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Hypoplasia of the pharynx

MedGen UID:
869864
Concept ID:
C4024295
Finding
Synonyms: Decreased diameter of pharynx; Decreased length of pharynx; Decreased size of pharynx; Decreased volume of pharynx; Decreased width of pharynx; Hypotrophic pharynx; Small pharynx; Underdevelopment of pharynx
 
HPO: HP:0009555

Definition

Underdevelopment of the pharynx. [from HPO]

Term Hierarchy

Conditions with this feature

Treacher Collins syndrome
MedGen UID:
66078
Concept ID:
C0242387
Disease or Syndrome
Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.
Omphalocele syndrome, Shprintzen-Goldberg type
MedGen UID:
356653
Concept ID:
C1866958
Disease or Syndrome
A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.

Professional guidelines

PubMed

Salem J, Blumenow W, Markey A, Hogg ES, McCann E, Yassaie E, Hennedige A, De S, Sharma SD
J Craniofac Surg 2023 Oct 1;34(7):1985-1988. Epub 2023 Jul 21 doi: 10.1097/SCS.0000000000009541. PMID: 37477198
Järvenpää P, Arkkila P, Aaltonen LM
Eur Arch Otorhinolaryngol 2018 Aug;275(8):1945-1953. Epub 2018 Jun 25 doi: 10.1007/s00405-018-5041-1. PMID: 29943257
Scadding G
Pediatr Allergy Immunol 2010 Dec;21(8):1095-106. doi: 10.1111/j.1399-3038.2010.01012.x. PMID: 20609137

Recent clinical studies

Etiology

Pereira L, Monyror J, Almeida FT, Almeida FR, Guerra E, Flores-Mir C, Pachêco-Pereira C
Sleep Med Rev 2018 Apr;38:101-112. Epub 2017 Jun 14 doi: 10.1016/j.smrv.2017.06.001. PMID: 29153763
Guilleminault C, Huang YS
Sleep Med Rev 2018 Aug;40:203-214. Epub 2017 Jul 6 doi: 10.1016/j.smrv.2017.06.008. PMID: 29103943
Joosten KF, Larramona H, Miano S, Van Waardenburg D, Kaditis AG, Vandenbussche N, Ersu R
Pediatr Pulmonol 2017 Feb;52(2):260-271. Epub 2016 Nov 16 doi: 10.1002/ppul.23639. PMID: 27865065
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222
Malhotra A, White DP
Lancet 2002 Jul 20;360(9328):237-45. doi: 10.1016/S0140-6736(02)09464-3. PMID: 12133673

Diagnosis

Raol N, Schrepfer T, Hartnick C
Clin Perinatol 2018 Dec;45(4):645-660. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.005. PMID: 30396410
Pereira L, Monyror J, Almeida FT, Almeida FR, Guerra E, Flores-Mir C, Pachêco-Pereira C
Sleep Med Rev 2018 Apr;38:101-112. Epub 2017 Jun 14 doi: 10.1016/j.smrv.2017.06.001. PMID: 29153763
Joosten KF, Larramona H, Miano S, Van Waardenburg D, Kaditis AG, Vandenbussche N, Ersu R
Pediatr Pulmonol 2017 Feb;52(2):260-271. Epub 2016 Nov 16 doi: 10.1002/ppul.23639. PMID: 27865065
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222
Malhotra A, White DP
Lancet 2002 Jul 20;360(9328):237-45. doi: 10.1016/S0140-6736(02)09464-3. PMID: 12133673

Therapy

Levine MS
Gastroenterol Clin North Am 2018 Sep;47(3):449-473. Epub 2018 Jul 7 doi: 10.1016/j.gtc.2018.04.001. PMID: 30115432
Pereira L, Monyror J, Almeida FT, Almeida FR, Guerra E, Flores-Mir C, Pachêco-Pereira C
Sleep Med Rev 2018 Apr;38:101-112. Epub 2017 Jun 14 doi: 10.1016/j.smrv.2017.06.001. PMID: 29153763
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
Miller L, Vegesna A, Ruggieri M, Braverman A
Ann N Y Acad Sci 2016 Sep;1380(1):48-57. Epub 2016 Jul 28 doi: 10.1111/nyas.13168. PMID: 27467321
Atmatzidis K, Papaziogas B, Pavlidis T, Mirelis Ch, Papaziogas T
Dis Esophagus 2003;16(2):154-7. doi: 10.1046/j.1442-2050.2003.00316.x. PMID: 12823219

Prognosis

Raol N, Schrepfer T, Hartnick C
Clin Perinatol 2018 Dec;45(4):645-660. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.005. PMID: 30396410
Järvenpää P, Arkkila P, Aaltonen LM
Eur Arch Otorhinolaryngol 2018 Aug;275(8):1945-1953. Epub 2018 Jun 25 doi: 10.1007/s00405-018-5041-1. PMID: 29943257
Esen E, Bayar Muluk N, Altintoprak N, Ipci K, Cingi C
J Laryngol Otol 2017 Jun;131(6):476-479. Epub 2017 Feb 27 doi: 10.1017/S0022215117000391. PMID: 28238296
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Clinical prediction guides

Birchall MA, Lam CM, Wood G
Am J Med Genet C Semin Med Genet 2021 Dec;187(4):527-532. Epub 2021 Nov 20 doi: 10.1002/ajmg.c.31956. PMID: 34799986
Qian Y, Zou J, Xu H, Zhu H, Meng L, Liu S, Yi H, Guan J, Yin S
Laryngoscope 2020 Mar;130(3):818-824. Epub 2019 May 11 doi: 10.1002/lary.28012. PMID: 31077395
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
Armalaite J, Lopatiene K
Dentomaxillofac Radiol 2016;45(1):20150085. Epub 2015 Aug 3 doi: 10.1259/dmfr.20150085. PMID: 26234535Free PMC Article
Arnett BC
Neurol Clin 2004 Feb;22(1):229-36. doi: 10.1016/S0733-8619(03)00101-4. PMID: 15062536

Recent systematic reviews

Ming Y, Hu Y, Li Y, Yu J, He H, Zheng L
Int J Pediatr Otorhinolaryngol 2018 Feb;105:138-145. Epub 2017 Dec 14 doi: 10.1016/j.ijporl.2017.12.013. PMID: 29447802
Pereira L, Monyror J, Almeida FT, Almeida FR, Guerra E, Flores-Mir C, Pachêco-Pereira C
Sleep Med Rev 2018 Apr;38:101-112. Epub 2017 Jun 14 doi: 10.1016/j.smrv.2017.06.001. PMID: 29153763
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222
Lachance S, Chadha NK
Otolaryngol Head Neck Surg 2016 Feb;154(2):241-6. Epub 2015 Nov 2 doi: 10.1177/0194599815613286. PMID: 26527612
Steele CM, Cichero JA
Dysphagia 2014 Jun;29(3):295-304. Epub 2014 Feb 23 doi: 10.1007/s00455-014-9516-y. PMID: 24562507Free PMC Article

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