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: 12 Feb 2018

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General Support Organizations

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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: 12 Feb 2018

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

Trichorhinophalangeal syndrome type II presenting with short stature in a child.
 

Author(s): Filiz Hazan, Hüseyin A Korkmaz, Kanay Yararbaş, Wim Wuyts, Ajlan Tükün,

Journal: Arch Argent Pediatr. 2016 Dec;114(6):e403-e407.

 

Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two ...

Last Updated: 31 Dec 1969

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Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.
 

Author(s): Ramakrishna Narayanan, Srinivasa Chennareddy

Journal:

 

Trichorhinophalangeal syndrome type 1 is a rare skeletal dysplasia of autosomal-dominant inheritance due to defects in the TRPS-1 gene. The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal ...

Last Updated: 31 Dec 1969

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TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome.
 

Author(s): Akitaka Shibata, Kana Tanahashi, Kazumitsu Sugiura, Masashi Akiyama

Journal: Acta Derm. Venereol.. 2015 May;95(5):620-1.

 

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.