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Abnormal uvula morphology

MedGen UID:
871389
•Concept ID:
C4025885
•
Anatomical Abnormality
Synonym: Abnormality of the uvula
 
HPO: HP:0000172

Definition

Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. [from HPO]

Professional guidelines

PubMed

Surgical treatment of snoring & obstructive sleep apnoea.
Ephros HD, Madani M, Yalamanchili SC
Indian J Med Res 2010 Feb;131:267-76. PMID: 20308752
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB
Hum Mutat 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863. PMID: 19058200Free PMC Article
Tongue base reduction with hyoepiglottoplasty: a treatment for severe obstructive sleep apnea.
Chabolle F, Wagner I, Blumen MB, Séquert C, Fleury B, De Dieuleveult T
Laryngoscope 1999 Aug;109(8):1273-80. doi: 10.1097/00005537-199908000-00017. PMID: 10443833

Recent clinical studies

Etiology

Arterial tortuosity in pediatric Loeys-Dietz syndrome patients.
Brunet-Garcia L, Prabaharan P, Bruyndonckx L, Field E, D'Arco F, Capelli C, Cervi E
Am J Med Genet A 2024 Mar;194(3):e63465. Epub 2023 Nov 2 doi: 10.1002/ajmg.a.63465. PMID: 37916856
Morphology of the Musculus Uvulae In Vivo Using MRI and 3D Modeling Among Adults With Normal Anatomy and Preliminary Comparisons to Cleft Palate Anatomy.
Perry JL, Chen JY, Kotlarek KJ, Haenssler A, Sutton BP, Kuehn DP, Sitzman TJ, Fang X
Cleft Palate Craniofac J 2019 Sep;56(8):993-1000. Epub 2019 Feb 20 doi: 10.1177/1055665619828226. PMID: 30786757Free PMC Article
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Musculoskeletal findings of Loeys-Dietz syndrome.
Erkula G, Sponseller PD, Paulsen LC, Oswald GL, Loeys BL, Dietz HC
J Bone Joint Surg Am 2010 Aug 4;92(9):1876-83. doi: 10.2106/JBJS.I.01140. PMID: 20686062
Evaluation of the upper airway in obstructive sleep apnoea.
Togeiro SM, Chaves CM Jr, Palombini L, Tufik S, Hora F, Nery LE
Indian J Med Res 2010 Feb;131:230-5. PMID: 20308748

Diagnosis

Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B
Adv Exp Med Biol 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. PMID: 24443023
Anatomy and physiology of the velopharyngeal mechanism.
Perry JL
Semin Speech Lang 2011 May;32(2):83-92. Epub 2011 Sep 26 doi: 10.1055/s-0031-1277712. PMID: 21948636
Evaluation of the upper airway in obstructive sleep apnoea.
Togeiro SM, Chaves CM Jr, Palombini L, Tufik S, Hora F, Nery LE
Indian J Med Res 2010 Feb;131:230-5. PMID: 20308748
Rapp-Hodgkin syndrome.
Kim G, Shin H
Dermatol Online J 2004 Nov 30;10(3):23. PMID: 15748593

Therapy

Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.
Morava E
Mol Genet Metab 2014 Aug;112(4):275-9. Epub 2014 Jun 21 doi: 10.1016/j.ymgme.2014.06.002. PMID: 24997537Free PMC Article
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B
Adv Exp Med Biol 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. PMID: 24443023
Isolated uvulitis.
Cohen M, Chhetri DK, Head C
Ear Nose Throat J 2007 Aug;86(8):462, 464. PMID: 17915667
Orofacial malformations.
Poswillo DE
Proc R Soc Med 1974 May;67(5):343-9. PMID: 4835278Free PMC Article

Prognosis

Arterial tortuosity in pediatric Loeys-Dietz syndrome patients.
Brunet-Garcia L, Prabaharan P, Bruyndonckx L, Field E, D'Arco F, Capelli C, Cervi E
Am J Med Genet A 2024 Mar;194(3):e63465. Epub 2023 Nov 2 doi: 10.1002/ajmg.a.63465. PMID: 37916856
Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.
Sales SAG, Santos ML, Machado RA, Dias VO, Nascimento JE, Swerts MSO, Júnior HM, Martelli DRB
Braz J Otorhinolaryngol 2018 Nov-Dec;84(6):687-690. Epub 2017 Aug 24 doi: 10.1016/j.bjorl.2017.08.004. PMID: 28886940Free PMC Article
Prenatal assessment of cerebellar vermian lobulation: fetal MRI with 3-Tesla postmortem validation.
Dovjak GO, Brugger PC, Gruber GM, Song JW, Weber M, Langs G, Bettelheim D, Prayer D, Kasprian G
Ultrasound Obstet Gynecol 2018 Nov;52(5):623-630. Epub 2018 Oct 8 doi: 10.1002/uog.18826. PMID: 28782259
Surgical treatment of snoring & obstructive sleep apnoea.
Ephros HD, Madani M, Yalamanchili SC
Indian J Med Res 2010 Feb;131:267-76. PMID: 20308752
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994

Clinical prediction guides

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.
Sales SAG, Santos ML, Machado RA, Dias VO, Nascimento JE, Swerts MSO, Júnior HM, Martelli DRB
Braz J Otorhinolaryngol 2018 Nov-Dec;84(6):687-690. Epub 2017 Aug 24 doi: 10.1016/j.bjorl.2017.08.004. PMID: 28886940Free PMC Article
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Importance of muscle movement for normal craniofacial development.
Hall JG
J Craniofac Surg 2010 Sep;21(5):1336-8. doi: 10.1097/SCS.0b013e3181ebcd4f. PMID: 20818259
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994
The telecanthus-hypospadias syndrome.
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

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