U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypoplasia of the diaphragm

MedGen UID:
868082
•Concept ID:
C4022473
•
Anatomical Abnormality
Synonym: Underdeveloped diaphragm
 
HPO: HP:0040044

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the diaphragm

Conditions with this feature

Cutis laxa, autosomal recessive, type 1B
MedGen UID:
482428
•Concept ID:
C3280798
•
Disease or Syndrome
EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.
See: Condition Record
Cutis laxa, autosomal recessive, type 1B

Professional guidelines

PubMed

Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.
Cannata G, Caporilli C, Grassi F, Perrone S, Esposito S
Int J Mol Sci 2021 Jun 14;22(12) doi: 10.3390/ijms22126353. PMID: 34198563Free PMC Article
Prenatal diagnosis and management of congenital diaphragmatic hernia.
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144
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

Recent clinical studies

Etiology

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
MRI of the Pancreas.
Harrington KA, Shukla-Dave A, Paudyal R, Do RKG
J Magn Reson Imaging 2021 Feb;53(2):347-359. Epub 2020 Apr 17 doi: 10.1002/jmri.27148. PMID: 32302044
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
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
Congenital diaphragmatic hernia.
Keijzer R, Puri P
Semin Pediatr Surg 2010 Aug;19(3):180-5. doi: 10.1053/j.sempedsurg.2010.03.001. PMID: 20610190

Diagnosis

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
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
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
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
Contraception during perimenopause.
Kailas NA, Sifakis S, Koumantakis E
Eur J Contracept Reprod Health Care 2005 Mar;10(1):19-25. doi: 10.1080/13625180400020861. PMID: 16036294

Therapy

The Management of Pregnant Trauma Patients: A Narrative Review.
Lopez CE, Salloum J, Varon AJ, Toledo P, Dudaryk R
Anesth Analg 2023 May 1;136(5):830-840. Epub 2023 Apr 14 doi: 10.1213/ANE.0000000000006363. PMID: 37058718
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
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
Contraception during perimenopause.
Kailas NA, Sifakis S, Koumantakis E
Eur J Contracept Reprod Health Care 2005 Mar;10(1):19-25. doi: 10.1080/13625180400020861. PMID: 16036294
Antifertility agents.
Tyler ET
Annu Rev Pharmacol 1967;7:381-98. doi: 10.1146/annurev.pa.07.040167.002121. PMID: 5337087

Prognosis

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
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
Congenital diaphragmatic hernia.
Tovar JA
Orphanet J Rare Dis 2012 Jan 3;7:1. doi: 10.1186/1750-1172-7-1. PMID: 22214468Free PMC Article
Congenital diaphragmatic hernia.
Keijzer R, Puri P
Semin Pediatr Surg 2010 Aug;19(3):180-5. doi: 10.1053/j.sempedsurg.2010.03.001. PMID: 20610190
Contraception during perimenopause.
Kailas NA, Sifakis S, Koumantakis E
Eur J Contracept Reprod Health Care 2005 Mar;10(1):19-25. doi: 10.1080/13625180400020861. PMID: 16036294

Clinical prediction guides

Beyond the diaphragm and the lung: a multisystem approach to understanding congenital diaphragmatic hernia.
Antounians L, Zani A
Pediatr Surg Int 2023 May 9;39(1):194. doi: 10.1007/s00383-023-05471-5. PMID: 37160490
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
Prenatal diagnosis and management of congenital diaphragmatic hernia.
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144
Accessory hemi diaphragm.
Radhakrishnan J, Bean J, Piazza DJ, Chin AC
J Pediatr Surg 2014 Aug;49(8):1326-31. doi: 10.1016/j.jpedsurg.2014.03.005. PMID: 25092100
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

Recent systematic reviews

Intradiaphragmatic Bronchogenic Cysts: Case Report and Systematic Review.
Mubang R, Brady JJ, Mao M, Burfeind W, Puc M
J Cardiothorac Surg 2016 May 5;11(1):79. doi: 10.1186/s13019-016-0444-9. PMID: 27150959Free PMC Article
Uterine cavity calcifications: a report of 7 cases and a systematic literature review.
Pereira MC, Vaz MM, Miranda SP, Araújo SR, Menezes DB, das Chagas Medeiros F
J Minim Invasive Gynecol 2014 May-Jun;21(3):346-52. Epub 2013 Nov 25 doi: 10.1016/j.jmig.2013.11.001. PMID: 24287059
Hemoglobin measurement prior to initiating copper intrauterine devices: a systematic review.
Tepper NK, Steenland MW, Marchbanks PA, Curtis KM
Contraception 2013 May;87(5):639-44. Epub 2012 Oct 4 doi: 10.1016/j.contraception.2012.08.008. PMID: 23040123
Ultrasound-guided hysteroscopy to remove a levonorgestrel intrauterine system in early pregnancy.
McCarthy EA, Jagasia N, Maher P, Robinson M
Contraception 2012 Nov;86(5):587-90. Epub 2012 Apr 11 doi: 10.1016/j.contraception.2012.03.004. PMID: 22497757

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

    • 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...