Omphalocele
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Omphalocele | |
|---|---|
| Synonyms | Exomphalos |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Abdominal wall defect, intestines outside the body |
| Complications | Infection, breathing difficulties, feeding problems |
| Onset | Congenital |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic disorder, environmental factors |
| Risks | Advanced maternal age, obesity, smoking |
| Diagnosis | Prenatal ultrasound, physical examination |
| Differential diagnosis | Gastroschisis, umbilical hernia |
| Prevention | Prenatal care, genetic counseling |
| Treatment | Surgery, supportive care |
| Medication | N/A |
| Prognosis | Depends on size and associated anomalies |
| Frequency | 1 in 4,000 to 1 in 10,000 live births |
| Deaths | Varies based on severity and treatment |
Omphalocele is a birth defect that occurs when an infant's abdomen does not develop fully while in the mother's womb. The infant's intestines, liver, or other organs stick outside of the belly through the belly button. The organs are covered in a thin, nearly transparent sac that is often mistaken for the umbilical cord.
Causes
The exact cause of omphalocele is unknown, but it is thought to occur early in the development of the fetus. Some researchers believe that it may be related to other genetic conditions, such as Beckwith-Wiedemann syndrome and Pentalogy of Cantrell. It is also associated with an increased risk of chromosome abnormalities and cardiac defects.
Symptoms
The most obvious symptom of omphalocele is the presence of a sac protruding from the infant's belly button. This sac contains the infant's organs. Other symptoms may include abdominal swelling, difficulty breathing, and heart defects.
Diagnosis
Omphalocele can often be diagnosed before birth through a routine ultrasound. After birth, the diagnosis can be confirmed through a physical examination and imaging tests such as an X-ray or MRI.
Treatment
The treatment for omphalocele depends on the size of the omphalocele and the presence of other birth defects. Treatment options may include surgery to return the organs to the abdomen and close the opening, or non-surgical treatments such as a special "paint" to gradually shrink the omphalocele.
Prognosis
The prognosis for infants with omphalocele varies widely. Some infants with small omphaloceles and no other birth defects may have a good prognosis, while others with large omphaloceles or additional birth defects may have a poorer prognosis.
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Contributors: Kondreddy Naveen, Prab R. Tumpati, MD