Exomphalos. Morgagni

Exomphalos major (also called large omphalocele) with a Morgagni hernia is a rare and complex congenital anomaly involving both abdominal wall and diaphragmatic defects. Here’s a breakdown:

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Exomphalos Major (Large Omphalocele):

• Definition: A midline abdominal wall defect at the base of the umbilical cord.
• Herniation: Contains liver and bowel, covered by a membranous sac.
• Major: Defined by sac size >4–5 cm or liver protrusion.
• Associated anomalies (in ~50-70% cases):
  
• Cardiac defects
• Chromosomal abnormalities (e.g. trisomy 13, 18, Beckwith-Wiedemann syndrome)
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Morgagni Hernia:

• Definition: A congenital diaphragmatic hernia (CDH) located anteriorly, through the foramen of Morgagni (retrosternal).
• Contents: Usually includes bowel, omentum, or rarely liver.
• Often asymptomatic, but can cause respiratory or GI symptoms if large.

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Combined Presentation:

• Very rare to have both conditions.
• Pathophysiology:
  
• Both result from impaired embryologic closure: abdominal wall + diaphragm.
• Herniation of liver or bowel may extend through both defects.
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• Diagnosis:
  
• Antenatal ultrasound or postnatal imaging (X-ray, CT, MRI).
• Exomphalos visible on prenatal scan.
• Morgagni hernia often found incidentally or during surgical exploration.
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Management:

Issue	Approach
Exomphalos Major	Delayed closure, silo technique, staged repair.
Morgagni Hernia	Surgical repair — often done electively unless complications arise.
Combined Case	Multidisciplinary team (pediatrics, surgery, genetics, cardiology).

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Genetic Testing and Workup:

• Karyotyping and microarray strongly recommended.
• Look for syndromes like:
  
• Beckwith-Wiedemann
• Trisomy 13/18
• Pentalogy of Cantrell (if other midline defects present)
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✅ Summary:

Exomphalos major with Morgagni hernia is a rare but serious combination of congenital defects involving both the abdominal wall and diaphragm. Requires careful imaging, genetic evaluation, and staged surgical management by a specialized pediatric team.

Would you like a diagram or table comparing this with other abdominal wall defects (like gastroschisis)?