U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Subglottic stenosis

MedGen UID:
68668
Concept ID:
C0238441
Anatomical Abnormality
Synonym: SGS - Subglottic stenosis
SNOMED CT: SGS - Subglottic stenosis (22668006); Subglottic stenosis (22668006)
 
HPO: HP:0001607

Conditions with this feature

Nager syndrome
MedGen UID:
120519
Concept ID:
C0265245
Disease or Syndrome
Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).
Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Fraser-like syndrome
MedGen UID:
346426
Concept ID:
C1856708
Disease or Syndrome
Ulnar-mammary syndrome
MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
MedGen UID:
482685
Concept ID:
C3281055
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) is an autosomal recessive syndrome characterized primarily by hypotonia and poor feeding apparent in early infancy. Affected individuals have severe global developmental delay, early-onset intractable seizures, and recognizable craniofacial dysmorphism with skull abnormalities. The disorder is believed to be unique to the Amish population, where it exhibits a founder effect (summary by Ammous et al., 2021).
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).
Microcephaly 13, primary, autosomal recessive
MedGen UID:
863517
Concept ID:
C4015080
Disease or Syndrome
Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.
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.
Fraser syndrome 1
MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.
Shwachman-Diamond syndrome 2
MedGen UID:
1634617
Concept ID:
C4693704
Disease or Syndrome
Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.
Congenital heart defects, multiple types, 8, with or without heterotaxy
MedGen UID:
1794252
Concept ID:
C5562042
Disease or Syndrome
Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018).
Neurooculorenal syndrome
MedGen UID:
1841013
Concept ID:
C5830377
Disease or Syndrome
Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder with highly variable clinical manifestations involving several organ systems. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life, whereas others present in infancy with a neurodevelopmental disorder characterized by global developmental delay and dysmorphic facial features that may be associated with congenital anomalies of the kidney and urinary tract (CAKUT). Additional more variable features may include ocular anomalies, most commonly strabismus, congenital heart defects, and pituitary hormone deficiency. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain. There is variation in the severity, manifestations, and expressivity of the phenotype, even within families (Rasmussen et al., 2018; Munch et al., 2022).

Professional guidelines

PubMed

Tierney WS, Huang LC, Chen SC, Berry LD, Anderson C, Amin MR, Benninger MS, Blumin JH, Bock JM, Bryson PC, Castellanos PF, Clary MS, Cohen SM, Crawley BK, Dailey SH, Daniero JJ, de Alarcon A, Donovan DT, Edell ES, Ekbom DC, Fink DS, Franco RA, Garrett CG, Guardiani EA, Hillel AT, Hoffman HT, Hogikyan ND, Howell RJ, Johns MM, Kasperbauer JL, Khosla SM, Kinnard C, Kupfer RA, Langerman AJ, Lentz RJ, Lorenz RR, Lott DG, Makani SS, Maldonado F, Matrka L, McWhorter AJ, Merati AL, Mori M, Netterville JL, O'Dell K, Ongkasuwan J, Postma GN, Reder LS, Rohde SL, Richardson BE, Rickman OB, Rosen CA, Rohlfing M, Rutter MJ, Sandhu GS, Schindler JS, Schneider GT, Shah RN, Sikora AG, Sinard RJ, Smith ME, Smith LJ, Soliman AMS, Sveinsdóttir S, Veivers D, Verma SP, Weinberger PM, Weissbrod PA, Wootten CT, Shyr Y, Francis DO, Gelbard A
Otolaryngol Head Neck Surg 2023 Jun;168(6):1570-1575. Epub 2023 Jan 19 doi: 10.1002/ohn.190. PMID: 36939627
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

Recent clinical studies

Etiology

Marston AP, White DR
Clin Perinatol 2018 Dec;45(4):787-804. Epub 2018 Aug 27 doi: 10.1016/j.clp.2018.07.013. PMID: 30396418
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
Gallagher TQ, Hartnick CJ
Adv Otorhinolaryngol 2012;73:31-8. Epub 2012 Mar 29 doi: 10.1159/000334296. PMID: 22472225
Freezer NJ, Beasley SW, Robertson CF
Arch Dis Child 1990 Jan;65(1):123-6. doi: 10.1136/adc.65.1.123. PMID: 2301974Free PMC Article

Diagnosis

Cunha S, Evermann M, Pastor I, Schweiger T, Chorazy K, Hoetzenecker K
Multimed Man Cardiothorac Surg 2022 Dec 19;2022 doi: 10.1510/mmcts.2022.104. PMID: 36534064
Varela P, Schweiger C
Semin Pediatr Surg 2021 Jun;30(3):151055. Epub 2021 May 23 doi: 10.1016/j.sempedsurg.2021.151055. PMID: 34172206
Marston AP, White DR
Clin Perinatol 2018 Dec;45(4):787-804. Epub 2018 Aug 27 doi: 10.1016/j.clp.2018.07.013. PMID: 30396418
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
Jefferson ND, Cohen AP, Rutter MJ
Semin Pediatr Surg 2016 Jun;25(3):138-43. Epub 2016 Feb 20 doi: 10.1053/j.sempedsurg.2016.02.006. PMID: 27301599

Therapy

Pinzas LA, Bedwell JR, Ongkasuwan J
Otolaryngol Head Neck Surg 2023 Mar;168(3):469-477. Epub 2023 Jan 28 doi: 10.1177/01945998221100829. PMID: 35608918
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
Bigi A, Bartolomeo M, Costes V, Makeieff M
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Feb;133(1):51-3. Epub 2016 Jan 4 doi: 10.1016/j.anorl.2015.03.009. PMID: 26769262
O-Lee TJ, Messner A
Otolaryngol Clin North Am 2008 Oct;41(5):903-11, viii-ix. doi: 10.1016/j.otc.2008.04.009. PMID: 18775341
Freezer NJ, Beasley SW, Robertson CF
Arch Dis Child 1990 Jan;65(1):123-6. doi: 10.1136/adc.65.1.123. PMID: 2301974Free PMC Article

Prognosis

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
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
Barut K, Sahin S, Kasapcopur O
Curr Opin Rheumatol 2016 Jan;28(1):29-38. doi: 10.1097/BOR.0000000000000236. PMID: 26555448
de Alarcon A, Rutter MJ
Arch Otolaryngol Head Neck Surg 2012 Sep;138(9):812-6. doi: 10.1001/archoto.2012.1768. PMID: 22986713

Clinical prediction guides

Holmes C, Aravinthan K, Murphy RA, Gore-Hickman R, Nair SP, Sharma AR
J Laryngol Otol 2022 Jun;136(6):554-558. Epub 2022 Feb 14 doi: 10.1017/S0022215122000445. PMID: 35152921
Bourdillon AT, Hajek MA, Wride M, Lee M, Lerner M, Kohli N
Ann Otol Rhinol Laryngol 2022 Jul;131(7):724-729. Epub 2021 Aug 28 doi: 10.1177/00034894211042768. PMID: 34459264
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
Woliansky J, Paddle P, Phyland D
Ear Nose Throat J 2021 Jun;100(5):360-367. Epub 2019 Sep 23 doi: 10.1177/0145561319873593. PMID: 31547701
Bigi A, Bartolomeo M, Costes V, Makeieff M
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Feb;133(1):51-3. Epub 2016 Jan 4 doi: 10.1016/j.anorl.2015.03.009. PMID: 26769262

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
Tang JA, Amadio G, Nagappan L, Schmalbach CE, Dion GR
Burns 2022 Feb;48(1):23-33. Epub 2021 Feb 27 doi: 10.1016/j.burns.2021.02.006. PMID: 33814215
Lewis S, Earley M, Rosenfeld R, Silverman J
Laryngoscope 2017 Jan;127(1):191-198. Epub 2016 Oct 21 doi: 10.1002/lary.26151. PMID: 27767216
Wentzel JL, Ahmad SM, Discolo CM, Gillespie MB, Dobbie AM, White DR
Laryngoscope 2014 Jul;124(7):1707-12. Epub 2014 Jan 15 doi: 10.1002/lary.24524. PMID: 24222273
Lang M, Brietzke SE
Otolaryngol Head Neck Surg 2014 Feb;150(2):174-9. Epub 2013 Nov 5 doi: 10.1177/0194599813510867. PMID: 24192289

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...