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    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.

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    Research 10 of 52

    1. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    2. <i>TRPS1</i> mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology Journal of dermatology · 2020 · 9 citations
    3. Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1 Pediatric Dermatology · 2024
    4. ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS Journal of the Endocrine Society · 2022
    5. A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report Journal of Comprehensive Pediatrics · 2022
    6. A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1 Journal of genetic medicine · 2018 · 1 citations
    7. Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I International Journal of Trichology · 2013
    8. Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient Annals of Dermatology · 2017 · 9 citations
    9. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    10. Das Trichorhinophalangealsyndrom Der Hautarzt · 2001 · 12 citations
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