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
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
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.