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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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5 / 63 results

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.

research Trichorhinophalangeal Syndrome

10 citations , January 1995 in “Dermatology”

This case study suggests that early or significant alopecia in young adults may warrant investigation for underlying congenital conditions like trichorhinophalangeal syndrome.

research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

10 citations , November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics”

This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.

research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

9 citations , May 2014 in “BMC medical genetics”

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

9 citations , April 2020 in “Journal of dermatology”

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

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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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