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Genetic counseling: Nager Syndrome

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Nager Syndrome

Also known asEdit

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

Exact cause unknownEdit

InheritanceEdit

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

Clinical FeaturesEdit

  • 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 ProblemsEdit

  • Stomach reflux
  • Kidney reflux
  • Hearing loss
  • Possible limitations in arm motion
  • Heart problems

DiagnosisEdit

  • Made on clinical features

Management & TreatmentEdit

  • 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

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
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.

ConclusionEdit

  • Overview of session
  • Give resource list
  • 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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