U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormality of the diaphragm

MedGen UID:
338566
•Concept ID:
C1848873
•
Anatomical Abnormality; Finding
Synonyms: Diaphragmatic defect; Diaphragmatic defects
 
HPO: HP:0000775

Definition

Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. [from HPO]

Conditions with this feature

Diaphragmatic defect-limb deficiency-skull defect syndrome
MedGen UID:
371377
•Concept ID:
C1832668
•
Disease or Syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.
See: Condition Record
Lethal congenital contracture syndrome 9
MedGen UID:
903881
•Concept ID:
C4225303
•
Disease or Syndrome
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
See: Condition Record
Diaphragmatic defect-limb deficiency-skull defect syndrome
Lethal congenital contracture syndrome 9

Professional guidelines

PubMed

Esophageal hiatal hernia: risk, diagnosis and management.
Yu HX, Han CS, Xue JR, Han ZF, Xin H
Expert Rev Gastroenterol Hepatol 2018 Apr;12(4):319-329. Epub 2018 Feb 22 doi: 10.1080/17474124.2018.1441711. PMID: 29451037
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
The medical management of abnormal uterine bleeding in reproductive-aged women.
Bradley LD, Gueye NA
Am J Obstet Gynecol 2016 Jan;214(1):31-44. Epub 2015 Aug 5 doi: 10.1016/j.ajog.2015.07.044. PMID: 26254516

Recent clinical studies

Etiology

A systematic review on clinical effectiveness, side-effect profile and meta-analysis on continuation rate of etonogestrel contraceptive implant.
Moray KV, Chaurasia H, Sachin O, Joshi B
Reprod Health 2021 Jan 6;18(1):4. doi: 10.1186/s12978-020-01054-y. PMID: 33407632Free PMC Article
Ever-use of the intra-uterine device and the risk of ovarian cancer.
Balayla J, Gil Y, Lasry A, Mitric C
J Obstet Gynaecol 2021 Aug;41(6):848-853. Epub 2020 Oct 12 doi: 10.1080/01443615.2020.1789960. PMID: 33045859
Mechanical Ventilation-induced Diaphragm Atrophy Strongly Impacts Clinical Outcomes.
Goligher EC, Dres M, Fan E, Rubenfeld GD, Scales DC, Herridge MS, Vorona S, Sklar MC, Rittayamai N, Lanys A, Murray A, Brace D, Urrea C, Reid WD, Tomlinson G, Slutsky AS, Kavanagh BP, Brochard LJ, Ferguson ND
Am J Respir Crit Care Med 2018 Jan 15;197(2):204-213. doi: 10.1164/rccm.201703-0536OC. PMID: 28930478
Contraception during the perimenopause.
Baldwin MK, Jensen JT
Maturitas 2013 Nov;76(3):235-42. Epub 2013 Aug 8 doi: 10.1016/j.maturitas.2013.07.009. PMID: 23932427
Porous diaphragm syndromes.
Kirschner PA
Chest Surg Clin N Am 1998 May;8(2):449-72. PMID: 9619316

Diagnosis

Diaphragmatic dysfunction.
Ricoy J, Rodríguez-Núñez N, Álvarez-Dobaño JM, Toubes ME, Riveiro V, Valdés L
Pulmonology 2019 Jul-Aug;25(4):223-235. Epub 2018 Dec 1 doi: 10.1016/j.pulmoe.2018.10.008. PMID: 30509855
Diaphragm Appearance: A Clue to the Diagnosis of Pulmonary and Extrapulmonary Pathology.
Abbey-Mensah GN, Waite S, Reede D, Hassani C, Legasto A
Curr Probl Diagn Radiol 2017 Jan-Feb;46(1):47-62. Epub 2015 Jul 26 doi: 10.1067/j.cpradiol.2015.07.010. PMID: 26383624
Imaging of the diaphragm: anatomy and function.
Nason LK, Walker CM, McNeeley MF, Burivong W, Fligner CL, Godwin JD
Radiographics 2012 Mar-Apr;32(2):E51-70. doi: 10.1148/rg.322115127. PMID: 22411950
Hiatal hernias.
Dean C, Etienne D, Carpentier B, Gielecki J, Tubbs RS, Loukas M
Surg Radiol Anat 2012 May;34(4):291-9. Epub 2011 Nov 22 doi: 10.1007/s00276-011-0904-9. PMID: 22105688
The diaphragm.
Maish MS
Surg Clin North Am 2010 Oct;90(5):955-68. doi: 10.1016/j.suc.2010.07.005. PMID: 20955877

Therapy

Congenital diaphragmatic hernia.
Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R
Nat Rev Dis Primers 2022 Jun 1;8(1):37. doi: 10.1038/s41572-022-00362-w. PMID: 35650272
Intrauterine Vacuum-Induced Hemorrhage-Control Device for Rapid Treatment of Postpartum Hemorrhage.
D'Alton ME, Rood KM, Smid MC, Simhan HN, Skupski DW, Subramaniam A, Gibson KS, Rosen T, Clark SM, Dudley D, Iqbal SN, Paglia MJ, Duzyj CM, Chien EK, Gibbins KJ, Wine KD, Bentum NAA, Kominiarek MA, Tuuli MG, Goffman D
Obstet Gynecol 2020 Nov;136(5):882-891. doi: 10.1097/AOG.0000000000004138. PMID: 32909970Free PMC Article
Mechanical Ventilation-induced Diaphragm Atrophy Strongly Impacts Clinical Outcomes.
Goligher EC, Dres M, Fan E, Rubenfeld GD, Scales DC, Herridge MS, Vorona S, Sklar MC, Rittayamai N, Lanys A, Murray A, Brace D, Urrea C, Reid WD, Tomlinson G, Slutsky AS, Kavanagh BP, Brochard LJ, Ferguson ND
Am J Respir Crit Care Med 2018 Jan 15;197(2):204-213. doi: 10.1164/rccm.201703-0536OC. PMID: 28930478
The medical management of abnormal uterine bleeding in reproductive-aged women.
Bradley LD, Gueye NA
Am J Obstet Gynecol 2016 Jan;214(1):31-44. Epub 2015 Aug 5 doi: 10.1016/j.ajog.2015.07.044. PMID: 26254516
Laparoscopy.
Gomel V
Can Med Assoc J 1974 Jul 20;111(2):167-9. PMID: 4276392Free PMC Article

Prognosis

Congenital diaphragmatic hernia.
Mehollin-Ray AR
Pediatr Radiol 2020 Dec;50(13):1855-1871. Epub 2020 Nov 30 doi: 10.1007/s00247-020-04718-w. PMID: 33252754
Update on Congenital Diaphragmatic Hernia.
Chatterjee D, Ing RJ, Gien J
Anesth Analg 2020 Sep;131(3):808-821. doi: 10.1213/ANE.0000000000004324. PMID: 31335403
Mechanical Ventilation-induced Diaphragm Atrophy Strongly Impacts Clinical Outcomes.
Goligher EC, Dres M, Fan E, Rubenfeld GD, Scales DC, Herridge MS, Vorona S, Sklar MC, Rittayamai N, Lanys A, Murray A, Brace D, Urrea C, Reid WD, Tomlinson G, Slutsky AS, Kavanagh BP, Brochard LJ, Ferguson ND
Am J Respir Crit Care Med 2018 Jan 15;197(2):204-213. doi: 10.1164/rccm.201703-0536OC. PMID: 28930478
Congenital diaphragmatic hernia.
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. PMID: 24528549
Ectopia cordis.
Puvabanditsin S, Di Stefano V, Garrow E, Wong R, Eng J, Balbin J
Hong Kong Med J 2013 Oct;19(5):447-50. doi: 10.12809/hkmj133737. PMID: 24088589

Clinical prediction guides

Intrauterine Vacuum-Induced Hemorrhage-Control Device for Rapid Treatment of Postpartum Hemorrhage.
D'Alton ME, Rood KM, Smid MC, Simhan HN, Skupski DW, Subramaniam A, Gibson KS, Rosen T, Clark SM, Dudley D, Iqbal SN, Paglia MJ, Duzyj CM, Chien EK, Gibbins KJ, Wine KD, Bentum NAA, Kominiarek MA, Tuuli MG, Goffman D
Obstet Gynecol 2020 Nov;136(5):882-891. doi: 10.1097/AOG.0000000000004138. PMID: 32909970Free PMC Article
Approach to Abnormal Uterine Bleeding in Adolescents.
Yaşa C, Güngör Uğurlucan F
J Clin Res Pediatr Endocrinol 2020 Feb 6;12(Suppl 1):1-6. doi: 10.4274/jcrpe.galenos.2019.2019.S0200. PMID: 32041387Free PMC Article
Update on Congenital Diaphragmatic Hernia.
Chatterjee D, Ing RJ, Gien J
Anesth Analg 2020 Sep;131(3):808-821. doi: 10.1213/ANE.0000000000004324. PMID: 31335403
Diaphragmatic dysfunction.
Ricoy J, Rodríguez-Núñez N, Álvarez-Dobaño JM, Toubes ME, Riveiro V, Valdés L
Pulmonology 2019 Jul-Aug;25(4):223-235. Epub 2018 Dec 1 doi: 10.1016/j.pulmoe.2018.10.008. PMID: 30509855
Mechanical Ventilation-induced Diaphragm Atrophy Strongly Impacts Clinical Outcomes.
Goligher EC, Dres M, Fan E, Rubenfeld GD, Scales DC, Herridge MS, Vorona S, Sklar MC, Rittayamai N, Lanys A, Murray A, Brace D, Urrea C, Reid WD, Tomlinson G, Slutsky AS, Kavanagh BP, Brochard LJ, Ferguson ND
Am J Respir Crit Care Med 2018 Jan 15;197(2):204-213. doi: 10.1164/rccm.201703-0536OC. PMID: 28930478

Recent systematic reviews

Breathing Exercises in Gastroesophageal Reflux Disease: A Systematic Review.
Zdrhova L, Bitnar P, Balihar K, Kolar P, Madle K, Martinek M, Pandolfino JE, Martinek J
Dysphagia 2023 Apr;38(2):609-621. Epub 2022 Jul 16 doi: 10.1007/s00455-022-10494-6. PMID: 35842548Free PMC Article
Bochdalek hernias in the adult population: a systematic review of the literature.
Katsaros I, Giannopoulos S, Katelani S, Vailas M, Sotiropoulou M, Papaconstantinou D, Giannakodimos I, Kapetanakis EI, Tomos P, Schizas D
ANZ J Surg 2022 Sep;92(9):2037-2042. Epub 2022 Mar 31 doi: 10.1111/ans.17651. PMID: 35357073
A systematic review on clinical effectiveness, side-effect profile and meta-analysis on continuation rate of etonogestrel contraceptive implant.
Moray KV, Chaurasia H, Sachin O, Joshi B
Reprod Health 2021 Jan 6;18(1):4. doi: 10.1186/s12978-020-01054-y. PMID: 33407632Free PMC Article
Life-threatening complications and mortality of minimally invasive pectus surgery.
Hebra A, Kelly RE, Ferro MM, Yüksel M, Campos JRM, Nuss D
J Pediatr Surg 2018 Apr;53(4):728-732. Epub 2017 Jul 31 doi: 10.1016/j.jpedsurg.2017.07.020. PMID: 28822540
The efficacy of levonorgestrel intrauterine systems for endometrial protection: a systematic review.
Wan YL, Holland C
Climacteric 2011 Dec;14(6):622-32. Epub 2011 Oct 23 doi: 10.3109/13697137.2011.579650. PMID: 22017273

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...