Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Rothmund Thomson Syndrome


Synonyms of Rothmund Thomson Syndrome
  • Poikiloderma Atrophicans and Cataract
  • Poikiloderma Congenitale
  • RTS

Disorder Subdivisions



    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.

    Organizations related to Rothmund Thomson Syndrome
    • Human Growth Foundation
      997 Glen Cove Avenue
      Glen Head NY 11545
      Phone #: 516-671-4041
      800 #: 800-451-6434
      e-mail: hgf1@hgfound.org
      Home page: http://www.hgfound.org/
    • Little People of America, Inc.
      250 El Camino Real
      Tustin CA 92780
      Phone #: 714-368-3689
      800 #: 888-572-2001
      e-mail: info@lpaonline.org
      Home page: http://www.lpaonline.org
    • MAGIC Foundation for Children's Growth
      6645 W. North Avenue
      Oak Park IL 60302
      Phone #: 708-383-0808
      800 #: 800-362-4423
      e-mail: mary@magicfoundation.org
      Home page: http://www.magicfoundation.org
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • NIH/National Eye Institute
      Building 31 Rm 6A32
      Bethesda MD 20892-2510
      Phone #: 301-496-5248
      800 #: --
      e-mail: 2020@nei.nih.gov
      Home page: http://www.nei.nih.gov/
    • NIH/National Institute of Dental and Craniofacial Research
      None
      None None None
      Phone #: 301-496-4261
      800 #: --
      e-mail: nidcr@nih.gov
      Home page: http://www.nidcr.nih.gov/
    • National Association for Parents of Children with Visual Impairments (NAPVI)
      P.O. Box 317
      Watertown MA 02472
      Phone #: 617-972-7441
      800 #: 800-562-6265
      e-mail: napvi@perkins.org
      Home page: http://www.napvi.org
    • National Association for Visually Handicapped
      22 West 21st Street
      New York NY 10010
      Phone #: 212-889-3141
      800 #: --
      e-mail: staff@navh.org
      Home page: http://www.navh.org
    • National Foundation for Ectodermal Dysplasias
      410 East Main Street
      Mascoutah IL 62258-0114
      Phone #: 618-566-2020
      800 #: --
      e-mail: info@nfed.org
      Home page: http://www.nfed.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html