Search

for
Search:

Did you mean Trichorhinophalangeal Syndrome?

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.

Related Terms

Research

5 / 63 results

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

9 citations , January 2017 in “Annals of Dermatology”

In this study of a TRPS type I patient, many genes related to keratin and hair development were down-regulated in balding scalp areas, providing new insights into TRPS and hair morphogenesis.

research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I

January 2013 in “International Journal of Trichology”

This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

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

research TRPS1i> 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.

research Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1

January 2024 in “Pediatric Dermatology”

This case study found that a 9-year-old girl with trichorhinophalangeal syndrome type 1 experienced significant improvements in hair density and length after 4 months of topical minoxidil treatment, suggesting its therapeutic potential for this condition.

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.

View more "trichorhinophalangeal syndrome type i" in research →

Community Join

1 / 1000+ results

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.

View more "trichorhinophalangeal syndrome type i" in community →

Learn

— no results

Try a deeper search in learn →

Experts

— no results

Try a deeper search in experts →

Clinics

— no results

Try a deeper search in clinics →