Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Miller Syndrome


Synonyms of Miller Syndrome
  • POADS

Disorder Subdivisions

  • Acrofacial Dysostosis, Postaxial Type
  • Acrofacial Dysostosis, Type Genee-Wiedep
  • Genee-Wiedemann Syndrome
  • Postaxial Acrofacial Dysostosis


General Discussion
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.
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Organizations related to Miller Syndrome
  • American Society for Deaf Children
    PO Box 3355
    Gettysburg PA 17325
    Phone #: 800-942-6084
    800 #: 800-942-2732
    e-mail: ASDC1@aol.com
    Home page: http://www.deafchildren.org
  • Aniridia Network
    17 Sandmartin Crescent
    Colchester, Essex None CO3 8WQ
    Phone #: 44 -077-79 859 624
    800 #: N/A
    e-mail: Hannah@aniriddia.org
    Home page: http://www.aniridia.org
  • Children's Craniofacial Association
    13140 Coit Road
    Dallas TX 75240
    Phone #: 214-570-9099
    800 #: 800-535-3643
    e-mail: csmith@ccakids.com
    Home page: http://www.ccakids.com
  • FACES: The National Craniofacial Association
    P.O. Box 11082
    Chattanooga TN 37401
    Phone #: 423-266-1632
    800 #: 800-332-2373
    e-mail: faces@faces-cranio.org
    Home page: http://www.faces-cranio.org
  • Foundation for Nager and Miller Syndromes
    13210 SE 342nd Street
    Auburn WA 98092
    Phone #: N/A
    800 #: 800-507-3667
    e-mail: fnms4u@ameritech.net
    Home page: http://www.fnms.net
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • National Craniofacial Foundation
    3100 Carlisle Street
    Dallas TX 75204
    Phone #: --
    800 #: 800-535-3643
    e-mail: N/A
    Home page: N/A
  • Supovits, Karen, M.S.
    Division of Human Genetics
    Baltimore MD 20201-1703
    Phone #: 410-328-3815
    800 #: --
    e-mail: N/A
    Home page: N/A
  • Wulfsberg, Eric A., M.D.
    Division of Human Genetics
    Baltimore MD 20201-1703
    Phone #: 410-328-3815
    800 #: --
    e-mail: N/A
    Home page: N/A



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html