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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
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
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
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
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
The Floating-Harbor syndrome.
Majewski F, Lenard HG
Eur J Pediatr 1991 Feb;150(4):250-2. doi: 10.1007/BF01955523. PMID: 2029915

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
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
Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome.
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
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
Antipsoriatic activity of a new synthetic retinoid. The arotinoid RO 13-6298.
Tsambaos D, Orfanos CE
Arch Dermatol 1983 Sep;119(9):746-51. PMID: 6614962

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

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
New autosomal dominant branchio-oculo-facial syndrome.
Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG
Am J Med Genet 1987 Aug;27(4):943-51. doi: 10.1002/ajmg.1320270422. PMID: 3321995
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
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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