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Diaphragmatic hernia 3(DIH3)

MedGen UID:
347546
Concept ID:
C1857781
Anatomical Abnormality
Synonym: DIH3
 
Gene (location): ZFPM2 (8q23.1)
 
Monarch Initiative: MONDO:0012431
OMIM®: 610187

Definition

In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.

Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.

Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth. [from MedlinePlus Genetics]

Clinical features

From HPO
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.

Professional guidelines

PubMed

Harmath A, Csaba A, Hauzman E, Hajdú J, Pete B, Papp Z
J Clin Ultrasound 2007 Jun;35(5):250-5. doi: 10.1002/jcu.20341. PMID: 17373682
Baumgart S, Hirschl RB, Butler SZ, Coburn CE, Spitzer AR
Pediatrics 1992 Mar;89(3):491-4. PMID: 1741226
Meizner I, Bar-Ziv J, Insler V
Isr J Med Sci 1986 May;22(5):350-4. PMID: 3528048

Recent clinical studies

Therapy

Smith PC, Slaughter MS, Petty MG, Shumway SJ, Kshettry VR, Bolman RM 3rd
J Heart Lung Transplant 1995 Jan-Feb;14(1 Pt 1):44-51. PMID: 7727475

Prognosis

Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA
Am J Hum Genet 2023 Oct 5;110(10):1787-1803. Epub 2023 Sep 25 doi: 10.1016/j.ajhg.2023.09.002. PMID: 37751738Free PMC Article
Bevilacqua F, Morini F, Valfrè L, Ravà L, Braguglia A, Zaccara A, Bagolan P, Aite L
Am J Perinatol 2014 Mar;31(3):175-80. Epub 2013 Apr 24 doi: 10.1055/s-0033-1343773. PMID: 23616072
Smith PC, Slaughter MS, Petty MG, Shumway SJ, Kshettry VR, Bolman RM 3rd
J Heart Lung Transplant 1995 Jan-Feb;14(1 Pt 1):44-51. PMID: 7727475
Baumgart S, Hirschl RB, Butler SZ, Coburn CE, Spitzer AR
Pediatrics 1992 Mar;89(3):491-4. PMID: 1741226
Atkinson JB, Kitagawa H, Humphries B
J Pediatr Surg 1992 Sep;27(9):1197-8. doi: 10.1016/0022-3468(92)90786-7. PMID: 1432528

Clinical prediction guides

Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA
Am J Hum Genet 2023 Oct 5;110(10):1787-1803. Epub 2023 Sep 25 doi: 10.1016/j.ajhg.2023.09.002. PMID: 37751738Free PMC Article
Bevilacqua F, Morini F, Valfrè L, Ravà L, Braguglia A, Zaccara A, Bagolan P, Aite L
Am J Perinatol 2014 Mar;31(3):175-80. Epub 2013 Apr 24 doi: 10.1055/s-0033-1343773. PMID: 23616072
Baumgart S, Hirschl RB, Butler SZ, Coburn CE, Spitzer AR
Pediatrics 1992 Mar;89(3):491-4. PMID: 1741226

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