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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

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
Senders CW
Facial Plast Surg Clin North Am 2001 Feb;9(1):27-35. PMID: 11465004

Recent clinical studies

Etiology

Steinberg B, Caccamese J Jr, Costello BJ, Woerner J
J Oral Maxillofac Surg 2017 Aug;75(8S):e126-e150. doi: 10.1016/j.joms.2017.04.031. PMID: 28728728
Gulasi S, Turhan AH, Celik Y, Atici A, Vayisoglu Y, Ünal M
J Craniofac Surg 2015 Oct;26(7):e602-3. doi: 10.1097/SCS.0000000000002048. PMID: 26468836
Senders CW
Facial Plast Surg Clin North Am 2001 Feb;9(1):27-35. PMID: 11465004
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195
de la Fuente A, Martin del Yerro JL
Aesthetic Plast Surg 1994 Fall;18(4):357-61. doi: 10.1007/BF00451340. PMID: 7817883

Diagnosis

Society for Maternal-Fetal Medicine, Benacerraf BR, Bromley B, Jelin AC
Am J Obstet Gynecol 2019 Nov;221(5):B6-B7. doi: 10.1016/j.ajog.2019.08.049. PMID: 31679594
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
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
Berry AC
J Med Genet 1987 Sep;24(9):562-6. doi: 10.1136/jmg.24.9.562. PMID: 3312608Free PMC Article
Gupta SP, Saxena RC
Br J Ophthalmol 1962 Oct;46(10):629-32. doi: 10.1136/bjo.46.10.629. PMID: 18170825Free PMC Article

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
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
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
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
Chan KY, Gilbert-Barness E, Tiller G
Pediatr Pathol Mol Med 2003 Jul-Aug;22(4):277-83. doi: 10.1080/pdp.22.4.277.283. PMID: 14692224

Prognosis

Fisher MD, Fisher DM, Marcus JR
Clin Plast Surg 2014 Apr;41(2):283-99. Epub 2014 Feb 18 doi: 10.1016/j.cps.2014.01.002. PMID: 24607195
Warner J, Adamson P
Facial Plast Surg 2011 Oct;27(5):442-55. Epub 2011 Oct 25 doi: 10.1055/s-0031-1288925. PMID: 22028009
Matsumura T, Hayashi A, Komuro Y
J Craniofac Surg 2010 May;21(3):808-10. doi: 10.1097/SCS.0b013e3181d879d8. PMID: 20485056
Jog SM, Patole SK, Whitehall JS
J Postgrad Med 2002 Apr-Jun;48(2):129-30. PMID: 12215698
Senders CW
Facial Plast Surg Clin North Am 2001 Feb;9(1):27-35. PMID: 11465004

Clinical prediction guides

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
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
Poje G, Zinreich JS, Skitarelić N, Đurić Vuković K, Passàli GC, Passàli D, Mladina R
Acta Otorhinolaryngol Ital 2014 Apr;34(2):117-22. PMID: 24843222Free PMC Article
Fisher MD, Fisher DM, Marcus JR
Clin Plast Surg 2014 Apr;41(2):283-99. Epub 2014 Feb 18 doi: 10.1016/j.cps.2014.01.002. PMID: 24607195
Malone FD, D'Alton ME; Society for Maternal-Fetal Medicine
Obstet Gynecol 2003 Nov;102(5 Pt 1):1066-79. doi: 10.1016/j.obstetgynecol.2003.08.004. PMID: 14672489

Recent systematic reviews

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
Souza DAS, Costa FWG, de Mendonça DS, Ribeiro EC, de Barros Silva PG, Neves FS
Oral Radiol 2024 Apr;40(2):124-137. Epub 2023 Dec 11 doi: 10.1007/s11282-023-00726-2. PMID: 38079051
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
Maestre-Ferrín L, Galán-Gil S, Rubio-Serrano M, Peñarrocha-Diago M, Peñarrocha-Oltra D
Med Oral Patol Oral Cir Bucal 2010 Mar 1;15(2):e383-6. doi: 10.4317/medoral.15.e383. PMID: 19767706

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