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Genetic counseling: Miller Syndrome

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Miller Syndrome

Also known asEdit

  • Post axial acrofacial dysostosis
  • Acrofacial Dysostosis, Postaxial Type
  • Acrofacial Dysostosis, Type Genee-Wiedep
  • Genee-Wiedemann Syndrome

Inheritance believed to be AREdit

Clinical FeaturesEdit

  • 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

DiagnosisEdit

  • Made on clinical features

Management & TreatmentEdit

  • Surgeries
    • Tracheostomy to help with breathing
    • Gastrostomy tube to assure proper nutrition
    • Craniofacial surgery to the jaw, ears, and eyes

Genes & ChromosomesEdit

  • Possible AR inheritance

ResourcesEdit

  • 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

ConclusionsEdit

  • Overview session
  • Give client resources
  • Give contact info

NotesEdit

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.

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