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Glossary Trichorhinophalangeal 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

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research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

1 citations , January 2020 in “Skin appendage disorders”

This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.

research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

July 2025 in “Clinical Case Reports”

In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

research ODP408 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”

This case study suggests that genetic susceptibility to PCOS and rare syndromes, such as Trichorhinophalangeal syndrome Type 1, should be considered in young men with unexplained hyperandrogenism.

A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report

research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report

August 2022 in “Journal of Comprehensive Pediatrics”

This case report describes a 15-year-old girl with trichorhinophalangeal syndrome type 1 and a rare non-ossifying fibroma in her femur, suggesting a potential link between the genetic condition and bone lesions.

research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells

16 citations , March 2013 in “The Journal of Dermatology”

This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.

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community DHT Isn’t the Only Factor in Hair Loss and That Might Be the Key to a Real Cure

373 upvotes 6 months ago

Hair loss involves more than just DHT, with genetic factors like TRPS affecting hair follicles. Treatments such as Amplifica's AMP-601 and AMP-303 target stem cells for potential hair growth solutions.

community Proof DHT is not the main cause of hair loss. TRPS1 Gene and Protein might be. PP405 won’t work. AMP-303 might!

153 upvotes 6 months ago

Hair loss may be linked to the TRPS1 gene and protein, not just DHT. Amplifica's AMP-303 targets mesenchymal stem cells and shows promise in treating hair loss, unlike Pelage's PP405.

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