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Tracheal cartilaginous sleeve

MedGen UID:
1813071
Concept ID:
C5676597
Congenital Abnormality
HPO: HP:0005347

Definition

Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. [from HPO]

Term Hierarchy

Conditions with this feature

Pfeiffer syndrome
MedGen UID:
67390
Concept ID:
C0220658
Disease or Syndrome
Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

Professional guidelines

PubMed

Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC, Perkins JA, Dahl JP
Laryngoscope 2022 Jan;132(1):215-221. Epub 2021 Jun 16 doi: 10.1002/lary.29692. PMID: 34133757
Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP
Laryngoscope 2021 Apr;131(4):E1349-E1356. Epub 2020 Sep 4 doi: 10.1002/lary.29060. PMID: 32886384Free PMC Article

Recent clinical studies

Etiology

Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC, Perkins JA, Dahl JP
Laryngoscope 2022 Jan;132(1):215-221. Epub 2021 Jun 16 doi: 10.1002/lary.29692. PMID: 34133757
Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP
Laryngoscope 2021 Apr;131(4):E1349-E1356. Epub 2020 Sep 4 doi: 10.1002/lary.29060. PMID: 32886384Free PMC Article
Pickrell BB, Meaike JD, Cañadas KT, Chandy BM, Buchanan EP
J Craniofac Surg 2017 May;28(3):696-699. doi: 10.1097/SCS.0000000000003489. PMID: 28468151
Wenger TL, Dahl J, Bhoj EJ, Rosen A, McDonald-McGinn D, Zackai E, Jacobs I, Heike CL, Hing A, Santani A, Inglis AF, Sie KC, Cunningham M, Perkins J
Genet Med 2017 Jan;19(1):62-68. Epub 2016 May 26 doi: 10.1038/gim.2016.60. PMID: 27228464Free PMC Article
Hockstein NG, McDonald-McGinn D, Zackai E, Bartlett S, Huff DS, Jacobs IN
Arch Otolaryngol Head Neck Surg 2004 Nov;130(11):1298-302. doi: 10.1001/archotol.130.11.1298. PMID: 15545585

Diagnosis

Nicholas GE, Dahl JP, Otjen JP, Richardson CM
Otolaryngol Head Neck Surg 2023 Oct;169(4):1080-1082. Epub 2023 Mar 8 doi: 10.1002/ohn.316. PMID: 36883989Free PMC Article
Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC, Perkins JA, Dahl JP
Laryngoscope 2022 Jan;132(1):215-221. Epub 2021 Jun 16 doi: 10.1002/lary.29692. PMID: 34133757
Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP
Laryngoscope 2021 Apr;131(4):E1349-E1356. Epub 2020 Sep 4 doi: 10.1002/lary.29060. PMID: 32886384Free PMC Article
Pickrell BB, Meaike JD, Cañadas KT, Chandy BM, Buchanan EP
J Craniofac Surg 2017 May;28(3):696-699. doi: 10.1097/SCS.0000000000003489. PMID: 28468151
Lin SY, Chen JC, Hotaling AJ, Holinger LD
Laryngoscope 1995 Nov;105(11):1213-9. doi: 10.1288/00005537-199511000-00014. PMID: 7475878

Therapy

Gadgil N, Pan IW, Babalola S, Lam S
J Craniofac Surg 2018 Sep;29(6):1546-1550. doi: 10.1097/SCS.0000000000004654. PMID: 29877982
Lertsburapa K, Schroeder JW Jr, Sullivan C
J Pediatr Surg 2010 Jul;45(7):1438-44. doi: 10.1016/j.jpedsurg.2009.09.005. PMID: 20638521

Prognosis

Seki E, Enomoto K, Tanoue K, Tanaka M, Kurosawa K
Congenit Anom (Kyoto) 2020 May;60(3):97-99. Epub 2019 Aug 9 doi: 10.1111/cga.12352. PMID: 31373082
Pickrell BB, Meaike JD, Cañadas KT, Chandy BM, Buchanan EP
J Craniofac Surg 2017 May;28(3):696-699. doi: 10.1097/SCS.0000000000003489. PMID: 28468151
Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH
Am J Med Genet A 2015 Apr;167A(4):852-7. Epub 2015 Feb 23 doi: 10.1002/ajmg.a.36985. PMID: 25706251
Scheid SC, Spector AR, Luft JD
Int J Pediatr Otorhinolaryngol 2002 Sep 2;65(2):147-52. doi: 10.1016/s0165-5876(02)00132-5. PMID: 12176186
Lin SY, Chen JC, Hotaling AJ, Holinger LD
Laryngoscope 1995 Nov;105(11):1213-9. doi: 10.1288/00005537-199511000-00014. PMID: 7475878

Clinical prediction guides

Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP
Laryngoscope 2021 Apr;131(4):E1349-E1356. Epub 2020 Sep 4 doi: 10.1002/lary.29060. PMID: 32886384Free PMC Article
Gadgil N, Pan IW, Babalola S, Lam S
J Craniofac Surg 2018 Sep;29(6):1546-1550. doi: 10.1097/SCS.0000000000004654. PMID: 29877982
Pickrell BB, Meaike JD, Cañadas KT, Chandy BM, Buchanan EP
J Craniofac Surg 2017 May;28(3):696-699. doi: 10.1097/SCS.0000000000003489. PMID: 28468151
Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853

Recent systematic reviews

Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853

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