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    Frontofacionasal Dysplasia

    Frontofacionasal Dysplasia

    National Organization for Rare Disorders, Inc.

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    Important
    It is possible that the main title of the report Frontofacionasal Dysplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • facio-fronto-nasal dysplasia
    • FFND
    • frontofacionasal dysostosis

    Disorder Subdivisions

    • None

    General Discussion

    Frontofacionasal dysplasia is a rare genetic disorder that is apparent at birth (congenital). The disorder is primarily characterized by malformations of the head and facial (craniofacial) area and eye (ocular) defects. Craniofacial malformations may include an unusually short, broad head (brachycephaly); incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); and underdevelopment (hypoplasia) of the nose with malformation of the nostrils. Affected infants may also have abnormal narrowing of the folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis) and an unusually increased distance between the eyes (ocular hypertelorism). Additional eye abnormalities may include partial absence of tissue (coloboma) from the upper eyelids or the colored regions of the eyes (irides) and an inability to completely close the eyes (lagophthalmos). The signs and symptoms of frontofacionasal dysplasia are highly variable. Frontofacionasal dysplasia appears to be inherited as an autosomal recessive trait.

    Supporting Organizations

    AmeriFace

    PO Box 751112
    Las Vegas, NV 89136
    USA
    Tel: (702)769-9264
    Fax: (702)341-5351
    Tel: (888)486-1209
    Email: info@ameriface.org
    Website: http://www.ameriface.org

    American Cleft Palate-Craniofacial Association

    1504 East Franklin Street
    Suite 102
    Chapel Hill, NC 27514-2820
    USA
    Tel: (919)933-9044
    Fax: (919)933-9604
    Tel: (800)242-5338
    Email: info@cleftline.org
    Website: http://www.cleftline.org

    Children's Craniofacial Association

    13140 Coit Road
    Suite 517
    Dallas, TX 75240
    USA
    Tel: (214)570-9099
    Fax: (214)570-8811
    Tel: (800)535-3643
    Email: contactCCA@ccakids.com
    Website: http://www.ccakids.com

    FACES: The National Craniofacial Association

    PO Box 11082
    Chattanooga, TN 37401
    Tel: (423)266-1632
    Fax: (423)267-3124
    Tel: (800)332-2373
    Email: faces@faces-cranio.org
    Website: http://www.faces-cranio.org

    Genetic and Rare Diseases (GARD) Information Center

    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    Website: http://rarediseases.info.nih.gov/GARD/

    MyFace

    333 East 30th Street, Lobby Unit
    New York, NY 10016
    Tel: (212)263-6656
    Fax: (212)263-7534
    Email: info@myface.org
    Website: http://www.myface.org

    Prescription Parents

    22 Ingersoll Road
    P.O. Box 920554
    Wellesley, MA 2181
    USA
    Tel: (617)499-1936
    Email: info@prescriptionparents.org
    Website: http://www.prescriptionparents.org

    Wide Smiles

    P.O. Box 5153
    Stockton, CA 95205-0153
    USA
    Tel: (209)942-2812
    Fax: (209)464-1497
    Email: josmiles@yahoo.com
    Website: http://www.widesmiles2.org/

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    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 orphan@rarediseases.org

    Last Updated:  12/23/1969
    Copyright  2014 National Organization for Rare Disorders, Inc.

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