Rothmund Thomson syndrome
Other Names for this Disease
- Poikiloderma atrophicans and cataract
- Poikiloderma Congenitale
- Poikiloderma of Rothmund-Thomson
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
 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.
- 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) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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.