Rothmund Thomson syndrome

Common Name(s)

Rothmund Thomson syndrome

Rothmund Thomson syndrome is a genetic condition that affects many parts of the body. 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rothmund Thomson syndrome" for support, advocacy or research.

Rothmund-Thomson Syndrome Foundation

The purpose of this corporation is to: promote awareness of Rothmund-Thomson Syndrome (RTS) and related syndromes to the general public and to healthcare professionals; provide education and support to affected families worldwide; provide education to healthcare professionals who may encounter patients affected with these disorders; promote research aimed at understanding the molecular cellular basis of RTS and the clinical manifestations; and raise funds through events and contributions that will support the overall efforts of the group.

Last Updated: 19 Nov 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rothmund Thomson syndrome" for support, advocacy or research.

Rothmund-Thomson Syndrome Foundation

The purpose of this corporation is to: promote awareness of Rothmund-Thomson Syndrome (RTS) and related syndromes to the general public and to healthcare professionals; provide education and support to affected families worldwide; provide education to healthcare professionals who may encounter patients affected with these disorders; promote research aimed at understanding the molecular cellular basis of RTS and the clinical manifestations; and raise funds through events and contributions that will support the overall efforts of the group.

http://www.rtsplace.org/

Last Updated: 19 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Rothmund Thomson syndrome" returned 22 free, full-text research articles on human participants. First 3 results:

The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.
 

Author(s): Leslie K Ferrarelli, Venkateswarlu Popuri, Avik K Ghosh, Takashi Tadokoro, Chandrika Canugovi, Joseph K Hsu, Deborah L Croteau, Vilhelm A Bohr

Journal: DNA Repair (Amst.). 2013 Jul;12(7):518-28.

 

Telomeres are critical for cell survival and functional integrity. Oxidative DNA damage induces telomeric instability and cellular senescence that are associated with normal aging and segmental premature aging disorders such as Werner Syndrome and Rothmund-Thomson Syndrome, caused ...

Last Updated: 14 Jun 2013

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Clinical utility gene card for: Rothmund-Thomson syndrome.
 

Author(s): Lidia Larizza, Gaia Roversi, Alain Verloes

Journal: Eur. J. Hum. Genet.. 2013 Jul;21(7):.

 

Last Updated: 13 Jun 2013

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Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome.
 

Author(s): Terence Davis, Hannah S E Tivey, Amy J C Brook, Julia W Grimstead, Michal J Rokicki, David Kipling

Journal: Age (Dordr). 2013 Oct;35(5):1767-83.

 

Rothmund-Thomson fibroblasts had replicative lifespans and growth rates within the range for normal fibroblasts; however, they show elevated levels of the stress-associated p38 MAP kinase, suggestive of stress during growth. Treatment with the p38 MAP kinase inhibitor SB203580 increased ...

Last Updated: 18 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Rothmund Thomson syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Rothmund-Thomson syndrome.
 

Author(s): Lidia Larizza, Gaia Roversi, Ludovica Volpi

Journal:

 

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging ...

Last Updated: 23 Feb 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.