher Collins patients. One of the most recent procedures developed for correction of the malformations of the jaw (maxilla and mandible), and eyes is the Tessier Intergral Procedure. The desired results may be obtained in either one or two stages. Researchers at Johns Hopkins Hospital are trying to deteremine the genes responsible for craniofacial disorders. Physicians may contact: Drs. Amy Feldman Lewanda or Ethylin Wang Jabs at: CMSC 10, Johns Hopkins Hospital, Baltimore, MD, 21205, (301) 955-0484. 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 Treacher Collins Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Treacher Collins Foundation P.O. Box 683 Norwich, VT 05055 (802) 649-3020 National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 American Society for Deaf Children 814 Thayer Avenue Silver Spring, MD 20910 (301) 585-5400 Voice/TTY Deafness Research Foundation 55 East 34th Street New York, NY 10016 (212) 684-6556 Craniofacial Centre Children's Hospital 300 Longwood Ave. Boston, MA 02115 (617) 735-6309 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, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.480. PSYCHOSOCIAL ADJUSTMENT OF 20 PATIENTS WITH TREACHER COLLINS SYNDROME BEFORE AND AFTER RECONSTRUCTIVE SURGERY. E.M. Arndt, et al,; Br J Plast Surg (November, 1987, issue 40 (6)). Pp. 605-609. ANTHROPOMETRIC EVALUATION OF DYSMORPHOLOGY IN CRANIOFACIAL ANOMALIES; TREACHER COLLINS SYNDROME. J.C. Kolar, et al.; Am J Phys Anthropol (December, 1987, issue 74 (4)). Pp. 441-451. FAMILIAL TREACHER COLLINS SYNDROME. P.S. Murty, et al.; J Laryndol Otol (July, 1988, issue 102 (7)). Pp. 620-622.