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.

http://www.rtsplace.org/

Last Updated: 19 Nov 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 19 free, full-text research articles on human participants. First 3 results:

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.
 

Author(s): Avik K Ghosh, Marie L Rossi, Dharmendra Kumar Singh, Christopher Dunn, Mahesh Ramamoorthy, Deborah L Croteau, Yie Liu, Vilhelm A Bohr

Journal: J. Biol. Chem.. 2012 Jan;287(1):196-209.

 

Telomeres are structures at the ends of chromosomes and are composed of long tracks of short tandem repeat DNA sequences bound by a unique set of proteins (shelterin). Telomeric DNA is believed to form G-quadruplex and D-loop structures, which presents a challenge to the DNA replication ...

Last Updated: 2 Jan 2012

Go To URL
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.
 

Author(s): Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt, Isabelle Meyts

Journal:

 

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not ...

Last Updated: 27 Dec 2010

Go To URL
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
 

Author(s): Amanda J Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal

Journal: Hum. Mol. Genet.. 2010 Nov;19(22):4453-61.

 

Dyskeratosis congenita (DC) is an inherited poikiloderma which in addition to the skin abnormalities is typically associated with nail dystrophy, leucoplakia, bone marrow failure, cancer predisposition and other features. Approximately 50% of DC patients remain genetically uncharacterized. ...

Last Updated: 20 Oct 2010

Go To URL

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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.