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Abnormal tracheal morphology

MedGen UID:
892789
Concept ID:
C4025678
Anatomical Abnormality
Synonym: Abnormality of the trachea
 
HPO: HP:0002778
Monarch Initiative: MONDO:0002567

Definition

A structural anomaly of the trachea. [from HPO]

Conditions with this feature

Congenital laryngomalacia
MedGen UID:
120500
Concept ID:
C0264303
Anatomical Abnormality
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Hennekam lymphangiectasia-lymphedema syndrome 2
MedGen UID:
863376
Concept ID:
C4014939
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).

Professional guidelines

PubMed

Bertolin J, Sánchez V, Ribera A, Jaén ML, Garcia M, Pujol A, Sánchez X, Muñoz S, Marcó S, Pérez J, Elias G, León X, Roca C, Jimenez V, Otaegui P, Mulero F, Navarro M, Ruberte J, Bosch F
Nat Commun 2021 Sep 9;12(1):5343. doi: 10.1038/s41467-021-25697-y. PMID: 34504088Free PMC Article
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247

Recent clinical studies

Etiology

Yoshimura N, Fukahara K, Yamashita A, Doi T, Yamashita S, Homma T, Yokoyama S, Aoki M, Higashida A, Shimada Y, Toritsuka D, Nagao K, Ikeno Y
Surg Today 2020 Oct;50(10):1151-1158. Epub 2019 Nov 1 doi: 10.1007/s00595-019-01907-5. PMID: 31676999
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Fernandez-Bussy S, Mahajan B, Folch E, Caviedes I, Guerrero J, Majid A
J Bronchology Interv Pulmonol 2015 Oct;22(4):357-64. doi: 10.1097/LBR.0000000000000177. PMID: 26348694
Macchiarini P, Jungebluth P, Go T, Asnaghi MA, Rees LE, Cogan TA, Dodson A, Martorell J, Bellini S, Parnigotto PP, Dickinson SC, Hollander AP, Mantero S, Conconi MT, Birchall MA
Lancet 2008 Dec 13;372(9655):2023-30. Epub 2008 Nov 18 doi: 10.1016/S0140-6736(08)61598-6. PMID: 19022496

Diagnosis

Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
Windsor A, Clemmens C, Jacobs IN
Paediatr Respir Rev 2016 Jan;17:24-8. Epub 2015 Jul 10 doi: 10.1016/j.prrv.2015.07.001. PMID: 26277452
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
Hysinger EB, Panitch HB
Paediatr Respir Rev 2016 Jan;17:9-15. Epub 2015 Mar 17 doi: 10.1016/j.prrv.2015.03.002. PMID: 25962857
Fernandez-Bussy S, Mahajan B, Folch E, Caviedes I, Guerrero J, Majid A
J Bronchology Interv Pulmonol 2015 Oct;22(4):357-64. doi: 10.1097/LBR.0000000000000177. PMID: 26348694
McHoney M
Early Hum Dev 2014 Dec;90(12):941-6. Epub 2014 Oct 18 doi: 10.1016/j.earlhumdev.2014.09.013. PMID: 25448786
Barros Casas D, Fernández-Bussy S, Folch E, Flandes Aldeyturriaga J, Majid A
Arch Bronconeumol 2014 Aug;50(8):345-54. Epub 2014 Apr 3 doi: 10.1016/j.arbres.2013.12.012. PMID: 24703501

Prognosis

Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Johnston DR, Watters K, Ferrari LR, Rahbar R
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):905-11. Epub 2014 Mar 27 doi: 10.1016/j.ijporl.2014.03.015. PMID: 24735606
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Clinical prediction guides

Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876
Kardon G, Ackerman KG, McCulley DJ, Shen Y, Wynn J, Shang L, Bogenschutz E, Sun X, Chung WK
Dis Model Mech 2017 Aug 1;10(8):955-970. doi: 10.1242/dmm.028365. PMID: 28768736Free PMC Article
Hewitt RJ, Butler CR, Maughan EF, Elliott MJ
Semin Pediatr Surg 2016 Jun;25(3):144-9. Epub 2016 Feb 19 doi: 10.1053/j.sempedsurg.2016.02.007. PMID: 27301600
McHoney M
Early Hum Dev 2014 Dec;90(12):941-6. Epub 2014 Oct 18 doi: 10.1016/j.earlhumdev.2014.09.013. PMID: 25448786
Simon M, Vremaroiu P, Andrei F
J Bronchology Interv Pulmonol 2014 Apr;21(2):145-9. doi: 10.1097/LBR.0000000000000068. PMID: 24739689

Recent systematic reviews

Wu Y, Wang G, Dai J, Li H, Li Y, Wu C, Wei G
Laryngoscope 2022 Aug;132(8):1532-1541. Epub 2021 Jul 20 doi: 10.1002/lary.29771. PMID: 34287919
Smith MM, Huang A, Labbé M, Lubov J, Nguyen LHP
Int J Pediatr Otorhinolaryngol 2017 Oct;101:57-64. Epub 2017 Jul 24 doi: 10.1016/j.ijporl.2017.07.028. PMID: 28964311
Al-Maary J, Eastwood MP, Russo FM, Deprest JA, Keijzer R
Ann Surg 2016 Dec;264(6):929-933. doi: 10.1097/SLA.0000000000001675. PMID: 26910202
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
Ywakim R, El-Hakim H
J Otolaryngol Head Neck Surg 2012 Aug;41(4):288-302. PMID: 22935181

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