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Abnormal nasal hair morphology

MedGen UID:
867479
•Concept ID:
C4021858
•
Anatomical Abnormality
Synonyms: Abnormality of nasal hair; Abnormality of nose hair
 
HPO: HP:0040057

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal nasal hair morphology

Professional guidelines

PubMed

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.
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
Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I.
Yan Y, Huang S, Huang L, Zhang J, Li S, Zhang C, Luo X
Horm Res Paediatr 2024;97(1):28-39. Epub 2023 Mar 29 doi: 10.1159/000530414. PMID: 36990068
The median cleft face syndrome. Differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate.
DeMyer W
Neurology 1967 Oct;17(10):961-71. doi: 10.1212/wnl.17.10.961. PMID: 6069608

Recent clinical studies

Etiology

TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.
Scott TG, Sathyan KM, Gioeli D, Guertin MJ
PLoS Genet 2024 Feb;20(2):e1011159. Epub 2024 Feb 20 doi: 10.1371/journal.pgen.1011159. PMID: 38377146Free PMC Article
Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy.
Sen G, Barendt E, Sinha M
BMJ Case Rep 2021 Feb 4;14(2) doi: 10.1136/bcr-2020-237604. PMID: 33542011Free PMC Article
Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Closure of a scalp defect.
Cox AJ 3rd, Wang TD, Cook TA
Arch Facial Plast Surg 1999 Jul-Sep;1(3):212-5. doi: 10.1001/archfaci.1.3.212. PMID: 10937107
Hip pathology in the trichorhinophalangeal syndrome.
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

Trichorhinophalangeal syndrome.
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
Making extra teeth: Lessons from a TRPS1 mutation.
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
A hairy situation.
Ibrahim N, Wooles NR, Elloy M, Da Forno P
BMJ Case Rep 2015 Jun 8;2015 doi: 10.1136/bcr-2015-209825. PMID: 26055604Free PMC Article
Cone-shaped epiphysis.
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
Rapp-Hodgkin syndrome.
Kim G, Shin H
Dermatol Online J 2004 Nov 30;10(3):23. PMID: 15748593

Therapy

Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?
Marques JS, Maia C, Almeida R, Isidoro L, Dias C
Pediatr Endocrinol Rev 2015 Sep;13(1):465-7. PMID: 26540763
Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650
Cone-shaped epiphysis.
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
Nitric oxide in health and disease from the point of view of the otorhinolaryngologist.
Selimoglu E
Curr Pharm Des 2005;11(23):3051-60. doi: 10.2174/1381612054865037. PMID: 16178763
Carbimazole embryopathy: an emerging phenotype.
Foulds N, Walpole I, Elmslie F, Mansour S
Am J Med Genet A 2005 Jan 15;132A(2):130-5. doi: 10.1002/ajmg.a.30418. PMID: 15578620

Prognosis

TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.
Scott TG, Sathyan KM, Gioeli D, Guertin MJ
PLoS Genet 2024 Feb;20(2):e1011159. Epub 2024 Feb 20 doi: 10.1371/journal.pgen.1011159. PMID: 38377146Free PMC Article
Making extra teeth: Lessons from a TRPS1 mutation.
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
Closure of a scalp defect.
Cox AJ 3rd, Wang TD, Cook TA
Arch Facial Plast Surg 1999 Jul-Sep;1(3):212-5. doi: 10.1001/archfaci.1.3.212. PMID: 10937107
Hip pathology in the trichorhinophalangeal syndrome.
Dunbar JD, Sussman MD, Aiona MD
J Pediatr Orthop 1995 May-Jun;15(3):381-5. doi: 10.1097/01241398-199505000-00023. PMID: 7790499
Johanson-Blizzard syndrome with normal intelligence.
Moeschler JB, Lubinsky MS
Am J Med Genet 1985 Sep;22(1):69-73. doi: 10.1002/ajmg.1320220107. PMID: 4050852

Clinical prediction guides

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.
Saeki N, Inui-Yamamoto C, Ikeda Y, Kanai R, Hata K, Itoh S, Inubushi T, Akiyama S, Ohba S, Abe M
Hum Mol Genet 2024 Sep 3;33(18):1618-1629. doi: 10.1093/hmg/ddae102. PMID: 38899779
Making extra teeth: Lessons from a TRPS1 mutation.
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
Late-onset Rothmund-Thomson syndrome.
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Johanson-Blizzard syndrome with normal intelligence.
Moeschler JB, Lubinsky MS
Am J Med Genet 1985 Sep;22(1):69-73. doi: 10.1002/ajmg.1320220107. PMID: 4050852
The tricho-rhino-phalangeal syndrome.
McCloud DJ, Solomon LM
Br J Dermatol 1977 Apr;96(4):403-7. doi: 10.1111/j.1365-2133.1977.tb07136.x. PMID: 861178

Recent systematic reviews

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.
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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