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Aural atresia, congenital(CAA)

MedGen UID:
375051
Concept ID:
C1842937
Disease or Syndrome
Synonyms: AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA; CAA
 
Gene (location): TSHZ1 (18q22.3)
 
Monarch Initiative: MONDO:0011921
OMIM®: 607842

Definition

Altmann (1955) was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years (Cremers et al., 1988; Schuknecht, 1989; Jahrsdoerfer et al., 1992). In CAA type I, there is bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity (summary by Feenstra et al., 2011). [from OMIM]

Clinical features

From HPO
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Atresia of the external auditory canal
MedGen UID:
78613
Concept ID:
C0266597
Congenital Abnormality
Absence or failure to form of the external auditory canal.
Hyposmia
MedGen UID:
473584
Concept ID:
C2364082
Finding
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).

Professional guidelines

PubMed

Zhang TY, Bulstrode N, Chang KW, Cho YS, Frenzel H, Jiang D, Kesser BW, Siegert R, Triglia JM
J Int Adv Otol 2019 Aug;15(2):204-208. doi: 10.5152/iao.2019.7383. PMID: 31418720Free PMC Article
Dougherty W, Kesser BW
Otolaryngol Clin North Am 2015 Dec;48(6):955-74. Epub 2015 Sep 8 doi: 10.1016/j.otc.2015.06.007. PMID: 26360369
Declau F, Cremers C, Van de Heyning P
Br J Audiol 1999 Oct;33(5):313-27. doi: 10.3109/03005369909090115. PMID: 10890146

Recent clinical studies

Etiology

Kalmanson O, Francom C, Darr O, Hamilton S
Am J Otolaryngol 2023 Nov-Dec;44(6):103986. Epub 2023 Jul 6 doi: 10.1016/j.amjoto.2023.103986. PMID: 37459737Free PMC Article
Chan CY, Karmali SA, Arulanandam B, Nguyen LHP, Duval M
Otolaryngol Head Neck Surg 2023 Sep;169(3):449-453. Epub 2022 Apr 18 doi: 10.1177/01945998221094230. PMID: 35439089
Kim MB, Cho YS
J Int Adv Otol 2022 Nov;18(6):482-487. doi: 10.5152/iao.2022.21514. PMID: 36349669Free PMC Article
Casazza GC, Jonas RH, Kesser BW
Otol Neurotol 2022 Mar 1;43(3):320-327. doi: 10.1097/MAO.0000000000003440. PMID: 34889827
van Hövell Tot Westerflier CVA, van Heteren JAA, Breugem CC, Smit AL, Stegeman I
Int J Pediatr Otorhinolaryngol 2018 Nov;114:175-179. Epub 2018 Sep 8 doi: 10.1016/j.ijporl.2018.09.002. PMID: 30262360

Diagnosis

Morrison D, Kesser B
Otolaryngol Clin North Am 2023 Oct;56(5):933-948. Epub 2023 Aug 1 doi: 10.1016/j.otc.2023.06.007. PMID: 37537101
Kalmanson O, Francom C, Darr O, Hamilton S
Am J Otolaryngol 2023 Nov-Dec;44(6):103986. Epub 2023 Jul 6 doi: 10.1016/j.amjoto.2023.103986. PMID: 37459737Free PMC Article
Chan CY, Karmali SA, Arulanandam B, Nguyen LHP, Duval M
Otolaryngol Head Neck Surg 2023 Sep;169(3):449-453. Epub 2022 Apr 18 doi: 10.1177/01945998221094230. PMID: 35439089
Zhang L, Gao N, Yin Y, Yang L, Xie Y, Chen Y, Dai P, Zhang T
Eur Arch Otorhinolaryngol 2016 Jul;273(7):1697-703. Epub 2015 Jul 24 doi: 10.1007/s00405-015-3727-1. PMID: 26205153
Li C, Zhang T, Fu Y, Qing F, Chi F
Int J Audiol 2014 Jul;53(7):476-81. doi: 10.3109/14992027.2014.890295. PMID: 24909697

Therapy

Wang D, Ren R, Chen P, Yang J, Gao M, Liu Y, Zhao S
Acta Otolaryngol 2021 Feb;141(2):129-134. Epub 2020 Nov 3 doi: 10.1080/00016489.2020.1832702. PMID: 33140681
Li CL, Dai PD, Yang L, Zhang TY
Int J Pediatr Otorhinolaryngol 2015 Jun;79(6):793-797. Epub 2015 Apr 9 doi: 10.1016/j.ijporl.2015.03.032. PMID: 25912684
Chen J, Liang H, Wang Y, Yu Y
Eur Arch Otorhinolaryngol 2015 Apr;272(4):835-838. Epub 2014 Jan 18 doi: 10.1007/s00405-014-2888-7. PMID: 24442665
Li C, Zhang T, Fu Y, Qing F, Chi F
Int J Audiol 2014 Jul;53(7):476-81. doi: 10.3109/14992027.2014.890295. PMID: 24909697
Saylisoy S, Incesulu A, Kaya E, Pinarbasli O, Adapinar B
J Comput Assist Tomogr 2014 May-Jun;38(3):461-3. doi: 10.1097/RCT.0000000000000060. PMID: 24681859

Prognosis

Pellinen J, Vasama JP, Kivekäs I
Acta Otolaryngol 2018 Jul;138(7):621-624. Epub 2018 Feb 9 doi: 10.1080/00016489.2018.1431402. PMID: 29426271
Li CL, Chen Y, Chen YZ, Fu YY, Zhang TY
Sci Rep 2016 Jun 3;6:27063. doi: 10.1038/srep27063. PMID: 27257165Free PMC Article
Zhao S, Han D, Wang Z, Li J, Qian Y, Ren Y, Dong J
Ear Nose Throat J 2015 Oct-Nov;94(10-11):E6-13. PMID: 26535838
Edfeldt L, Strömbäck K
Acta Otolaryngol 2015 Mar;135(3):226-32. Epub 2015 Jan 27 doi: 10.3109/00016489.2014.979437. PMID: 25625335
Balaker AE, Roberson JB Jr, Goldsztein H
Otolaryngol Head Neck Surg 2014 Apr;150(4):673-6. Epub 2014 Jan 21 doi: 10.1177/0194599813519745. PMID: 24449795

Clinical prediction guides

Alshalan A, Alzhrani F
Eur Arch Otorhinolaryngol 2024 Jun;281(6):2849-2859. Epub 2024 Apr 22 doi: 10.1007/s00405-024-08629-6. PMID: 38647685
Yang L, Chen P, Liu Y, Yang J, Zhao S
J Otolaryngol Head Neck Surg 2023 Mar 8;52(1):24. doi: 10.1186/s40463-022-00615-4. PMID: 36882877Free PMC Article
Alzhrani F, Alhabib SF, Yousef M
Acta Otorhinolaryngol Ital 2022 Apr;42(2):182-188. doi: 10.14639/0392-100X-N1668. PMID: 35612511Free PMC Article
van Hövell Tot Westerflier CVA, van Heteren JAA, Breugem CC, Smit AL, Stegeman I
Int J Pediatr Otorhinolaryngol 2018 Nov;114:175-179. Epub 2018 Sep 8 doi: 10.1016/j.ijporl.2018.09.002. PMID: 30262360
Li C, Zhang T, Fu Y, Qing F, Chi F
Int J Audiol 2014 Jul;53(7):476-81. doi: 10.3109/14992027.2014.890295. PMID: 24909697

Recent systematic reviews

Alshalan A, Alzhrani F
Eur Arch Otorhinolaryngol 2024 Jun;281(6):2849-2859. Epub 2024 Apr 22 doi: 10.1007/s00405-024-08629-6. PMID: 38647685
Shannon CM, Gutierrez JA 3rd, Nguyen SA, Meyer TA, Lambert PR
Otol Neurotol 2023 Sep 1;44(8):758-766. Epub 2023 Jul 18 doi: 10.1097/MAO.0000000000003950. PMID: 37464461
Chan CY, Karmali SA, Arulanandam B, Nguyen LHP, Duval M
Otolaryngol Head Neck Surg 2023 Sep;169(3):449-453. Epub 2022 Apr 18 doi: 10.1177/01945998221094230. PMID: 35439089
van Hövell Tot Westerflier CVA, van Heteren JAA, Breugem CC, Smit AL, Stegeman I
Int J Pediatr Otorhinolaryngol 2018 Nov;114:175-179. Epub 2018 Sep 8 doi: 10.1016/j.ijporl.2018.09.002. PMID: 30262360
Nadaraja GS, Gurgel RK, Kim J, Chang KW
Otol Neurotol 2013 Oct;34(8):1394-9. doi: 10.1097/MAO.0b013e3182a36065. PMID: 24005171

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