Handbook of Genetic Counseling/Miller Syndrome

Miller Syndrome Also known as Post axial acrofacial dysostosis Acrofacial Dysostosis, Postaxial Type Acrofacial Dysostosis, Type Genee-Wiedep Genee-Wiedemann Syndrome Inheritance believed to be AR Clinical Features Distinctive craniofacial malformations Underdeveloped cheekbones Abnormally small jaw (micrognathia) Cleft palate Small, protruding "cup-shaped" ears Drooping of the lower eyelids Limb Anomalies Incomplete limb development Webbing of fingers or toes Absence of certain fingers and /or toes Underdevelopment of the ulna (bones on the "pinkie" side) and the radius (bones on the thumb side) causing the forearms to appear unusually short Intelligence is normal Diagnosis Made on clinical features Management & Treatment Surgeries Tracheostomy to help with breathing Gastrostomy tube to assure proper nutrition Craniofacial surgery to the jaw, ears, and eyes Genes & Chromosomes Possible AR inheritance Resources FACES: The National Craniofacial Association P. O. Box 11082 Chattanooga, TN 37401 (800) 332-2373 email: faces@faces-cranio.org Provides financial support for non-medical expenses to patients traveling to a craniofacial center for treatment. Eligibility is based on financial and medical need. Resources include newsletters, information about craniofacial conditions, and networking opportunities. The Foundation for Nager and Miller Syndromes Margaret Ieronimo 1827 #2 Grove Street Glenview, IL 60025 (800) 507-FNMS email: fnms@interaccess.com web site: http://www.nagerormillersynd.com/new Excellent resource!! This is an international support group that serves as an information clearinghouse that links families together. They have an extensive library of resources and medical reports and are involved in a genetic research project working to locate the genes responsible for Miller Syndrome. Twice a year, they publish a very informative newsletter. National Health Law Program 1101 14th Street, NW, Suite 405 Washington, DC 20005 (202) 289-7661 Website: http://www.healthlaw.org Provides extensive information on health care law affecting families with children who have special health care needs. Children with Facial Difference: A Parent's Guide. Written by Hope Charkins, MSW. Published by Woodbine House, 1996. 1-800-843-7323. Excellent resource for parents to help them cope with medical, emotional, social, educational, legal, and financial challenges presented by facial differences of their children Conclusions Overview session Give client resources Give contact info Notes The information in this outline was last updated in June 2003.