Skip to content

    Children's Health

    Font Size
    A
    A
    A

    Rothmund Thomson Syndrome

    Important
    It is possible that the main title of the report Rothmund Thomson 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

    • poikiloderma atrophicans and cataract
    • poikiloderma congenitale
    • RTS

    Disorder Subdivisions

    • None

    General Discussion

    Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental abnormalities, and an increased risk of cancer, especially bone cancer (osteosarcoma). Patients typically begin having signs of RTS during infancy, and the first feature to appear is a rash that starts on the cheeks and later spreads to other parts of the body. The rash gradually becomes chronic and persists for life. Other features may appear that involve other areas of the body such as the eyes, bones, teeth, and hair, and patients may often be small in size compared to their peers. Patients are at an increased risk for developing cancer, particularly certain types of skin and bone cancer. Lifespan is generally felt to be normal in the absence of death due to cancer, although follow-up data in the published literature are limited. RTS is inherited as an autosomal recessive genetic condition. The gene defect in two-thirds of cases is due to mutations in a gene called RECQL4. For the other one-third of patients, the gene(s) involved has not yet been identified.

    Resources

    Human Growth Foundation
    997 Glen Cove Avenue
    Suite 5
    Glen Head, NY 11545
    Tel: (516)671-4041
    Fax: (516)671-4055
    Tel: (800)451-6434
    Email: hgf1@hgfound.org
    Internet: http://www.hgfound.org/

    MAGIC Foundation
    6645 W. North Avenue
    Oak Park, IL 60302
    Tel: (708)383-0808
    Fax: (708)383-0899
    Tel: (800)362-4423
    Email: mary@magicfoundation.org
    Internet: http://www.magicfoundation.org

    National Foundation for Ectodermal Dysplasias
    6 Execuitive Drive
    Suite 2
    Fairview Hiights, IL 62208
    Tel: (618)566-2020
    Fax: (618)566-4718
    Email: info@nfed.org
    Internet: http://www.nfed.org

    Lighthouse International
    111 E 59th St
    New York, NY 10022-1202
    Tel: (800)829-0500
    Email: info@lighthouse.org
    Internet: http://www.lighthouse.org

    National Association for Parents of Children with Visual Impairments (NAPVI)
    P.O. Box 317
    Watertown, MA 02272-0317
    Tel: (617)972-7441
    Fax: (617)972-7444
    Tel: (800)562-6265
    Email: napvi@perkins.org
    Internet: http://www.napvi.org

    Little People of America, Inc.
    250 El Camino Real Suite 201
    Tustin, CA 92780
    Tel: (714)368-3689
    Fax: (714)368-3367
    Tel: (888)572-2001
    Email: info@lpaonline.org
    Internet: http://www.lpaonline.org/

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    NIH/National Eye Institute
    31 Center Dr
    MSC 2510
    Bethesda, MD 20892-2510
    United States
    Tel: (301)496-5248
    Fax: (301)402-1065
    Email: 2020@nei.nih.gov
    Internet: http://www.nei.nih.gov/

    NIH/National Institute of Dental and Craniofacial Research
    Building 31, Room 2C39
    31 Center Drive, MSC 2290
    Bethesda, MD 20892
    USA
    Tel: (301)496-4261
    Fax: (301)480-4098
    Tel: (866)232-4528
    Email: nidcrinfo@mail.nih.gov
    Internet: http://www.nidcr.nih.gov/

    Coalition for Heritable Disorders of Connective Tissue (CHDCT)
    4301 Connecticut Avenue, NW Suite 404
    Washington, DC 20008
    Tel: (202)362-9599
    Fax: (202)966-8553
    Tel: (800)778-7171
    Email: chdct@pxe.org
    Internet: http://www.chdct2.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/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.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: 3/15/2012
    Copyright 1990, 1995, 1997, 2001, 2002, 2008, 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.

    Today on WebMD

    child with red rash on cheeks
    What’s that rash?
    plate of fruit and veggies
    How healthy is your child’s diet?
     
    smiling baby
    Treating diarrhea, fever and more.
    Middle school band practice
    Understanding your child’s changing body.
     

    worried kid
    fitArticle
    jennifer aniston
    Slideshow
     
    Measles virus
    Article
    sick child
    Slideshow
     

    babyapp
    New
    Child with adhd
    Slideshow
     
    rl with friends
    fitSlideshow
    Child Coughing or Sneezing into Elbow
    Article