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Laryngeal web

MedGen UID:
84297
Concept ID:
C0281890
Disease or Syndrome
Synonym: Laryngeal webs
SNOMED CT: Laryngeal web (297159008)
 
HPO: HP:0005950

Definition

A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. [from HPO]

Conditions with this feature

Osteopathia striata with cranial sclerosis
MedGen UID:
96590
Concept ID:
C0432268
Disease or Syndrome
Most females with osteopathia striata with cranial sclerosis (OS-CS) present with macrocephaly and characteristic facial features (frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge, and prominent jaw). Approximately half have associated features including orofacial clefting and hearing loss, and a minority have some degree of developmental delay (usually mild). Radiographic findings of cranial sclerosis, sclerosis of long bones, and metaphyseal striations (in combination with macrocephaly) can be considered pathognomonic. Males can present with a mild or severe phenotype. Mildly affected males have clinical features similar to affected females, including macrocephaly, characteristic facial features, orofacial clefting, hearing loss, and mild-to-moderate learning delays. Mildly affected males are more likely than females to have congenital or musculoskeletal anomalies. Radiographic findings include cranial sclerosis and sclerosis of the long bones; Metaphyseal striations are more common in males who are mosaic for an AMER1 pathogenic variant. The severe phenotype manifests in males as a multiple-malformation syndrome, lethal in mid-to-late gestation, or in the neonatal period. Congenital malformations include skeletal defects (e.g., polysyndactyly, absent or hypoplastic fibulae), congenital heart disease, and brain, genitourinary, and gastrointestinal anomalies. Macrocephaly is not always present and longitudinal metaphyseal striations have not been observed in severely affected males, except for those who are mosaic for the AMER1 pathogenic variant.
Larynx, congenital partial atresia of
MedGen UID:
372073
Concept ID:
C1835555
Congenital Abnormality
Vertebral, cardiac, renal, and limb defects syndrome 1
MedGen UID:
1621146
Concept ID:
C4540004
Disease or Syndrome
Vertebral, cardiac, renal, and limb defects syndrome-1 (VCRL1) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome See also VCRL2 (617661), caused by mutation in the KYNU gene (605197) on chromosome 2q22, and VCRL3 (618845), caused by mutation in the NADSYN1 gene (608285) on chromosome 11q13.
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.

Professional guidelines

PubMed

Parkes WJ, Propst EJ
Semin Fetal Neonatal Med 2016 Aug;21(4):270-6. Epub 2016 Mar 31 doi: 10.1016/j.siny.2016.03.003. PMID: 27049674
Benmansour N, Remacle M, Matar N, Lawson G, Bachy V, Van Der Vorst S
Eur Arch Otorhinolaryngol 2012 Sep;269(9):2075-80. Epub 2012 Mar 28 doi: 10.1007/s00405-012-2001-z. PMID: 22454231
Linna O, Hyrynkangas K, Lanning P, Nieminen P
Acta Paediatr 2002;91(4):399-402. doi: 10.1080/080352502317371625. PMID: 12061354

Recent clinical studies

Etiology

El-Sobki A, Ae Ibrahim R, Elzayat S, El-Deeb ME, Ashraf B, Hashish MI, Alsobky MEI, Salamah A
Eur Arch Otorhinolaryngol 2023 Nov;280(11):4987-4994. Epub 2023 Jul 27 doi: 10.1007/s00405-023-08127-1. PMID: 37500784Free PMC Article
Moore AE, Walker A, Kanotra SP
Otolaryngol Head Neck Surg 2023 Aug;169(2):227-233. Epub 2023 Feb 7 doi: 10.1002/ohn.279. PMID: 36939597
Avelino MAG, Pazinatto DB, Rodrigues SO, Maunsell R
Braz J Otorhinolaryngol 2022 Jul-Aug;88(4):497-504. Epub 2020 Aug 3 doi: 10.1016/j.bjorl.2020.06.018. PMID: 32855093Free PMC Article
Lawlor CM, Dombrowski ND, Nuss RC, Rahbar R, Choi SS
Otolaryngol Head Neck Surg 2020 Feb;162(2):234-240. Epub 2019 Dec 17 doi: 10.1177/0194599819893985. PMID: 31842676
Van Damme S, Cosyns M, Deman S, Van den Eede Z, Van Borsel J
J Voice 2017 Mar;31(2):244.e1-244.e5. Epub 2016 Jul 28 doi: 10.1016/j.jvoice.2016.04.002. PMID: 27474996

Diagnosis

Hankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright J
Int J Pediatr Otorhinolaryngol 2022 Dec;163:111373. Epub 2022 Nov 2 doi: 10.1016/j.ijporl.2022.111373. PMID: 36335759
Avelino MAG, Pazinatto DB, Rodrigues SO, Maunsell R
Braz J Otorhinolaryngol 2022 Jul-Aug;88(4):497-504. Epub 2020 Aug 3 doi: 10.1016/j.bjorl.2020.06.018. PMID: 32855093Free PMC Article
ALNafisee D, Farrell A, O'Donnell C, McLoughlin H
Ir Med J 2021 Aug 19;114(7):418. PMID: 35476379
Lawlor CM, Dombrowski ND, Nuss RC, Rahbar R, Choi SS
Otolaryngol Head Neck Surg 2020 Feb;162(2):234-240. Epub 2019 Dec 17 doi: 10.1177/0194599819893985. PMID: 31842676
Clark CM, Kugler K, Carr MM
JAAPA 2018 Nov;31(11):36-40. doi: 10.1097/01.JAA.0000546480.64441.af. PMID: 30358678

Therapy

Kaur P, Chaudhry C, Neelam H, Panigrahi I
BMJ Case Rep 2021 Jan 28;14(1) doi: 10.1136/bcr-2020-236325. PMID: 33509858Free PMC Article
Waler A, Sanchez K, Cervantes SS, Chen C
Int J Pediatr Otorhinolaryngol 2020 Dec;139:110409. Epub 2020 Oct 13 doi: 10.1016/j.ijporl.2020.110409. PMID: 33068948
Van Damme S, Cosyns M, Deman S, Van den Eede Z, Van Borsel J
J Voice 2017 Mar;31(2):244.e1-244.e5. Epub 2016 Jul 28 doi: 10.1016/j.jvoice.2016.04.002. PMID: 27474996
de Trey LA, Lambercy K, Monnier P, Sandu K
Int J Pediatr Otorhinolaryngol 2016 Jul;86:82-6. Epub 2016 Apr 7 doi: 10.1016/j.ijporl.2016.04.006. PMID: 27260586
Anderson J
J Otolaryngol 2007 Feb;36(1):6-12. doi: 10.2310/7070.2006.0153. PMID: 17376344

Prognosis

ALNafisee D, Farrell A, O'Donnell C, McLoughlin H
Ir Med J 2021 Aug 19;114(7):418. PMID: 35476379
Lawlor CM, Dombrowski ND, Nuss RC, Rahbar R, Choi SS
Otolaryngol Head Neck Surg 2020 Feb;162(2):234-240. Epub 2019 Dec 17 doi: 10.1177/0194599819893985. PMID: 31842676
Dominguez LM, Johns MM, Simpson CB
J Voice 2017 May;31(3):381.e1-381.e3. Epub 2016 Jul 12 doi: 10.1016/j.jvoice.2016.06.013. PMID: 27427165
de Trey LA, Lambercy K, Monnier P, Sandu K
Int J Pediatr Otorhinolaryngol 2016 Jul;86:82-6. Epub 2016 Apr 7 doi: 10.1016/j.ijporl.2016.04.006. PMID: 27260586
Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B
Dev Disabil Res Rev 2008;14(1):35-42. doi: 10.1002/ddrr.6. PMID: 18636635

Clinical prediction guides

Zhang Q, Chen X, He S, Li L
Acta Otolaryngol 2021 Feb;141(2):197-202. Epub 2020 Oct 29 doi: 10.1080/00016489.2020.1832254. PMID: 33118844
Lawlor CM, Dombrowski ND, Nuss RC, Rahbar R, Choi SS
Otolaryngol Head Neck Surg 2020 Feb;162(2):234-240. Epub 2019 Dec 17 doi: 10.1177/0194599819893985. PMID: 31842676
Martins RHG, Gramuglia ACJ
J Voice 2019 Jul;33(4):561-563. Epub 2018 Sep 14 doi: 10.1016/j.jvoice.2017.12.017. PMID: 30224307
Chen J, Shu Y, Naunheim MR, Chen M, Cheng L, Wu H
Front Med 2018 Jun;12(3):301-306. Epub 2017 Sep 26 doi: 10.1007/s11684-017-0549-0. PMID: 28948508
Xiao Y, Wang J, Han D, Ma L, Ye J, Xu W
Chin Med J (Engl) 2014;127(7):1294-7. PMID: 24709183

Recent systematic reviews

Moore AE, Walker A, Kanotra SP
Otolaryngol Head Neck Surg 2023 Aug;169(2):227-233. Epub 2023 Feb 7 doi: 10.1002/ohn.279. PMID: 36939597
Hankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright J
Int J Pediatr Otorhinolaryngol 2022 Dec;163:111373. Epub 2022 Nov 2 doi: 10.1016/j.ijporl.2022.111373. PMID: 36335759
Van Damme S, Cosyns M, Deman S, Van den Eede Z, Van Borsel J
J Voice 2017 Mar;31(2):244.e1-244.e5. Epub 2016 Jul 28 doi: 10.1016/j.jvoice.2016.04.002. PMID: 27474996

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