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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

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
Allam KA, Wan DC, Kawamoto HK, Bradley JP, Sedano HO, Saied S
Plast Reconstr Surg 2011 Feb;127(2):812-821. doi: 10.1097/PRS.0b013e318200aa08. PMID: 21285785
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195

Diagnosis

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
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
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
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
Stephan S, Wang TD
Facial Plast Surg 2012 Apr;28(2):177-86. Epub 2012 May 6 doi: 10.1055/s-0032-1309297. PMID: 22562567
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
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

Recent systematic reviews

Orellana-Donoso M, Romero-Zucchino D, Fuentes-Abarca A, Aravena-Ríos P, Sanchis-Gimeno J, Konschake M, Nova-Baeza P, Valenzuela-Fuenzalida JJ
Surg Radiol Anat 2024 Jul;46(7):1027-1046. Epub 2024 Apr 29 doi: 10.1007/s00276-024-03348-3. PMID: 38684553
Chiang H, Shah R, Washabaugh C, Frank-Ito DO
J Plast Reconstr Aesthet Surg 2024 May;92:48-60. Epub 2024 Feb 27 doi: 10.1016/j.bjps.2024.02.061. PMID: 38493539Free PMC Article
Komatsu H, Onoguchi G, Silverstein SM, Jerotic S, Sakuma A, Kanahara N, Kakuto Y, Ono T, Yabana T, Nakazawa T, Tomita H
Mol Psychiatry 2024 Feb;29(2):464-482. Epub 2023 Dec 11 doi: 10.1038/s41380-023-02340-4. PMID: 38081943Free PMC Article
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
Tsang CLN, Nguyen T, Sivesind T, Cervin A
Eur Arch Otorhinolaryngol 2018 May;275(5):1039-1048. Epub 2018 Jan 13 doi: 10.1007/s00405-018-4874-y. PMID: 29332171

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