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Abnormality of the nose

MedGen UID:
539457
Concept ID:
C0265736
Congenital Abnormality
Synonyms: Anomaly of the nose; Congenital anomaly of nose; Congenital deformity of nose; Congenital malformation of nose; Congenital nasal deformity; Deformity of the nose; Malformation of the nose; Nasal abnormality; Nasal anomaly; Nasal deformity; Nasal malformation
SNOMED CT: Congenital deformity of nose (72089000); Congenital malformation of nose (72089000); Congenital anomaly of nose (128274005); Congenital nasal deformity (72089000)
 
HPO: HP:0000366

Definition

An abnormality of the nose. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the nose

Conditions with this feature

Holoprosencephaly 3
MedGen UID:
327125
Concept ID:
C1840529
Disease or Syndrome
Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.

Professional guidelines

PubMed

Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Tunkel DE, Anne S, Payne SC, Ishman SL, Rosenfeld RM, Abramson PJ, Alikhaani JD, Benoit MM, Bercovitz RS, Brown MD, Chernobilsky B, Feldstein DA, Hackell JM, Holbrook EH, Holdsworth SM, Lin KW, Lind MM, Poetker DM, Riley CA, Schneider JS, Seidman MD, Vadlamudi V, Valdez TA, Nnacheta LC, Monjur TM
Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111
Lagan N, Huggard D, Mc Grane F, Leahy TR, Franklin O, Roche E, Webb D, O' Marcaigh A, Cox D, El-Khuffash A, Greally P, Balfe J, Molloy EJ
Acta Paediatr 2020 Jun;109(6):1096-1111. Epub 2020 Jan 24 doi: 10.1111/apa.15153. PMID: 31899550

Recent clinical studies

Etiology

Assouline-Vitale SL, Ruffenach L, Bodin F, Zink S, Romary B, Bruant-Rodier C, Dissaux C
Ann Chir Plast Esthet 2023 Apr;68(2):131-138. Epub 2022 Aug 1 doi: 10.1016/j.anplas.2022.06.003. PMID: 35927106
Rao R, Platt LD
Semin Perinatol 2016 Feb;40(1):67-78. Epub 2016 Jan 8 doi: 10.1053/j.semperi.2015.11.009. PMID: 26777687
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195

Diagnosis

Alvo A, Villarroel G, Sedano C
Eur Arch Otorhinolaryngol 2021 Oct;278(10):3605-3611. Epub 2021 Jan 3 doi: 10.1007/s00405-020-06546-y. PMID: 33388986
Chummun S, McLean NR, Nugent M, Anderson PJ, David DJ
J Craniofac Surg 2012 Jul;23(4):986-90. doi: 10.1097/SCS.0b013e31824e2683. PMID: 22777437
Jain U, Thakur G, Kallury A
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4665. PMID: 22675013Free PMC Article
Almashraki N, Abdulnabee MZ, Sukalo M, Alrajoudi A, Sharafadeen I, Zenker M
World J Gastroenterol 2011 Oct 7;17(37):4247-50. doi: 10.3748/wjg.v17.i37.4247. PMID: 22072859Free PMC Article
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Therapy

Rohrich RJ, Novak M, Cason R, Trost J
Plast Reconstr Surg 2024 May 1;153(5):1052-1054. Epub 2023 May 24 doi: 10.1097/PRS.0000000000010747. PMID: 37224453
Jung DH, Jin SG, Hyun SM
Facial Plast Surg Clin North Am 2018 Aug;26(3):377-388. Epub 2018 Jun 7 doi: 10.1016/j.fsc.2018.03.011. PMID: 30005793
Kim L, Papel ID
Facial Plast Surg 2016 Feb;32(1):29-35. Epub 2016 Feb 10 doi: 10.1055/s-0035-1570127. PMID: 26862961
Wu PS, Hamilton GS 3rd
Facial Plast Surg 2016 Feb;32(1):22-8. Epub 2016 Feb 10 doi: 10.1055/s-0035-1570123. PMID: 26862960
Sykes JM, Kim JE, Shaye D, Boccieri A
Facial Plast Surg 2011 Oct;27(5):413-21. Epub 2011 Oct 25 doi: 10.1055/s-0031-1288928. PMID: 22028006

Prognosis

Esen E, Bayar Muluk N, Altintoprak N, Ipci K, Cingi C
J Laryngol Otol 2017 Jun;131(6):476-479. Epub 2017 Feb 27 doi: 10.1017/S0022215117000391. PMID: 28238296
Rao R, Platt LD
Semin Perinatol 2016 Feb;40(1):67-78. Epub 2016 Jan 8 doi: 10.1053/j.semperi.2015.11.009. PMID: 26777687
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720

Clinical prediction guides

Gatti JE
Plast Reconstr Surg 2023 Oct 1;152(4):765-772. Epub 2023 Mar 7 doi: 10.1097/PRS.0000000000010361. PMID: 36877617
Salsi V, Magdinier F, Tupler R
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030258. PMID: 32121044Free PMC Article
Boccieri A
Acta Otorhinolaryngol Ital 2013 Jun;33(3):163-8. PMID: 23853411Free PMC Article
Almashraki N, Abdulnabee MZ, Sukalo M, Alrajoudi A, Sharafadeen I, Zenker M
World J Gastroenterol 2011 Oct 7;17(37):4247-50. doi: 10.3748/wjg.v17.i37.4247. PMID: 22072859Free PMC Article
de Blécourt RA, Roddi R, Berg JP, Bloem JJ
Ann Plast Surg 1996 Dec;37(6):633-7. doi: 10.1097/00000637-199612000-00011. PMID: 8988777

Recent systematic reviews

Ni Chathasaigh CM, Davis PG, O'Donnell CP, McCarthy LK
Cochrane Database Syst Rev 2023 Oct 3;10(10):CD009102. doi: 10.1002/14651858.CD009102.pub2. PMID: 37787113Free PMC Article
Groff D, Sun A, Ssentongo AE, Ba DM, Parsons N, Poudel GR, Lekoubou A, Oh JS, Ericson JE, Ssentongo P, Chinchilli VM
JAMA Netw Open 2021 Oct 1;4(10):e2128568. doi: 10.1001/jamanetworkopen.2021.28568. PMID: 34643720Free PMC Article
Holm NH, Rusan M, Ovesen T
Dan Med J 2020 Oct 29;67(11) PMID: 33215607
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z
Cochrane Database Syst Rev 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. PMID: 28295158Free PMC Article
Wormald JC, Fishman JM, Juniat S, Tolley N, Birchall MA
J Laryngol Otol 2015 Aug;129(8):732-9. Epub 2015 Jun 24 doi: 10.1017/S0022215115001577. PMID: 26104952

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