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Tracheal stenosis

MedGen UID:
21227
Concept ID:
C0040583
Disease or Syndrome
Synonyms: Stenoses, Tracheal; Stenosis, Tracheal; Tracheal Stenoses; Tracheal Stenosis
SNOMED CT: Stenosis of trachea (11296007); Tracheal stenosis (11296007)
 
HPO: HP:0002777
Monarch Initiative: MONDO:0002568

Definition

Narrowing of the lumen of the trachea. [from NCI]

Conditions with this feature

Mucopolysaccharidosis, MPS-I-H/S
MedGen UID:
88566
Concept ID:
C0086431
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.
Larsen syndrome
MedGen UID:
104500
Concept ID:
C0175778
Disease or Syndrome
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.
Chondrodysplasia punctata 2 X-linked dominant
MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic features include growth deficiency; distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; and cataracts.
Toriello-Carey syndrome
MedGen UID:
163225
Concept ID:
C0796184
Disease or Syndrome
Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by Toriello et al., 2003). In a review of the Toriello-Carey syndrome, Toriello et al. (2016) stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing.
Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
MedGen UID:
316973
Concept ID:
C1832362
Disease or Syndrome
A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
Hydrolethalus syndrome 1
MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.
X-linked intellectual disability-craniofacioskeletal syndrome
MedGen UID:
394716
Concept ID:
C2678036
Disease or Syndrome
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
Geleophysic dysplasia 1
MedGen UID:
479777
Concept ID:
C3278147
Disease or Syndrome
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.
Granulomatosis with polyangiitis
MedGen UID:
811223
Concept ID:
C3495801
Disease or Syndrome
Granulomatosis with polyangiitis, formerly termed Wegener granulomatosis, is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; 177020), which is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active GPA express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process (Jagiello et al., 2004).
Frontometaphyseal dysplasia 2
MedGen UID:
934664
Concept ID:
C4310697
Disease or Syndrome
Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016). For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (305620).
Geleophysic dysplasia 3
MedGen UID:
1615724
Concept ID:
C4540511
Congenital Abnormality
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.
Microcephaly 30, primary, autosomal recessive
MedGen UID:
1824053
Concept ID:
C5774280
Disease or Syndrome
Autosomal recessive primary microcephaly-30 (MCPH30) is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals have been reported to have variable additional congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth (Carvalhal et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).

Professional guidelines

PubMed

Smith MM, Buck LS
Expert Rev Respir Med 2022 Oct;16(10):1035-1041. Epub 2022 Nov 18 doi: 10.1080/17476348.2022.2145947. PMID: 36347385
Smith MM, Cotton RT
Expert Rev Respir Med 2018 Aug;12(8):709-717. Epub 2018 Jul 12 doi: 10.1080/17476348.2018.1495564. PMID: 29969925
Brigger MT, Boseley ME
Curr Opin Otolaryngol Head Neck Surg 2012 Dec;20(6):491-6. doi: 10.1097/MOO.0b013e328358566d. PMID: 22929114

Recent clinical studies

Etiology

Richardson CM, Hart CK, Johnson KE, Gerber ME
Otolaryngol Clin North Am 2022 Dec;55(6):1253-1270. doi: 10.1016/j.otc.2022.07.014. PMID: 36371139
James P, Parmar S, Hussain K, Praveen P
Br J Oral Maxillofac Surg 2021 Jan;59(1):82-85. Epub 2020 Aug 19 doi: 10.1016/j.bjoms.2020.08.036. PMID: 33160732
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
Smith MM, Cotton RT
Expert Rev Respir Med 2018 Aug;12(8):709-717. Epub 2018 Jul 12 doi: 10.1080/17476348.2018.1495564. PMID: 29969925
Antón-Pacheco JL
Semin Pediatr Surg 2016 Jun;25(3):179-85. Epub 2016 Feb 22 doi: 10.1053/j.sempedsurg.2016.02.011. PMID: 27301605

Diagnosis

Yuan SM
J Coll Physicians Surg Pak 2023 Jun;33(6):684-690. doi: 10.29271/jcpsp.2023.06.684. PMID: 37300266
Bibas BJ, Peitl-Gregorio PH, Cremonese MR, Terra RM
Thorac Surg Clin 2022 Aug;32(3):373-381. doi: 10.1016/j.thorsurg.2022.04.004. PMID: 35961745
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
Smith MM, Cotton RT
Expert Rev Respir Med 2018 Aug;12(8):709-717. Epub 2018 Jul 12 doi: 10.1080/17476348.2018.1495564. PMID: 29969925
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

Therapy

Bibas BJ, Peitl-Gregorio PH, Cremonese MR, Terra RM
Thorac Surg Clin 2022 Aug;32(3):373-381. doi: 10.1016/j.thorsurg.2022.04.004. PMID: 35961745
Wang XF, Tian XH
Med Intensiva (Engl Ed) 2022 May;46(5):294. doi: 10.1016/j.medine.2020.02.005. PMID: 35598953
James P, Parmar S, Hussain K, Praveen P
Br J Oral Maxillofac Surg 2021 Jan;59(1):82-85. Epub 2020 Aug 19 doi: 10.1016/j.bjoms.2020.08.036. PMID: 33160732
Godin DA, Rodriguez KH, Hebert F
J La State Med Soc 2000 Jun;152(6):276-80. PMID: 10935364
McCullough DW, Whytehead LL
J Otolaryngol 1976 Apr;5(2):138-42. PMID: 933238

Prognosis

Madariaga MLL, Soni ML, Mathisen DJ, Wright CD, Li S, Lee H, Davies D, Knoll S, Muniappan A, Lanuti M, Ott H, Gaissert HA
Ann Thorac Surg 2022 Feb;113(2):406-412. Epub 2021 Mar 6 doi: 10.1016/j.athoracsur.2021.03.001. PMID: 33689735
Kennedy AA, de Alarcon A, Tabangin ME, Rutter MJ, Myer CM 4th, Smith MM, Hart CK
Laryngoscope 2021 Apr;131(4):E1363-E1368. Epub 2020 Aug 26 doi: 10.1002/lary.28996. PMID: 32846022
de Alarcon A, Rutter MJ
Arch Otolaryngol Head Neck Surg 2012 Sep;138(9):812-6. doi: 10.1001/archoto.2012.1768. PMID: 22986713
Chin CS, Litle V, Yun J, Weiser T, Swanson SJ
Ann Thorac Surg 2008 Feb;85(2):S792-6. doi: 10.1016/j.athoracsur.2007.11.051. PMID: 18222219
Elliott M, Hartley BE, Wallis C, Roebuck D
Curr Opin Otolaryngol Head Neck Surg 2008 Feb;16(1):75-82. doi: 10.1097/MOO.0b013e3282f45ab7. PMID: 18197027

Clinical prediction guides

Aydin S, Oz G, Dumanli A, Dongel I, Camas HE
Ann Ital Chir 2022;93:626-632. PMID: 36617271
Catano J, Uzunhan Y, Paule R, Dion J, Régent A, Legendre P, Gonin F, Martinod E, Cohen P, Puéchal X, Le Guern V, Mouthon L, Coste A, Lorut C, La Croix C, Périé S, Terrier B
Chest 2022 Jan;161(1):257-265. Epub 2021 Jul 26 doi: 10.1016/j.chest.2021.07.037. PMID: 34324839
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
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Wain JC Jr
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Recent systematic reviews

Alshareef W, Almutairi N, Sindi A, Almakoshi L, Zakzouk A, Aljasser A, Alammar A
Eur Arch Otorhinolaryngol 2023 Nov;280(11):4783-4792. Epub 2023 Jul 31 doi: 10.1007/s00405-023-08159-7. PMID: 37522909
Zalzal HG, Behzadpour HK, Leonard J, Sinha P, Preciado DA
Ann Otol Rhinol Laryngol 2023 May;132(5):558-565. Epub 2022 Jun 20 doi: 10.1177/00034894221104955. PMID: 35723210
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
Fockens MM, Hölscher M, Limpens J, Dikkers FG
Pediatr Pulmonol 2021 May;56(5):814-822. Epub 2021 Jan 12 doi: 10.1002/ppul.25203. PMID: 33434377Free PMC Article
Ywakim R, El-Hakim H
J Otolaryngol Head Neck Surg 2012 Aug;41(4):288-302. PMID: 22935181

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