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Rothmund Thomson syndrome
Other Names for this Disease
- Poikiloderma atrophicans and cataract
- Poikiloderma Congenitale
- Poikiloderma of Rothmund-Thomson
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 It 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 developing osteosarcoma, a cancer of the bone. Rothmund Thomson syndrome is inherited in an autosomal recessive pattern. Mutations in the RECQL4 gene cause about two-thirds of all cases. In the other one-third of cases, the cause is unknown.Rothmund Thomson syndrome is a genetic condition that affects many parts of the body.
Last updated: 1/25/2012
- Wang LL. Rothmund Thomson Syndrome. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Rothmund%20Thomson%20Syndrome. Accessed 1/4/2010.
- Rothmund-Thomson Syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=rothmundthomsonsyndrome. Accessed 1/4/2010.
- The American Cancer Society provides a detailed guide on osteosarcoma. Click on the above link to access this information.
- Genetics Home Reference (GHR) contains information on Rothmund Thomson syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Rothmund Thomson syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Rothmund Thomson syndrome. Click on the link to view a sample search on this topic.