Trichorhinophalangeal syndrome type 1

Common Name(s)

Trichorhinophalangeal syndrome type 1

Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. The range and severity of symptoms may vary from case to case. Transmission of TRPS1 is autosomal dominant, linked to mutations in the TRPS1 gene localized to 8q24.12.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trichorhinophalangeal syndrome type 1" for support, advocacy or research.

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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 type 1" returned 1 free, full-text research articles on human participants. First 3 results:

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: 28 Jan 2015

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The terms "Trichorhinophalangeal syndrome type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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