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Trichorhinophalangeal syndrome

MedGen UID:
539179
Concept ID:
C0265255
Disease or Syndrome
Synonyms: trichorhinophalangeal syndrome; TRPS
SNOMED CT: Trichorhinophalangeal syndrome (18077009)
 
Monarch Initiative: MONDO:0017951
OMIM® Phenotypic series: PS190350
Orphanet: ORPHA324764

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Trichorhinophalangeal syndrome

Professional guidelines

PubMed

Ellison E, Grampp SJ, Ellison S, Seeley A, Seeley M
J Am Acad Orthop Surg Glob Res Rev 2024 Aug 1;8(8) Epub 2024 Aug 19 doi: 10.5435/JAAOSGlobal-D-24-00010. PMID: 39162698Free PMC Article

Recent clinical studies

Etiology

Ruiz F, Tjendra Y, Millan N, Gomez-Fernandez C, Pinto A
Am J Surg Pathol 2024 May 1;48(5):546-550. Epub 2024 Feb 15 doi: 10.1097/PAS.0000000000002193. PMID: 38357982
Tjendra Y, Millan N, Velez Torres JM, Zuo Y, Garcia-Buitrago M, Jorda M, Gomez-Fernandez CR
Acta Cytol 2023;67(3):273-279. Epub 2023 Jan 12 doi: 10.1159/000528249. PMID: 36634642
Abdelwahed M, Yurtsever N, Savant D, Karam P, Gimenez C, Das K, Sheikh-Fayyaz S, Khutti S
J Am Soc Cytopathol 2022 Nov-Dec;11(6):345-351. Epub 2022 Jul 14 doi: 10.1016/j.jasc.2022.06.007. PMID: 36055933
Sen G, Barendt E, Sinha M
BMJ Case Rep 2021 Feb 4;14(2) doi: 10.1136/bcr-2020-237604. PMID: 33542011Free PMC Article
Dunbar JD, Sussman MD, Aiona MD
J Pediatr Orthop 1995 May-Jun;15(3):381-5. doi: 10.1097/01241398-199505000-00023. PMID: 7790499

Diagnosis

Ai D, Yao J, Yang F, Huo L, Chen H, Lu W, Soto LMS, Jiang M, Raso MG, Wang S, Bell D, Liu J, Wang H, Tan D, Torres-Cabala C, Gan Q, Wu Y, Albarracin C, Hung MC, Meric-Bernstam F, Wistuba II, Prieto VG, Sahin AA, Ding Q
Mod Pathol 2021 Apr;34(4):710-719. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00692-8. PMID: 33011748
Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI
Reumatol Clin (Engl Ed) 2020 Nov-Dec;16(6):499-501. Epub 2018 Dec 3 doi: 10.1016/j.reuma.2018.08.015. PMID: 30522940
Cammarata-Scalisi F, Avendaño A, Callea M
Arch Argent Pediatr 2018 Dec 1;116(6):437-444. doi: 10.5546/aap.2018.eng.437. PMID: 30457727
Bennàssar A, Ferrando J, Grimalt R
World J Pediatr 2011 May;7(2):111-7. Epub 2011 May 15 doi: 10.1007/s12519-011-0262-z. PMID: 21574026
Morioka D, Hosaka Y
Aesthetic Plast Surg 2000 Jan-Feb;24(1):39-45. doi: 10.1007/s002669910008. PMID: 10742468

Therapy

Lei M, Liang D, Yang Y, Mitsuhashi S, Katoh K, Miyake N, Frith MC, Wu L, Matsumoto N
J Hum Genet 2020 Aug;65(8):667-674. Epub 2020 Apr 15 doi: 10.1038/s10038-020-0754-6. PMID: 32296131Free PMC Article
Marques JS, Maia C, Almeida R, Isidoro L, Dias C
Pediatr Endocrinol Rev 2015 Sep;13(1):465-7. PMID: 26540763
Macchiaiolo M, Mennini M, Digilio MC, Buonuomo PS, Lepri FR, Gnazzo M, Grandin A, Angioni A, Bartuli A
Am J Med Genet A 2014 Mar;164A(3):760-3. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36327. PMID: 24357341
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ
Am J Phys Med Rehabil 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. PMID: 22854906
Stagi S, Bindi G, Galluzzi F, Lapi E, Salti R, Chiarelli F
Am J Med Genet A 2008 Jun 15;146A(12):1598-604. doi: 10.1002/ajmg.a.32348. PMID: 18478599

Prognosis

Wang X, Sun J, Liu Y, Lin Z, Jiang X, Ye Y, Lv C, Lian X, Xu W, Luo S, Liao S, Chen Z, Wang S
Int J Cancer 2024 May 1;154(9):1639-1651. Epub 2024 Jan 11 doi: 10.1002/ijc.34844. PMID: 38212905
Tjendra Y, Millan N, Velez Torres JM, Zuo Y, Garcia-Buitrago M, Jorda M, Gomez-Fernandez CR
Acta Cytol 2023;67(3):273-279. Epub 2023 Jan 12 doi: 10.1159/000528249. PMID: 36634642
Ai D, Yao J, Yang F, Huo L, Chen H, Lu W, Soto LMS, Jiang M, Raso MG, Wang S, Bell D, Liu J, Wang H, Tan D, Torres-Cabala C, Gan Q, Wu Y, Albarracin C, Hung MC, Meric-Bernstam F, Wistuba II, Prieto VG, Sahin AA, Ding Q
Mod Pathol 2021 Apr;34(4):710-719. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00692-8. PMID: 33011748
Kunotai W, Ananpornruedee P, Lubinsky M, Pruksametanan A, Kantaputra PN
Am J Med Genet A 2017 Jan;173(1):99-107. Epub 2016 Oct 5 doi: 10.1002/ajmg.a.37967. PMID: 27706911
Dunbar JD, Sussman MD, Aiona MD
J Pediatr Orthop 1995 May-Jun;15(3):381-5. doi: 10.1097/01241398-199505000-00023. PMID: 7790499

Clinical prediction guides

Ruiz F, Tjendra Y, Millan N, Gomez-Fernandez C, Pinto A
Am J Surg Pathol 2024 May 1;48(5):546-550. Epub 2024 Feb 15 doi: 10.1097/PAS.0000000000002193. PMID: 38357982
Wang X, Sun J, Liu Y, Lin Z, Jiang X, Ye Y, Lv C, Lian X, Xu W, Luo S, Liao S, Chen Z, Wang S
Int J Cancer 2024 May 1;154(9):1639-1651. Epub 2024 Jan 11 doi: 10.1002/ijc.34844. PMID: 38212905
Tjendra Y, Millan N, Velez Torres JM, Zuo Y, Garcia-Buitrago M, Jorda M, Gomez-Fernandez CR
Acta Cytol 2023;67(3):273-279. Epub 2023 Jan 12 doi: 10.1159/000528249. PMID: 36634642
Ai D, Yao J, Yang F, Huo L, Chen H, Lu W, Soto LMS, Jiang M, Raso MG, Wang S, Bell D, Liu J, Wang H, Tan D, Torres-Cabala C, Gan Q, Wu Y, Albarracin C, Hung MC, Meric-Bernstam F, Wistuba II, Prieto VG, Sahin AA, Ding Q
Mod Pathol 2021 Apr;34(4):710-719. Epub 2020 Oct 3 doi: 10.1038/s41379-020-00692-8. PMID: 33011748
Kunotai W, Ananpornruedee P, Lubinsky M, Pruksametanan A, Kantaputra PN
Am J Med Genet A 2017 Jan;173(1):99-107. Epub 2016 Oct 5 doi: 10.1002/ajmg.a.37967. PMID: 27706911

Recent systematic reviews

Ellison E, Grampp SJ, Ellison S, Seeley A, Seeley M
J Am Acad Orthop Surg Glob Res Rev 2024 Aug 1;8(8) Epub 2024 Aug 19 doi: 10.5435/JAAOSGlobal-D-24-00010. PMID: 39162698Free PMC Article

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