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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormality of the nose

Phenotypic abnormality
- Abnormality of head or neck
  - Abnormality of the head
    - Abnormality of the face
      - Abnormality of the nose
        Abnormal nasal morphology
        Abnormal choanae morphology
        Choanal atresia
        Choanal stenosis
        Abnormal external nose morphology
        Abnormal columella morphology
        Abnormal morphology of the nasal alae
        Abnormal nasal cartilage morphology
        Abnormal nasal dorsum morphology
        Abnormal nasal tip morphology
        Abnormal nasal base norphology
        Narrow nasal base
        Wide nasal base
        Abnormal nasal bridge morphology
        Absent nasal bridge
        Depressed nasal bridge
        Hypoplastic nasal bridge
        Long nasal bridge
        Narrow nasal bridge
        Prominent nasal bridge
        Short nasal bridge
        Wide nasal bridge
        Abnormal nasal cavity morphology
        Abnormality of the midnasal cavity
        Intranasal mass
        Abnormal nasal hair morphology
        Abnormal nasal mucosa morphology
        Nasal dryness
        Nasal mucosa vasculitis
        Nasal polyposis
        Nasal ulcer
        Abnormal nasal septum morphology
        Deviated nasal septum
        Narrow nasal septum
        Nasal septum perforation
        Prominent nasal septum
        Short nasal septum
        Thick nasal septum
        Abnormal nostril morphology
        Absent nares
        Anteverted nares
        Asymmetry of the nares
        Enlarged naris
        Narrow naris
        Single naris
        Supernumerary naris
        Aplasia/Hypoplasia involving the nose
        Aplasia of the nose
        Aplasia/Hypoplasia of the nasal septum
        Underdeveloped nasal alae
        Fractured nose
        Fullness of paranasal tissue
        Bony paranasal bossing
        Long nose
        Midline defect of the nose
        Bifid nose
        Midline nasal groove
        Narrow nose
        Nasal dermoid cyst
        Pear-shaped nose
        Proboscis
        Prominent nose
        Pyriform aperture stenosis
        Short nose
        Slender nose
        Wide nose
        Abnormal nasolabial region morphology
        Prominent nasolabial fold
        Underdeveloped nasolabial fold
        Nasal congestion
        Rhinitis
        Allergic rhinitis
        Atopic Rhinitis
        Perennial allergic rhinitis
        Seasonal allergy
        Atrophic rhinitis
        Chronic rhinitis
        Chronic rhinitis due to narrow nasal airway
        Purulent rhinitis
        Common cold
        Vasomotor rhinitis

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.

See: Condition Record

Holoprosencephaly 3

Professional guidelines

PubMed

The Immunological Basis of Dry Eye Disease and Current Topical Treatment Options.

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: 32175799 Free PMC Article

Clinical Practice Guideline: Nosebleed (Epistaxis).

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

Multiorgan involvement and management in children with Down syndrome.

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

See all (386)

Recent clinical studies

Etiology

Choanal Atresia and Other Neonatal Nasal Anomalies.

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

Cleft and Craniofacial Surgery.

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

Pre-surgical nasoalveolar molding technique: a literature review.

Manosudprasit M, Wangsrimongkol T, Pisek P, Wiwatworakul O
J Med Assoc Thai 2014 Oct;97 Suppl 10:S17-24. PMID: 25816533

The Arrhinias.

Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Lateral facial asymmetry-methods of assessment.

Sutton PR
Angle Orthod 1968 Jan;38(1):82-92. doi: 10.1043/0003-3219(1968)038<0082:LFAMOA>2.0.CO;2. PMID: 5236055

See all (4352)

Diagnosis

Choanal Atresia and Other Neonatal Nasal Anomalies.

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

Johanson-blizzard syndrome.

Godbole K, Maja S, Leena H, Martin Z
Indian Pediatr 2013 May 8;50(5):510-2. PMID: 23778732

Progeria.

Mohamed Riyaz SS, Jayachandran S
Indian J Dent Res 2009 Oct-Dec;20(4):508-10. doi: 10.4103/0970-9290.59442. PMID: 20139583

Rubinstein-Taybi syndrome.

Berry AC
J Med Genet 1987 Sep;24(9):562-6. doi: 10.1136/jmg.24.9.562. PMID: 3312608 Free PMC Article

CRYPTOPHTHALMOS.

Gupta SP, Saxena RC
Br J Ophthalmol 1962 Oct;46(10):629-32. doi: 10.1136/bjo.46.10.629. PMID: 18170825 Free PMC Article

See all (4077)

Therapy

Extreme preterm neonate with fetal warfarin syndrome.

Birbal R, Olaniyi O, Clarke P
Arch Dis Child Fetal Neonatal Ed 2023 May;108(3):293-294. Epub 2021 Dec 23 doi: 10.1136/archdischild-2021-323295. PMID: 34949636

Facial Cosmetic Surgery.

Perenack J, Haggerty C, Webb D, Will M
J Oral Maxillofac Surg 2017 Aug;75(8S):e302-e323. doi: 10.1016/j.joms.2017.04.029. PMID: 28728734

Cleft and Craniofacial Surgery.

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

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

Cyclopia.

Khudr G, Olding L
Am J Dis Child 1973 Jan;125(1):120-2. doi: 10.1001/archpedi.1973.04160010082020. PMID: 4630624

See all (1481)

Prognosis

Total Nasal Reconstruction With Prefabricated and Prelaminated Free Flap.

Cavadas PC, Torres A
Ann Plast Surg 2019 Dec;83(6):e35-e38. doi: 10.1097/SAP.0000000000002077. PMID: 31714295

Choanal Atresia and Other Neonatal Nasal Anomalies.

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

Nasopalpebral lipoma coloboma syndrome.

Babu NS, Raviprakash D, Kumar R
Indian J Ophthalmol 2011 Sep-Oct;59(5):379-80. doi: 10.4103/0301-4738.83615. PMID: 21836344 Free PMC Article

Fryns syndrome.

Jog SM, Patole SK, Whitehall JS
J Postgrad Med 2002 Apr-Jun;48(2):129-30. PMID: 12215698

RARE CLEFTS OF THE FACE.

FOGH-ANDERSEN P
Acta Chir Scand 1965 Mar;129:275-81. PMID: 14339244

See all (2122)

Clinical prediction guides

Lip-Shortening Surgery.

Gatti JE
Plast Reconstr Surg 2023 Oct 1;152(4):765-772. Epub 2023 Mar 7 doi: 10.1097/PRS.0000000000010361. PMID: 36877617

Pediatric septorhinoplasty.

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

Teebi hypertelorism syndrome: additional cases.

Machado-Paula LA, Guion-Almeida ML
Am J Med Genet A 2003 Mar 1;117A(2):181-3. doi: 10.1002/ajmg.a.10919. PMID: 12567419

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

Transseptal repair of unilateral choanal atresia.

Hall WJ, Watanabe T, Kenan PD, Baylin G
Arch Otolaryngol 1982 Oct;108(10):659-61. doi: 10.1001/archotol.1982.00790580053017. PMID: 7126024

See all (2393)

Recent systematic reviews

Nasal interfaces for neonatal resuscitation.

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: 37787113 Free PMC Article

Risk Factors for the Recurrence of Benign Paroxysmal Positional Vertigo: A Systematic Review and Meta-Analysis.

Li S, Wang Z, Liu Y, Cao J, Zheng H, Jing Y, Han L, Ma X, Xia R, Yu L
Ear Nose Throat J 2022 Mar;101(3):NP112-NP134. Epub 2020 Aug 10 doi: 10.1177/0145561320943362. PMID: 32776833

Acute otitis media and antibiotics - a systematic review.

Holm NH, Rusan M, Ovesen T
Dan Med J 2020 Oct 29;67(11) PMID: 33215607

First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.

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: 28295158 Free PMC Article

Regenerative medicine in otorhinolaryngology.

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

See all (89)

MedGen

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Abnormality of the nose

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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