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    Roberts Syndrome

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

    • Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome
    • Pseudothalidomide Syndrome
    • SC Syndrome

    Disorder Subdivisions

    • Phocomelia

    General Discussion

    Roberts syndrome is a rare genetic disorder characterized by growth delays before and after birth (pre- and postnatal growth deficiency); malformations of the arms and legs (limbs); distinctive abnormalities of the skull and facial (craniofacial) region. Mental retardation occurs in some cases; normal intelligence has also been reported.

    In infants with Roberts syndrome, the arms and legs may be incompletely developed (limb reduction abnormalities), however, such limb defects are usually symmetrical which are distinct from the asymmetrical limb defects in CdLS. Such abnormalities may range from absence of all four limbs (tetraphocomelia) to less severe degrees of limb reduction, such as underdevelopment and/or absence of certain bones of the upper arms (humeri), forearms (radii and/or ulnae), thighs (femurs), shins (tibiae), and/or on the outside of the lower legs (fibulae). Characteristic craniofacial abnormalities may include an unusually small, broad head (microbrachycephaly); abnormal grooves on either side of the upper lip (bilateral cleft lip); incomplete development of the roof of the mouth (cleft palate); thin, small wings of the nose (hypoplastic nasal alae); and/or low-set, malformed (dysplastic) ears. Additional abnormalities are often present. Roberts syndrome is probably genetically heterogeneous. While it is inherited as an autosomal recessive trait in most families, the possibility of new mutation in an autosomal dominant gene cannot be excluded.
    Initially, researchers believed that Roberts syndrome and SC phocomelia syndrome were separate disorders. However, researchers now believe that the two disorders are different expressions of one distinct disorder because different changes in the same gene are the underlying cause for both conditions.

    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

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.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

    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

    Reach
    P.O. Box 54
    Helston
    Cornwall, TR13 8WD
    United Kingdom
    Tel: 08451306225
    Fax: 08451300262
    Email: reach@reach.org.uk
    Internet: http://www.reach.org.uk

    NIH/National Institute of Child Health and Human Development
    31 Center Dr
    Building 31, Room 2A32
    MSC2425
    Bethesda, MD 20892
    Fax: (866)760-5947
    Tel: (800)370-2943
    TDD: (888)320-6942
    Email: NICHDInformationResourceCenter@mail.nih.gov
    Internet: http://www.nichd.nih.gov/

    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: 1/17/2012
    Copyright 1989, 1990, 1992, 1995, 1997, 2004, 2006, 2009, 2012 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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