Handbook of Genetic Counseling/Nager Syndrome

Nager Syndrome Also known as Acrofacial Dysostosis, Nager Type AFD Nager Acrofacial Dysostosis Syndrome Split Hand Deformity-Mandibulofacial Dysostosis Exact cause unknown Inheritance Unknown but… Mild type family histories indicate AD inheritance Severe type family histories indicate AR inheritance SF4 Gene Clinical Features Downward slanting eyelids Absence or underdeveloped cheekbones Severe underdevelopment of the lower jaw Malformed outer and middle ears Cleft palate Absence of lower eyelashes Scalp hair extending onto the cheek Underdeveloped or missing thumbs Occasional absence of the radial limb Preaxial limb anomalies Other Problems Stomach reflux Kidney reflux Hearing loss Possible limitations in arm motion Heart problems Diagnosis Made on clinical features Management & Treatment Surgeries Tracheostomy to help with breathing Gastrostomy tube to assure proper nutrition Craniofacial surgery for the jaw and ears Identify and manage hearing loss Thorough work-up to identify any heart & kidney problems 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 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 Nager 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. Conclusion Overview of session Give resource list Give contact info Notes The information in this outline was last updated in June 2003.