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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 Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells

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

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature

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

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

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”

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

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.

research Treatment of Hair Loss in the Trichorhinophalangeal Syndrome

4 citations, January 2018 in “Annals of dermatology/Annals of Dermatology”

Hair transplantation successfully treated hair loss in a patient with Trichorhinophalangeal syndrome.

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