Genetic counseling: Nager Syndrome

Nager Syndrome

Also known as

 * Acrofacial Dysostosis, Nager Type
 * AFD
 * Nager Acrofacial Dysostosis Syndrome
 * Split Hand Deformity-Mandibulofacial Dysostosis

Inheritance

 * Unknown but…
 * Mild type family histories indicate AD inheritance
 * Severe type family histories indicate AR inheritance

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