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GlossaryTrichorhinophalangeal Syndrome

rare genetic disorder affecting hair, facial features, and finger bones

Trichorhinophalangeal Syndrome (TRPS) is a rare genetic disorder characterized by distinctive facial features, abnormalities in the hair, and malformations of the fingers and toes. Individuals with TRPS often have sparse, slow-growing hair, a bulbous nose, and cone-shaped epiphyses in the phalanges, which can lead to joint issues and short stature.

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research Genetics of Structural Hair Disorders

17 citations, November 2012 in “Journal of Investigative Dermatology”

The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.

research Congenital Atrichia and Hypotrichosis

11 citations, May 2011 in “World Journal of Pediatrics”

The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.

research Aging and Anti-Aging in Hair and Hair Loss

1 citations, September 2013 in “Elsevier eBooks”

Hair ages and thins due to factors like inflammation and stress, and treatments like antioxidants and hormones might improve hair health.

research Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: A Case of Male PCOS

November 2022 in “Journal of the Endocrine Society”

A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.

research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient

9 citations, January 2017 in “Annals of Dermatology”

The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.

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