Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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.


Rothmund Thomson syndrome is a genetic condition that affects many parts of the body.[1][2] 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.[1] 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.[1][2]
Last updated: 1/25/2012


  1. Wang LL. Rothmund Thomson Syndrome. National Organization for Rare Disorders (NORD). 2008; Accessed 1/4/2010.
  2. Rothmund-Thomson Syndrome. Genetics Home Reference (GHR). 2008; Accessed 1/4/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Rothmund Thomson syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • 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) 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.