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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.
See: Condition Record
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).
See: Condition Record
Congenital laryngomalacia
Hennekam lymphangiectasia-lymphedema syndrome 2

Professional guidelines

PubMed

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
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
Diagnosis and Management of Laryngotracheoesophageal Cleft.
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247

Recent clinical studies

Etiology

Congenital vascular ring.
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
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Airway Anomalies.
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
Tracheostomy Tube Placement: Early and Late Complications.
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
Clinical transplantation of a tissue-engineered airway.
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

Airway Anomalies.
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
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
Rare Upper Airway Anomalies.
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
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Congenital diaphragmatic hernia.
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
Paediatric Tracheomalacia.
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
Tracheostomy Tube Placement: Early and Late Complications.
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
Congenital diaphragmatic hernia.
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
Non-malignant central airway obstruction.
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

Airway Anomalies.
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
Pediatric airway surgery.
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Laryngeal cleft: evaluation and management.
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
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
VACTERL/VATER Association.
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

Congenital diaphragmatic hernias: from genes to mechanisms to therapies.
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
Congenital tracheobronchial stenosis.
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
Congenital diaphragmatic hernia.
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
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924
Mounier-Kuhn syndrome.
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

Slide Tracheoplasty for Congenital Tracheal Stenosis Repair: A Systematic Review and Meta-Analysis.
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
Clinical presentation and airway management of tracheal atresia: A systematic review.
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
Fetal Tracheal Occlusion for Severe Pulmonary Hypoplasia in Isolated Congenital Diaphragmatic Hernia: A Systematic Review and Meta-analysis of Survival.
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
Tracheal cartilaginous sleeve association with syndromic midface hypoplasia.
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
Congenital tracheal stenosis managed conservatively: systematic review of the literature.
Ywakim R, El-Hakim H
J Otolaryngol Head Neck Surg 2012 Aug;41(4):288-302. PMID: 22935181

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