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National Organization for Rare Disorders, Inc.
- Acrofacial Dysostosis, Postaxial Type
- Acrofacial Dysostosis, Type Genee-Wiedep
- Genee-Wiedemann Syndrome
- Postaxial Acrofacial Dysostosis
Miller Syndrome, also known as postaxial acrofacial dysostosis, is an extremely rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive craniofacial malformations occurring in association with abnormalities of the outer aspects of the forearms and lower legs (postaxial limb deficiency). Craniofacial malformations may include underdevelopment of the cheekbones (malar hypoplasia); an abnormally small jaw (micrognathia); incomplete closure of the roof of the mouth (cleft palate); small, protruding, "cup-shaped" ears; and/or absence of tissue from (colobomas) and/or drooping of the lower eyelids, exposing the conjunctivae, the thin, delicate mucous membranes that line the eyelids as well as a portion of the eyeballs (ectropion). In infants and children with Miller Syndrome, limb abnormalities may include incomplete development (hypoplasia), webbing (syndactyly), and/or absence of certain fingers and/or toes (e.g., the fifth digits and, in some cases, the fourth and third digits) and/or underdevelopment (hypoplasia) of the bones on the "pinky" side (ulna) and, in some cases, the thumb side of the forearms (radius), causing the forearms to appear unusually short. Additional physical abnormalities may be present in some cases. Miller Syndrome is thought to be inherited as an autosomal recessive genetic trait.
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Foundation for Nager and Miller Syndromes
13210 SE 342nd Street
Auburn, WA 98092
American Society for Deaf Children
800 Florida Avenue NE
Washington, DC 20002-3695
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
109 Gavin Way
Colchester, CO4 9FR
Tel: (+44) 01206 842 742
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
For a Complete Report
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For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 4/20/2008
Copyright 1992, 1997, 2002 National Organization for Rare Disorders, Inc.