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    Phocomelia Syndrome

    Important
    It is possible that the main title of the report Phocomelia 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

    • Roberts SC-Phocomelia Syndrome
    • Roberts Tetraphocomelia Syndrome
    • SC Phocomelia Syndrome
    • Pseudo-thalidomide Syndrome

    Disorder Subdivisions

    • Fetal Effects of Thalidomide
    • Tetraphocomelia Syndrome

    General Discussion

    Phocomelia syndrome (PS) is a rare birth defect that causes severe birth defects, especially of the upper limbs. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. An extreme case results in the absence of the upper bones of both the arms and legs so that the hands and feet appear attached directly to the body. This is called tetraphocomelia.

    This disorder, PS, may be genetically transmitted within families as an autosomal recessive trait or may be the result of spontaneous (sporadic) changes in the gene. Because the signs of the disorder so closely mimic those caused by the ingestion of thalidomide by pregnant women, the term "pseudo-thalidomide" is frequently used.

    Resources

    National Rehabilitation Information Center
    8400 Corporate Drive
    Suite 500
    Landover, MD 20785
    United States
    Tel: (301)459-5900
    Fax: (301)459-4263
    Tel: (800)346-2742
    TDD: (301)459-5984
    Email: naricinfo@heitechservices.com
    Internet: http://www.naric.com

    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: 3/31/2008
    Copyright 1990, 1992, 1998, 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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