Individual differences |
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Also known asEdit
- Post axial acrofacial dysostosis
- Acrofacial Dysostosis, Postaxial Type
- Acrofacial Dysostosis, Type Genee-Wiedep
- Genee-Wiedemann Syndrome
Inheritance believed to be AREdit
- 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
- Made on clinical features
Management & TreatmentEdit
- Tracheostomy to help with breathing
- Gastrostomy tube to assure proper nutrition
- Craniofacial surgery to the jaw, ears, and eyes
Genes & ChromosomesEdit
- Possible AR inheritance
- FACES: The National Craniofacial Association
- P. O. Box 11082
- Chattanooga, TN 37401
- (800) 332-2373
- email: email@example.com
- 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: firstname.lastname@example.org
- 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
- Overview session
- Give client resources
- Give contact info
The information in this outline was last updated in June 2003.
This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.