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Hypoplasia of olfactory tract

MedGen UID:
347280
Concept ID:
C1856655
Finding
Synonym: Underdeveloped olfactory tract
 
HPO: HP:0007036

Term Hierarchy

Conditions with this feature

Fryns syndrome
MedGen UID:
65088
Concept ID:
C0220730
Disease or Syndrome
Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.

Professional guidelines

PubMed

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):417-430. Epub 2017 Nov 27 doi: 10.1002/ajmg.c.31591. PMID: 29178447
Sarfati J, Dodé C, Young J
Front Horm Res 2010;39:121-132. Epub 2010 Apr 8 doi: 10.1159/000312698. PMID: 20389090
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Am J Hum Genet 2006 Feb;78(2):303-14. Epub 2005 Dec 29 doi: 10.1086/500273. PMID: 16400610Free PMC Article

Recent clinical studies

Etiology

Muccioli L, Sighinolfi G, Mitolo M, Ferri L, Jane Rochat M, Pensato U, Taruffi L, Testa C, Masullo M, Cortelli P, Lodi R, Liguori R, Tonon C, Bisulli F
Neuroimage Clin 2023;38:103410. Epub 2023 Apr 17 doi: 10.1016/j.nicl.2023.103410. PMID: 37104928Free PMC Article
Kapici OB, Kapici Y, Tekin A
Psychiatry Res Neuroimaging 2023 Jul;332:111644. Epub 2023 Apr 10 doi: 10.1016/j.pscychresns.2023.111644. PMID: 37087810
Yu B, Chen K, Mao J, Hou B, You H, Wang X, Nie M, Huang Q, Zhang R, Zhu Y, Sun B, Feng F, Zhou W, Wu X
Front Endocrinol (Lausanne) 2022;13:909623. Epub 2022 Sep 16 doi: 10.3389/fendo.2022.909623. PMID: 36187095Free PMC Article
Facciolà A, Visalli G, La Maestra S, Ceccarelli M, D'Aleo F, Nunnari G, Pellicanò GF, Di Pietro A
Environ Toxicol Pharmacol 2019 Jan;65:23-30. Epub 2018 Nov 22 doi: 10.1016/j.etap.2018.11.006. PMID: 30500734
Hauser LJ, Jensen EL, Mirsky DM, Chan KH
Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575

Diagnosis

Tirassa P, Schirinzi T, Raspa M, Ralli M, Greco A, Polimeni A, Possenti R, Mercuri NB, Severini C
Neurosci Biobehav Rev 2021 Dec;131:899-911. Epub 2021 Oct 12 doi: 10.1016/j.neubiorev.2021.10.008. PMID: 34653503
Hauser LJ, Jensen EL, Mirsky DM, Chan KH
Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575
Sarnat HB, Flores-Sarnat L, Wei XC
J Child Neurol 2017 May;32(6):566-578. Epub 2017 Feb 19 doi: 10.1177/0883073817690867. PMID: 28424010
Attems J, Walker L, Jellinger KA
Gerontology 2015;61(6):485-90. Epub 2015 May 9 doi: 10.1159/000381619. PMID: 25968962
Leboucq N, Menjot de Champfleur N, Menjot de Champfleur S, Bonafé A
Diagn Interv Imaging 2013 Oct;94(10):985-91. Epub 2013 Aug 7 doi: 10.1016/j.diii.2013.06.006. PMID: 23932763

Therapy

Imamura F
Front Neural Circuits 2024;18:1408187. Epub 2024 May 15 doi: 10.3389/fncir.2024.1408187. PMID: 38818309Free PMC Article
Tan CJ, Tan BKJ, Tan XY, Liu HT, Teo CB, See A, Xu S, Toh ST, Kheok SW, Charn TC, Teo NWY
Laryngoscope 2022 Jun;132(6):1260-1274. Epub 2022 Mar 22 doi: 10.1002/lary.30078. PMID: 35318656Free PMC Article
Schnell A, Albrecht U, Sandrelli F
Behav Neurosci 2014 Jun;128(3):326-43. Epub 2014 Mar 24 doi: 10.1037/a0035883. PMID: 24660658
Song C, Leonard BE
Neurosci Biobehav Rev 2005;29(4-5):627-47. Epub 2005 Apr 25 doi: 10.1016/j.neubiorev.2005.03.010. PMID: 15925697
Leonard BE
Eur Neuropsychopharmacol 1997 Apr;7 Suppl 1:S11-6; discussion S71-3. doi: 10.1016/s0924-977x(97)00415-x. PMID: 9169306

Prognosis

Tan CJ, Tan BKJ, Tan XY, Liu HT, Teo CB, See A, Xu S, Toh ST, Kheok SW, Charn TC, Teo NWY
Laryngoscope 2022 Jun;132(6):1260-1274. Epub 2022 Mar 22 doi: 10.1002/lary.30078. PMID: 35318656Free PMC Article
Ammar A, Distinguin L, Chetrit A, Safa D, Hans S, Carlier R, Lechien JR, Edjlali M
J Neuroradiol 2022 Jun;49(4):329-332. Epub 2022 Mar 17 doi: 10.1016/j.neurad.2022.03.003. PMID: 35306004Free PMC Article
Tirassa P, Schirinzi T, Raspa M, Ralli M, Greco A, Polimeni A, Possenti R, Mercuri NB, Severini C
Neurosci Biobehav Rev 2021 Dec;131:899-911. Epub 2021 Oct 12 doi: 10.1016/j.neubiorev.2021.10.008. PMID: 34653503
Kim MS, Lee GJ
Surg Radiol Anat 2014 Sep;36(7):663-7. Epub 2013 Nov 23 doi: 10.1007/s00276-013-1239-5. PMID: 24271941
Maga P, Tomaszewski KA, Krzyżewski RM, Golec J, Depukat P, Gregorczyk-Maga I, Skrzat J
Anat Sci Int 2013 Sep;88(4):223-9. Epub 2013 Jul 17 doi: 10.1007/s12565-013-0192-z. PMID: 23860669

Clinical prediction guides

Mastenbroek SE, Vogel JW, Collij LE, Serrano GE, Tremblay C, Young AL, Arce RA, Shill HA, Driver-Dunckley ED, Mehta SH, Belden CM, Atri A, Choudhury P, Barkhof F, Adler CH, Ossenkoppele R, Beach TG, Hansson O
Nat Commun 2024 Jun 15;15(1):5133. doi: 10.1038/s41467-024-49402-x. PMID: 38879548Free PMC Article
Altmann DM, Whettlock EM, Liu S, Arachchillage DJ, Boyton RJ
Nat Rev Immunol 2023 Oct;23(10):618-634. Epub 2023 Jul 11 doi: 10.1038/s41577-023-00904-7. PMID: 37433988
Kapici OB, Kapici Y, Tekin A
Psychiatry Res Neuroimaging 2023 Jul;332:111644. Epub 2023 Apr 10 doi: 10.1016/j.pscychresns.2023.111644. PMID: 37087810
Tan CJ, Tan BKJ, Tan XY, Liu HT, Teo CB, See A, Xu S, Toh ST, Kheok SW, Charn TC, Teo NWY
Laryngoscope 2022 Jun;132(6):1260-1274. Epub 2022 Mar 22 doi: 10.1002/lary.30078. PMID: 35318656Free PMC Article
Tirassa P, Schirinzi T, Raspa M, Ralli M, Greco A, Polimeni A, Possenti R, Mercuri NB, Severini C
Neurosci Biobehav Rev 2021 Dec;131:899-911. Epub 2021 Oct 12 doi: 10.1016/j.neubiorev.2021.10.008. PMID: 34653503

Recent systematic reviews

Tan CJ, Tan BKJ, Tan XY, Liu HT, Teo CB, See A, Xu S, Toh ST, Kheok SW, Charn TC, Teo NWY
Laryngoscope 2022 Jun;132(6):1260-1274. Epub 2022 Mar 22 doi: 10.1002/lary.30078. PMID: 35318656Free PMC Article
Kim PH, Kim M, Suh CH, Chung SR, Park JE, Kim SC, Choi YJ, Lee JH, Kim HS, Baek JH, Choi CG, Kim SJ
Korean J Radiol 2021 Nov;22(11):1875-1885. Epub 2021 Jul 1 doi: 10.3348/kjr.2021.0127. PMID: 34269530Free PMC Article
Pan S, Chen WC, Baal JD, Sugrue LP
Acad Radiol 2020 Nov;27(11):1507-1514. Epub 2020 Aug 29 doi: 10.1016/j.acra.2020.08.026. PMID: 32912668Free PMC Article
Özay H, Çakır A, Ecevit MC
Balkan Med J 2019 Jan 1;36(1):49-59. Epub 2018 Sep 28 doi: 10.4274/balkanmedj.2018.0052. PMID: 30264731Free PMC Article

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