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Unilateral external ear deformity

MedGen UID:
322330
Concept ID:
C1834043
Finding
Synonym: Deformed external ear on one side
 
HPO: HP:0008605

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnilateral external ear deformity

Conditions with this feature

Craniofacial microsomia 1
MedGen UID:
501171
Concept ID:
C3495417
Congenital Abnormality
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.

Professional guidelines

PubMed

Rosenfeld RM, Tunkel DE, Schwartz SR, Anne S, Bishop CE, Chelius DC, Hackell J, Hunter LL, Keppel KL, Kim AH, Kim TW, Levine JM, Maksimoski MT, Moore DJ, Preciado DA, Raol NP, Vaughan WK, Walker EA, Monjur TM
Otolaryngol Head Neck Surg 2022 Feb;166(1_suppl):S1-S55. doi: 10.1177/01945998211065662. PMID: 35138954
Mierzwiński J, Kosowska J, Tyra J, Haber K, Drela M, Paczkowski D, Burduk P
World J Surg Oncol 2018 Jan 15;16(1):5. doi: 10.1186/s12957-017-1302-5. PMID: 29335001Free PMC Article
Tunkel DE, Bauer CA, Sun GH, Rosenfeld RM, Chandrasekhar SS, Cunningham ER Jr, Archer SM, Blakley BW, Carter JM, Granieri EC, Henry JA, Hollingsworth D, Khan FA, Mitchell S, Monfared A, Newman CW, Omole FS, Phillips CD, Robinson SK, Taw MB, Tyler RS, Waguespack R, Whamond EJ
Otolaryngol Head Neck Surg 2014 Oct;151(2 Suppl):S1-S40. doi: 10.1177/0194599814545325. PMID: 25273878

Recent clinical studies

Etiology

Rosenfeld RM, Tunkel DE, Schwartz SR, Anne S, Bishop CE, Chelius DC, Hackell J, Hunter LL, Keppel KL, Kim AH, Kim TW, Levine JM, Maksimoski MT, Moore DJ, Preciado DA, Raol NP, Vaughan WK, Walker EA, Monjur TM
Otolaryngol Head Neck Surg 2022 Feb;166(1_suppl):S1-S55. doi: 10.1177/01945998211065662. PMID: 35138954
Tunkel DE, Bauer CA, Sun GH, Rosenfeld RM, Chandrasekhar SS, Cunningham ER Jr, Archer SM, Blakley BW, Carter JM, Granieri EC, Henry JA, Hollingsworth D, Khan FA, Mitchell S, Monfared A, Newman CW, Omole FS, Phillips CD, Robinson SK, Taw MB, Tyler RS, Waguespack R, Whamond EJ
Otolaryngol Head Neck Surg 2014 Oct;151(2 Suppl):S1-S40. doi: 10.1177/0194599814545325. PMID: 25273878
van Nunen DP, Kolodzynski MN, van den Boogaard MJ, Kon M, Breugem CC
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):954-9. Epub 2014 Mar 30 doi: 10.1016/j.ijporl.2014.03.024. PMID: 24745583
Toplu Y, Sapmaz E, Toplu SA, Deliktas H
Eur Arch Otorhinolaryngol 2014 Jul;271(7):1885-9. Epub 2013 Aug 31 doi: 10.1007/s00405-013-2677-8. PMID: 23995707
Schuknecht HF
Laryngoscope 1989 Sep;99(9):908-17. doi: 10.1288/00005537-198909000-00004. PMID: 2770382

Diagnosis

Verma H, Verma PK, Rajvanshi N, Bhat NK
BMJ Case Rep 2024 Mar 12;17(3) doi: 10.1136/bcr-2023-256740. PMID: 38471700Free PMC Article
Rosenfeld RM, Tunkel DE, Schwartz SR, Anne S, Bishop CE, Chelius DC, Hackell J, Hunter LL, Keppel KL, Kim AH, Kim TW, Levine JM, Maksimoski MT, Moore DJ, Preciado DA, Raol NP, Vaughan WK, Walker EA, Monjur TM
Otolaryngol Head Neck Surg 2022 Feb;166(1_suppl):S1-S55. doi: 10.1177/01945998211065662. PMID: 35138954
Tunkel DE, Bauer CA, Sun GH, Rosenfeld RM, Chandrasekhar SS, Cunningham ER Jr, Archer SM, Blakley BW, Carter JM, Granieri EC, Henry JA, Hollingsworth D, Khan FA, Mitchell S, Monfared A, Newman CW, Omole FS, Phillips CD, Robinson SK, Taw MB, Tyler RS, Waguespack R, Whamond EJ
Otolaryngol Head Neck Surg 2014 Oct;151(2 Suppl):S1-S40. doi: 10.1177/0194599814545325. PMID: 25273878
van Nunen DP, Kolodzynski MN, van den Boogaard MJ, Kon M, Breugem CC
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):954-9. Epub 2014 Mar 30 doi: 10.1016/j.ijporl.2014.03.024. PMID: 24745583
Service GJ, Roberson JB Jr
Curr Opin Otolaryngol Head Neck Surg 2010 Dec;18(6):536-8. doi: 10.1097/MOO.0b013e32833feb26. PMID: 20885327

Therapy

Sun H, Sun P, Jiang H, Yang Q, Li T, Pan B
Sci Rep 2022 Mar 16;12(1):4521. doi: 10.1038/s41598-022-08596-0. PMID: 35296747Free PMC Article
Eser C, Kerem M, Olguner AA, Gencel E, Kesiktas E
Int J Oral Maxillofac Surg 2015 Mar;44(3):374-6. Epub 2015 Jan 3 doi: 10.1016/j.ijom.2014.12.006. PMID: 25563526
Oberg M, Svensson H, Björk C, Flodin J, Wikström SO
J Plast Surg Hand Surg 2013 Sep;47(4):317-9. Epub 2013 Apr 3 doi: 10.3109/2000656X.2013.766886. PMID: 23547537
de Alarcon A, Choo DI
Curr Opin Otolaryngol Head Neck Surg 2007 Oct;15(5):310-4. doi: 10.1097/MOO.0b013e3282f005d2. PMID: 17823545
Maniglia AJ, Maniglia JJ, Witten BR
Laryngoscope 1977 Aug;87(8):1359-68. doi: 10.1288/00005537-197708000-00014. PMID: 329023

Prognosis

Szychta P, Stewart KJ
Ann Plast Surg 2013 Nov;71(5):522-7. doi: 10.1097/SAP.0b013e3182503c38. PMID: 23221973
Fu Y, Zhang T
Int J Pediatr Otorhinolaryngol 2011 Apr;75(4):597-9. Epub 2011 Feb 1 doi: 10.1016/j.ijporl.2011.01.001. PMID: 21281971
Liu Y, Kadlub N, da Silva Freitas R, Persing JA, Duncan C, Shin JH
J Craniofac Surg 2008 Jan;19(1):132-6. doi: 10.1097/SCS.0b013e3181655314. PMID: 18216678
Elliott WJ, Powell LH
Am J Med 1996 Feb;100(2):205-11. doi: 10.1016/s0002-9343(97)89460-0. PMID: 8629656
Joseph VT, Jacobsen AS
Aust N Z J Surg 1995 Apr;65(4):254-6. doi: 10.1111/j.1445-2197.1995.tb00623.x. PMID: 7717944

Clinical prediction guides

Volgger V, Schießler IT, Müller J, Schrötzlmair F, Pollotzek M, Hempel JM
Eur Arch Otorhinolaryngol 2022 May;279(5):2345-2352. Epub 2021 Jun 26 doi: 10.1007/s00405-021-06938-8. PMID: 34173875Free PMC Article
Oberg M, Svensson H, Björk C, Flodin J, Wikström SO
J Plast Surg Hand Surg 2013 Sep;47(4):317-9. Epub 2013 Apr 3 doi: 10.3109/2000656X.2013.766886. PMID: 23547537
Szychta P, Stewart KJ
Ann Plast Surg 2013 Nov;71(5):522-7. doi: 10.1097/SAP.0b013e3182503c38. PMID: 23221973
Elliott WJ, Powell LH
Am J Med 1996 Feb;100(2):205-11. doi: 10.1016/s0002-9343(97)89460-0. PMID: 8629656
Joseph VT, Jacobsen AS
Aust N Z J Surg 1995 Apr;65(4):254-6. doi: 10.1111/j.1445-2197.1995.tb00623.x. PMID: 7717944

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