Rothmund Thomson Syndrome / Disease

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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.magicfoundation.org
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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