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Abnormal nasal morphology

MedGen UID:
870795
Concept ID:
C4025252
Anatomical Abnormality
Synonyms: Abnormal nose morphology; Abnormal of morphology of nose; Abnormal of nasal shape; Abnormal of shape of nose
 
HPO: HP:0005105

Term Hierarchy

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

Conditions with this feature

Ablepharon macrostomia syndrome
MedGen UID:
395439
Concept ID:
C1860224
Disease or Syndrome
Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015).

Professional guidelines

PubMed

Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
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
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738

Recent clinical studies

Etiology

Chapchay K, Zaga J, Billig A, Adler N, Margulis A
Ann Plast Surg 2019 Mar;82(3):289-291. doi: 10.1097/SAP.0000000000001688. PMID: 30562204
Rajan R, Tunkel DE
Clin Perinatol 2018 Dec;45(4):751-767. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.011. PMID: 30396416
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
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

Diagnosis

Rajan R, Tunkel DE
Clin Perinatol 2018 Dec;45(4):751-767. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.011. PMID: 30396416
Martin S, Hogan E, Sorenson EP, Cohen-Gadol AA, Tubbs RS, Loukas M
Childs Nerv Syst 2013 Jun;29(6):885-91. Epub 2013 Jan 25 doi: 10.1007/s00381-012-1989-0. PMID: 23354442
Jain U, Thakur G, Kallury A
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4665. PMID: 22675013Free 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
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720

Therapy

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
Jankowski R, Nguyen DT, Gallet P, Rumeau C
Eur Ann Otorhinolaryngol Head Neck Dis 2018 Dec;135(6):437-441. Epub 2018 Jun 20 doi: 10.1016/j.anorl.2018.05.008. PMID: 29934261
Maniglia CP, Maniglia JV
Braz J Otorhinolaryngol 2017 Jul-Aug;83(4):416-419. Epub 2016 May 31 doi: 10.1016/j.bjorl.2016.04.019. PMID: 27339699Free PMC Article
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
Mitchell C, Oeltjen J, Panthaki Z, Thaller SR
J Craniofac Surg 2007 Jul;18(4):756-65. doi: 10.1097/scs.0b013e3180684360. PMID: 17667661

Prognosis

Rajan R, Tunkel DE
Clin Perinatol 2018 Dec;45(4):751-767. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.011. PMID: 30396416
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
Matsumura T, Hayashi A, Komuro Y
J Craniofac Surg 2010 May;21(3):808-10. doi: 10.1097/SCS.0b013e3181d879d8. PMID: 20485056
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720

Clinical prediction guides

Peña-Melián Á, Cabello-de la Rosa JP, Gallardo-Alcañiz MJ, Vaamonde-Gamo J, Relea-Calatayud F, González-López L, Villanueva-Anguita P, Flores-Cuadrado A, Saiz-Sánchez D, Martínez-Marcos A
Anat Rec (Hoboken) 2019 Mar;302(3):394-404. Epub 2018 May 17 doi: 10.1002/ar.23826. PMID: 29663690
Cerkes N
Clin Plast Surg 2016 Jan;43(1):135-50. doi: 10.1016/j.cps.2015.09.011. PMID: 26616702
Funamura JL, Sykes JM
Facial Plast Surg Clin North Am 2014 Nov;22(4):503-8. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.07.005. PMID: 25444724
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
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

Recent systematic reviews

Hajem H, Botter C, Al Omani M, Sounthakith V, de Bressieux E, Benkhatar H
Otolaryngol Head Neck Surg 2021 Nov;165(5):745-750. Epub 2021 Mar 2 doi: 10.1177/0194599821994739. PMID: 33648407
Pfaff MJ, Bertrand AA, Lipman KJ, Shah A, Nolan I, Krishna V, Patel H, Roostaeian J, Lee JC
Plast Reconstr Surg 2021 Mar 1;147(3):707-718. doi: 10.1097/PRS.0000000000007667. PMID: 33620941
Adil EA, Kawai K, Dombrowski N, Irace AL, Cunningham MJ
Laryngoscope 2017 Jan;127(1):6-13. Epub 2016 Jun 16 doi: 10.1002/lary.26070. PMID: 27312809
Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, Serrera-Figallo MÁ, Rodríguez-Caballero Á, Machuca-Portillo G
Clin Anat 2016 Jul;29(5):555-60. Epub 2015 Dec 21 doi: 10.1002/ca.22654. PMID: 26457586
Aziz T, Biron VL, Ansari K, Flores-Mir C
J Otolaryngol Head Neck Surg 2014 Apr 24;43(1):11. doi: 10.1186/1916-0216-43-11. PMID: 24762010Free PMC Article

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