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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
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522

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
The deviated nose and asymmetric eyebrows: an important trap to avoid.
Katira K, Guyuron B
Plast Reconstr Surg 2014 Mar;133(3):519-523. doi: 10.1097/01.prs.0000438067.84408.be. PMID: 24572844
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA
Clin Genet 2014 Feb;85(2):138-46. Epub 2013 Apr 2 doi: 10.1111/cge.12116. PMID: 23379592Free 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
Median facial malformations and their implications for brain malformations.
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

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
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
Congenital atrichia and hypotrichosis.
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
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
The cardiofaciocutaneous syndrome.
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G
J Med Genet 2006 Nov;43(11):833-42. Epub 2006 Jul 6 doi: 10.1136/jmg.2006.042796. PMID: 16825433Free PMC Article

Therapy

Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.
Köhler CU, Schork K, Turewicz M, Eisenacher M, Roghmann F, Noldus J, Marcus K, Brüning T, Käfferlein HU
Int J Mol Sci 2024 Jan 6;25(2) doi: 10.3390/ijms25020738. PMID: 38255812Free PMC Article
The deviated nose and asymmetric eyebrows: an important trap to avoid.
Katira K, Guyuron B
Plast Reconstr Surg 2014 Mar;133(3):519-523. doi: 10.1097/01.prs.0000438067.84408.be. PMID: 24572844
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
Hallermann-Streiff syndrome: case report and literature review.
Robotta P, Schafer E
Quintessence Int 2011 Apr;42(4):331-8. PMID: 21516279
Syndromic (phenotypic) diarrhea in early infancy.
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP
Orphanet J Rare Dis 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. PMID: 18304370Free PMC Article
Median facial malformations and their implications for brain malformations.
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

Clinical prediction guides

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
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA
Clin Genet 2014 Feb;85(2):138-46. Epub 2013 Apr 2 doi: 10.1111/cge.12116. PMID: 23379592Free PMC Article
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
Distal 19q duplication.
Zonana J, Brown MG, Magenis RE
Hum Genet 1982;60(3):267-70. doi: 10.1007/BF00303015. PMID: 7106757
Median facial malformations and their implications for brain malformations.
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

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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