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 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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Copyright 1990, 1995, 1997, 2001, 2002, 2008
NORD is very grateful to Lisa L. Wang, MD, Texas Children's Cancer Center, Baylor College of Medicine, for assistance in the preparation of this report.
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
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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
Suite 201
Tustin CA 92780
Phone #: 714-368-3689
800 #: 888-572-2001
e-mail: info@lpaonline.org
Home page: http://www.lpaonline.org
- MAGIC Foundation
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
31 Center Dr MSC 2510
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
PO Box 114
Mascoutah IL 62258-0114
Phone #: 618-566-2020
800 #: --
e-mail: info@nfed.org
Home page: http://www.nfed.org
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