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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
Ors S
J Craniofac Surg 2020 Jul-Aug;31(5):1408-1411. doi: 10.1097/SCS.0000000000006489. PMID: 32310890
Raunig H, Hamilton GS 3rd
Ann Otol Rhinol Laryngol 2020 Jan;129(1):63-69. Epub 2019 Sep 10 doi: 10.1177/0003489419875160. PMID: 31502854
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
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Diagnosis

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
Bartel-Friedrich S
Facial Plast Surg 2015 Dec;31(6):567-80. Epub 2015 Dec 14 doi: 10.1055/s-0035-1568139. PMID: 26667631
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
Crummer RW, Hassan GA
Am Fam Physician 2004 Jan 1;69(1):120-6. PMID: 14727828
Jahrsdoerfer RA
Laryngoscope 1978 Sep;88(9 Pt 3 Suppl 13):1-48. PMID: 355751

Therapy

Kim M, Kim YJ, Kim YS, Roh TS, Lee EJ, Shim JH, Kang EH, Kim MJ, Yun IS
Yonsei Med J 2024 Aug;65(8):456-462. doi: 10.3349/ymj.2023.0444. PMID: 39048321Free PMC Article
Braun T, Hempel JM, Berghaus A
Dtsch Arztebl Int 2014 Feb 7;111(6):92-8. doi: 10.3238/arztebl.2014.0092. PMID: 24622605Free PMC Article
de Alarcon A, Choo DI
Curr Opin Otolaryngol Head Neck Surg 2007 Oct;15(5):310-4. doi: 10.1097/MOO.0b013e3282f005d2. PMID: 17823545
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Maniglia AJ, Maniglia JJ, Witten BR
Laryngoscope 1977 Aug;87(8):1359-68. doi: 10.1288/00005537-197708000-00014. PMID: 329023

Prognosis

Ogawa T, Xue J, Guo L, Inoue-Arai MS, Vendramini-Pittoli S, Zechi-Ceide RM, Candido-Souza RM, Tonello C, Brandão MM, Ozawa TO, Peixoto AP, Ruiz DMCF, Nakashima T, Ikegawa S, Moriyama K, Kokitsu-Nakata NM
Am J Med Genet A 2024 Sep;194(9):e63631. Epub 2024 Apr 22 doi: 10.1002/ajmg.a.63631. PMID: 38647383
Weitzman RE, Feng AL, Justicz N, Gadkaree SK, Lindsay RW
Facial Plast Surg 2020 Aug;36(4):487-492. Epub 2020 Jul 27 doi: 10.1055/s-0040-1714265. PMID: 32717763
Markey J, Mace J, Anderson Y, Wang TD
JAMA Facial Plast Surg 2018 Jan 1;20(1):57-62. doi: 10.1001/jamafacial.2017.1139. PMID: 29167864Free PMC Article
Sauerhammer TM, Patel K, Oh AK, Proctor MR, Mulliken JB, Rogers GF
J Craniofac Surg 2014 Mar;25(2):437-40. doi: 10.1097/01.scs.0000436674.59196.cd. PMID: 24448523
Grayson S, Oberg M, Becker M, Wollmer P, Svensson H, Wikström SO
J Plast Surg Hand Surg 2013 Sep;47(4):313-6. Epub 2013 Apr 3 doi: 10.3109/2000656X.2013.766616. PMID: 23547538

Clinical prediction guides

Ors S
J Craniofac Surg 2020 Jul-Aug;31(5):1408-1411. doi: 10.1097/SCS.0000000000006489. PMID: 32310890
Tang C, Zhang J, Yang S, Han D, Han W
Eur Arch Otorhinolaryngol 2018 Oct;275(10):2467-2472. Epub 2018 Aug 24 doi: 10.1007/s00405-018-5099-9. PMID: 30159731
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
Markey J, Mace J, Anderson Y, Wang TD
JAMA Facial Plast Surg 2018 Jan 1;20(1):57-62. doi: 10.1001/jamafacial.2017.1139. PMID: 29167864Free PMC Article
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

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