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    Fraser Syndrome

    Important
    It is possible that the main title of the report Fraser Syndrome 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

    • Cryptophthalmos-Syndactyly Syndrome
    • Cryptophthalmos Syndrome
    • Cyclopism
    • Fraser-Francois Syndrome
    • Meyer-Schwickerath's Syndrome
    • Ulrich-Feichtiger Syndrome

    Disorder Subdivisions

    • None

    General Discussion

    Fraser syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmos) that may be associated with malformation of the eyes, causing blindness. In infants with Fraser syndrome, renal malformations may include improper development (dysplasia), underdevelopment (hypoplasia), or absence of one or both kidneys (unilateral or bilateral renal agenesis). In affected males, one or both testes may fail to descend into the scrotum (cryptorchidism), the urinary opening (meatus) may be abnormally placed on the underside of the penis (hypospadias), and/or the penis may be abnormally small (micropenis). Affected females may have malformed fallopian tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicornate uterus). In addition, the folds of skin on either side of the vaginal opening (labia) may be abnormally fused. Infants and children with Fraser syndrome may also have additional abnormalities including malformations of the middle and outer ear that may result in hearing impairment. Fraser syndrome is inherited as an autosomal recessive genetic trait.

    Resources

    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
    Internet: 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
    Internet: http://www.faces-cranio.org

    American Kidney Fund, Inc.
    11921 Rockville Pike
    Suite 300
    Rockville, MD 20852
    USA
    Tel: (800)638-8299
    Email: helpline@kidneyfund.org
    Internet: http://www.kidneyfund.org

    AmeriFace
    P.O. Box 751112
    Limekiln, PA 19535
    USA
    Tel: (702)769-9264
    Fax: (702)341-5351
    Tel: (888)486-1209
    Email: info@ameriface.org
    Internet: http://www.ameriface.org

    National Kidney Foundation
    30 East 33rd Street
    New York, NY 10016
    Tel: (212)889-2210
    Fax: (212)689-9261
    Tel: (800)622-9010
    Email: info@kidney.org
    Internet: http://www.kidney.org

    National Foundation for Facial Reconstruction
    333 East 30th Street, Lobby Unit
    New York, NY 10016
    Tel: (212)263-6656
    Fax: (212)263-7534
    Internet: http://www.nffr.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
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    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: 4/21/2008
    Copyright 1989, 1997, 2006 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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