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Upper airway obstruction

MedGen UID:
149266
Concept ID:
C0740852
Finding
HPO: HP:0002781

Definition

Increased resistance to the passage of air in the upper airway. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUpper airway obstruction

Conditions with this feature

Achondroplasia
MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Acromelic frontonasal dysostosis
MedGen UID:
350933
Concept ID:
C1863616
Disease or Syndrome
Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.
Isolated congenital hypoglossia/aglossia
MedGen UID:
411249
Concept ID:
C2748587
Disease or Syndrome
Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported (Faqeih et al., 2008). Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes,' that usually include limb defects. Hall (1971) provided a classification system (see 103300). See also agnathia with holoprosencephaly (202650), which shows hypoglossia and situs inversus in addition to severe neurodevelopmental defects.
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
MedGen UID:
422448
Concept ID:
C2936791
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
Keppen-Lubinsky syndrome
MedGen UID:
481430
Concept ID:
C3279800
Disease or Syndrome
Keppen-Lubinsky syndrome (KPLBS) is a rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

Professional guidelines

PubMed

Bitners AC, Arens R
Lung 2020 Apr;198(2):257-270. Epub 2020 Mar 12 doi: 10.1007/s00408-020-00342-5. PMID: 32166426Free PMC Article
Smith DK, McDermott AJ, Sullivan JF
Am Fam Physician 2018 May 1;97(9):575-580. PMID: 29763253
Petrocheilou A, Tanou K, Kalampouka E, Malakasioti G, Giannios C, Kaditis AG
Pediatr Pulmonol 2014 May;49(5):421-9. Epub 2014 Mar 5 doi: 10.1002/ppul.22993. PMID: 24596395

Recent clinical studies

Etiology

Parekh A, Kam K, Wickramaratne S, Tolbert TM, Varga A, Osorio R, Andersen M, de Godoy LBM, Palombini LO, Tufik S, Ayappa I, Rapoport DM
Am J Respir Crit Care Med 2023 Dec 1;208(11):1216-1226. doi: 10.1164/rccm.202301-0109OC. PMID: 37698405Free PMC Article
Sorensen JR, Winther KH, Bonnema SJ, Godballe C, Hegedüs L
Thyroid 2016 Nov;26(11):1519-1527. doi: 10.1089/thy.2015.0642. PMID: 27673426
Goh CT, Jacobe S
Paediatr Respir Rev 2016 Sep;20:3-9. Epub 2015 Oct 24 doi: 10.1016/j.prrv.2015.10.005. PMID: 26628193
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Deeb ZE, Einhorn KH
Laryngoscope 1990 May;100(5):455-7. doi: 10.1288/00005537-199005000-00002. PMID: 2329900

Diagnosis

Sabil A, Launois S
Adv Exp Med Biol 2022;1384:265-280. doi: 10.1007/978-3-031-06413-5_16. PMID: 36217090
Patwari PP, Sharma GD
Pediatr Ann 2019 Apr 1;48(4):e162-e168. doi: 10.3928/19382359-20190326-03. PMID: 30986317
Ida JB, Thompson DM
Otolaryngol Clin North Am 2014 Oct;47(5):795-819. Epub 2014 Aug 7 doi: 10.1016/j.otc.2014.06.005. PMID: 25213283
Dobbie AM, White DR
Pediatr Clin North Am 2013 Aug;60(4):893-902. Epub 2013 Jun 14 doi: 10.1016/j.pcl.2013.04.013. PMID: 23905826
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Therapy

Redline S, Azarbarzin A, Peker Y
Nat Rev Cardiol 2023 Aug;20(8):560-573. Epub 2023 Mar 10 doi: 10.1038/s41569-023-00846-6. PMID: 36899115
Smith DK, McDermott AJ, Sullivan JF
Am Fam Physician 2018 May 1;97(9):575-580. PMID: 29763253
Johnson DW
BMJ Clin Evid 2014 Sep 29;2014 PMID: 25263284Free PMC Article
Vorwerk C, Coats T
Cochrane Database Syst Rev 2010 Feb 17;(2):CD006822. doi: 10.1002/14651858.CD006822.pub2. PMID: 20166089
Quintel M, Bräuer A
Minerva Anestesiol 2009 Jun;75(6):375-83. Epub 2008 Oct 23 PMID: 18946428

Prognosis

Parekh A, Kam K, Wickramaratne S, Tolbert TM, Varga A, Osorio R, Andersen M, de Godoy LBM, Palombini LO, Tufik S, Ayappa I, Rapoport DM
Am J Respir Crit Care Med 2023 Dec 1;208(11):1216-1226. doi: 10.1164/rccm.202301-0109OC. PMID: 37698405Free PMC Article
Ida JB, Thompson DM
Otolaryngol Clin North Am 2014 Oct;47(5):795-819. Epub 2014 Aug 7 doi: 10.1016/j.otc.2014.06.005. PMID: 25213283
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Rajapaksa S, Starr M
Aust Fam Physician 2010 May;39(5):280-2. PMID: 20485713
Quintel M, Bräuer A
Minerva Anestesiol 2009 Jun;75(6):375-83. Epub 2008 Oct 23 PMID: 18946428

Clinical prediction guides

Parekh A, Kam K, Wickramaratne S, Tolbert TM, Varga A, Osorio R, Andersen M, de Godoy LBM, Palombini LO, Tufik S, Ayappa I, Rapoport DM
Am J Respir Crit Care Med 2023 Dec 1;208(11):1216-1226. doi: 10.1164/rccm.202301-0109OC. PMID: 37698405Free PMC Article
Redline S, Azarbarzin A, Peker Y
Nat Rev Cardiol 2023 Aug;20(8):560-573. Epub 2023 Mar 10 doi: 10.1038/s41569-023-00846-6. PMID: 36899115
Bitners AC, Arens R
Lung 2020 Apr;198(2):257-270. Epub 2020 Mar 12 doi: 10.1007/s00408-020-00342-5. PMID: 32166426Free PMC Article
Bonsignore MR, Saaresranta T, Riha RL
Eur Respir Rev 2019 Dec 31;28(154) Epub 2019 Nov 6 doi: 10.1183/16000617.0030-2019. PMID: 31694839Free PMC Article
Johnson D
BMJ Clin Evid 2009 Mar 10;2009 PMID: 19445760Free PMC Article

Recent systematic reviews

Abu-Sultaneh S, Iyer NP, Fernández A, Gaies M, González-Dambrauskas S, Hotz JC, Kneyber MCJ, López-Fernández YM, Rotta AT, Werho DK, Baranwal AK, Blackwood B, Craven HJ, Curley MAQ, Essouri S, Fioretto JR, Hartmann SMM, Jouvet P, Korang SK, Rafferty GF, Ramnarayan P, Rose L, Tume LN, Whipple EC, Wong JJM, Emeriaud G, Mastropietro CW, Napolitano N, Newth CJL, Khemani RG
Am J Respir Crit Care Med 2023 Jan 1;207(1):17-28. doi: 10.1164/rccm.202204-0795SO. PMID: 36583619Free PMC Article
Johnson DW
BMJ Clin Evid 2014 Sep 29;2014 PMID: 25263284Free PMC Article
Vorwerk C, Coats T
Cochrane Database Syst Rev 2010 Feb 17;(2):CD006822. doi: 10.1002/14651858.CD006822.pub2. PMID: 20166089
Hensley M, Ray C
BMJ Clin Evid 2009 Jun 4;2009 PMID: 21726484Free PMC Article
Johnson D
BMJ Clin Evid 2009 Mar 10;2009 PMID: 19445760Free PMC Article

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