$Unique_ID{BRK04203} $Pretitle{} $Title{Saethre-Chotzen Syndrome} $Subject{Saethre-Chotzen Syndrome Acrocephalosyndactyly Type III Chotzen Syndrome } $Volume{} $Log{} Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 330: Saethre-Chotzen Syndrome ** IMPORTANT ** It is possible the main title of the article (Saethre-Chotzen Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Acrocephalosyndactyly Type III Chotzen 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. Saethre-Chotzen syndrome is a hereditary disorder involving various craniofacial and skeletal malformations with abnormalities of the skin on the toes and fingers. Short stature and, in some cases, mild to moderate mental retardation may also occur. Symptoms Saethre-Chotzen syndrome is characterized by a small head (microcephaly), skull asymmetry, mildly fused or webbed fingers and/or toes (syndactyly), and facial abnormalities. These facial abnormalities may include: 1. skull bony fusion (craniosynostosis) 2. low-set frontal hairline 3. a beaked nose without the dividing septum 4. drooping (ptosis) of the eyelids 5. improper eye movement (strabismus) 6. tear duct shrinkage (stenosis) Shortness of fingers and/or toes (brachydactyly) and abnormal skin patterns (dermatoglyphics) on the hands and feet may also be present. Facial manifestations usually improve somewhat with time. Some respiratory, heart, and/or kidney problems can also develop in people with this disorder. Causes Saethre-Chotzen Syndrome is believed to be inherited as an autosomal dominant trait, although the specific defective gene has not yet been identified. (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.) Affected Population Saethre-Chotzen syndrome is present at birth. Both sexes can be affected and the disorder is found worldwide. Related Disorders Apert Syndrome is an autosomal dominant inherited disorder characterized by fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly or oxycephaly), other skeletal and facial abnormalities, and mental retardation. This disorder varies from Saethre-Chotzen because it has a narrower range of physical manifestations. For more information on Apert Syndrome, choose "Apert" as your search term in the Rare Disease Database. Therapies: Standard Treatment for Saethre-Chotzen Syndrome is symptomatic and supportive. Patients should be monitored carefully for respiratory or heart problems, and infection should be guarded against. Family members of patients can have less encompassing milder forms of the disorder, and might benefit from a medical evaluation. Genetic counseling may be useful to families of patients. Therapies: Investigational Research into causes and treatment of many genetic/birth defects is ongoing. For more information, please contact the agencies listed in the resources section of this entry. Researchers at Johns Hopkins Hospital are trying to determine 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 January 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 Saethre-Chotzen syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 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 Ave. New York, NY 10016 (212) 340-5400 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 About Face 99 Crowns Lane Toronto, Ontario M6R 3PA Canada (416) 944-3223 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 For more information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. 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 DERMATOGLYPHICS IN SAETHRE-CHOTZEN SYNDROME: A FAMILY STUDY: L. Borbolla, et. al.; Acta Paediatr Acad Sci Hung (1983 issue 24(3)). Pp. 269-279. THE SAETHRE-CHOTZEN SYNDROME: O.A. Pantke, et. al.; Birth Defects (1975, issue 11(2)). Pp. 190-225.