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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 30 of 53

    1. Trichorhinophalangeal Syndrome Dermatology · 1995 · 10 citations
    2. Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient Annals of Dermatology · 2017 · 9 citations
    3. 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 BMC medical genetics · 2014 · 9 citations
    4. TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome Journal of Dermatological Science · 2016 · 2 citations
    5. A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene Clinical Case Reports · 2025
    6. 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
    7. Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I International Journal of Trichology · 2013
    8. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    9. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    10. <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
    11. Treatment of Hair Loss in the Trichorhinophalangeal Syndrome 2018 · 4 citations
    12. Generalized hypertrichosis after 5% minoxidil solution in trichorhinophalangeal syndrome: A case report and review of the literatures 2023 · 1 citations
    13. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
    14. Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study Dermatology Practical & Conceptual · 2025
    15. Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1 Pediatric Dermatology · 2024
    16. A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report Journal of Comprehensive Pediatrics · 2022
    17. A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1 Journal of genetic medicine · 2018 · 1 citations
    18. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    19. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    20. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    21. Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis Development · 2011 · 59 citations
    22. Das Trichorhinophalangealsyndrom Der Hautarzt · 2001 · 12 citations
    23. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    24. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice 2008 · 60 citations
    25. Loose anagen hair syndrome International Journal of Trichology · 2010 · 40 citations
    26. Practical Guidelines for Evaluation of Loose Anagen Hair Syndrome Archives of Dermatology · 2009 · 46 citations
    27. Loose Anagen Hair Syndrome in Black‐Haired Indian Children Pediatric Dermatology · 2013 · 8 citations
    28. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    29. A Case of Loose Anagen Hair Syndrome in a Southeast Asian Boy Case reports in dermatology · 2019 · 1 citations
    30. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations