Trichorhinophalangeal Syndrome

Common Name(s)

Trichorhinophalangeal Syndrome

Trichorhinophalangeal syndrome (TRPS) is a rare genetic condition. There is type 1 (TRPS1) and type 2 (TRPS2), TRPS2 is sometimes called Langer-Giedion syndrome. Both types of TRPS have the symptoms of delayed growth with short stature, slow hair growth, prominant nose, and short fingers and toes. Other symptoms may include health issues with joints and bones, such as hip problems that may limit movement. Those with TRPS2 may also experience noncancerous bony tumors that grow on the bones.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trichorhinophalangeal Syndrome" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 7 May 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trichorhinophalangeal Syndrome" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 7 May 2014

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General Support Organizations

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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 "Trichorhinophalangeal Syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

Prognostic value of the trichorhinophalangeal syndrome-1 (TRPS-1), a GATA family transcription factor, in early-stage breast cancer.
 

Author(s): J Q Chen, Y Bao, J Lee, J L Murray, J K Litton, L Xiao, R Zhou, Y Wu, X Y Shen, H Zhang, A A Sahin, R L Katz, M L Bondy, N L Berinstein, G N Hortobagyi, L G Radvanyi

Journal: Ann. Oncol.. 2013 Oct;24(10):2534-42.

 

TRPS-1 is a new GATA transcription factor that is differentially expressed in breast cancer (BC) where it been found recently to regulate epithelial-to-mesenchymal transition (EMT).

Last Updated: 27 Sep 2013

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[Trichorhinophalangeal syndrome--clinical presentation and genetics].
 

Author(s): Kristoffer M Brodwall, Pétur B Júlíusson, Robert Bjerknes, Randi Hovland, Torunn Fiskerstrand

Journal: Tidsskr. Nor. Laegeforen.. 2011 Aug;131(15):1420-3.

 

The trichorhinophalangeal syndrome (TRPS) is a hereditary, skeletal dysplasia which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype. Typical findings may be mild and many patients probably remain undiagnosed.

Last Updated: 16 Aug 2011

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The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer.
 

Author(s): Laszlo Radvanyi, Devender Singh-Sandhu, Scott Gallichan, Corey Lovitt, Artur Pedyczak, Gustavo Mallo, Kurt Gish, Kevin Kwok, Wedad Hanna, Judith Zubovits, Jane Armes, Deon Venter, Jalil Hakimi, Jean Shortreed, Melinda Donovan, Mark Parrington, Pamela Dunn, Ray Oomen, James Tartaglia, Neil L Berinstein

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2005 Aug;102(31):11005-10.

 

A comprehensive differential gene expression screen on a panel of 54 breast tumors and >200 normal tissue samples using DNA microarrays revealed 15 genes specifically overexpressed in breast cancer. One of the most prevalent genes found was trichorhinophalangeal syndrome type 1 (TRPS-1), ...

Last Updated: 3 Aug 2005

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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 "Trichorhinophalangeal Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Roles of trichorhinophalangeal syndrome-1 gene in normal breast development and breast cancer].
 

Author(s): Yi Bao, Zheng-xiang Zhong, Ge Cui, Li Guo, Zhao-feng Wang

Journal: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2013 Feb;35(1):121-4.

 

GATA transcription factor family members have been found to involve in the growth and differentiation of mammary gland. Among them GATA-3 is regarded as the most critical regulator involving the tumorigenesis of breast cancer (BC). Recently, trichorhinophalangeal syndrome-1 gene (TRPS-1), ...

Last Updated: 8 Mar 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.