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Omphalocele

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Description: Omphalocele is a congenital defect where an infant's intestines, liver, or other organs protrude outside of the abdomen through the navel, enclosed in a translucent sac.
Type: Omphalocele is a congenital birth defect where the infant's intestines, liver, or other organs protrude outside of the abdomen through the belly button. There is no single type of genetic transmission for omphalocele, but it can be associated with genetic syndromes such as Beckwith-Wiedemann syndrome and trisomies 13 and 18. Most cases are sporadic, although some may have a multifactorial inheritance pattern involving both genetic and environmental factors.
Signs And Symptoms: The sac, which is formed from an outpouching of the peritoneum, protrudes in the midline, through the umbilicus (navel).It is normal for the intestines to protrude from the abdomen, into the umbilical cord, until about the tenth week of pregnancy, after which they return to inside the fetal abdomen. The omphalocele can be mild, with only a small loop of intestines present outside the abdomen, or severe, containing most of the abdominal organs. In severe cases surgical treatment is made more difficult because the infant's abdomen is abnormally small, having had no need to expand to accommodate the developing organs.
Larger omphaloceles are associated with a higher risk of cardiac defects.
Prognosis: Omphalocele is a congenital abdominal wall defect where the intestines, liver, and occasionally other organs remain outside the abdomen in a sac because of a failure in the closure of the abdominal wall. The prognosis for infants with omphalocele largely depends on the size of the defect and the presence of associated abnormalities or genetic conditions. For isolated omphalocele (no other major anomalies), the prognosis is generally good with appropriate surgical and medical management. However, if there are significant associated anomalies, such as cardiac defects or chromosomal abnormalities, the prognosis may be less favorable. Early and multidisciplinary medical intervention is crucial for improving outcomes.
Onset: Omphalocele is a congenital condition, meaning it is present at birth.
Prevalence: Omphalocele occurs with a prevalence of approximately 1 in 4,000 to 1 in 7,000 live births.
Epidemiology: Omphalocele is a congenital defect characterized by the protrusion of abdominal organs through the umbilical ring, covered by a membrane. Here's an overview of its epidemiology:

- The incidence of omphalocele ranges from approximately 1 in 4,000 to 1 in 10,000 live births, with some variation based on geographic and demographic factors.
- It is frequently associated with other congenital anomalies, including chromosomal abnormalities like trisomy 13, trisomy 18, and trisomy 21.
- There is a slightly higher prevalence in male infants compared to female infants.
- Omphalocele risk factors may include maternal obesity and advanced maternal age.
Intractability: Omphalocele is a congenital condition characterized by the protrusion of abdominal organs through the base of the umbilical cord. Its intractability can vary depending on several factors, including the size of the defect, associated anomalies, and the presence of related syndromes. With appropriate surgical intervention and post-operative care, many cases of omphalocele can be effectively managed, though severe cases may present more complex challenges.
Disease Severity: Omphalocele is a congenital condition where an infant's intestines or other abdominal organs protrude through the belly button, covered by a thin membrane.

**Disease Severity:**
The severity of an omphalocele can vary widely. Small omphaloceles involving only a few loops of intestine may be less severe and easier to repair. However, large omphaloceles that include the liver and other organs can be significantly more severe, leading to complications such as infections, breathing difficulties, and other congenital anomalies. The condition often requires surgical intervention shortly after birth, and the prognosis depends on the size of the omphalocele and the presence of associated abnormalities.

**Nan:**
This term does not apply to omphalocele in the context provided. If "nan" refers to "not a number" in a medical context, it is not relevant to the description of this condition. If you have a specific context or meaning for "nan" you want to inquire about, please provide more details.
Healthcare Professionals: Disease Ontology ID - DOID:0060327
Pathophysiology: Exomphalos is caused by a failure of the ventral body wall to form and close the naturally occurring umbilical hernia that occurs during embryonic folding which is a process of embryogenesis. The normal process of embryogenesis is that at 2 weeks gestation the human embryo is a flat disc that consists of three layers, the outer ectoderm and inner endoderm separated by a middle layer called the mesoderm. The ectoderm gives rise to skin and the CNS, the mesoderm gives rise to muscle and the endoderm gives rise to organs. The focus areas for exomphalos are that the ectoderm will form the umbilical ring, the mesoderm will form the abdominal muscles and the endoderm will form the gut. After the disc becomes tri-layered, it undergoes growth and folding to transform it from disc to cylinder shaped. The layer of ectoderm and mesoderm in the dorsal axis grow ventrally to meet at the midline. Simultaneously, the cephalic (head) and caudal (tail) ends of these layers of the disc fold ventrally to meet the lateral folds in the center. The meeting of both axis at the center form the umbilical ring. Meanwhile, the endoderm migrates to the center of this cylinder.By the fourth week of gestation the umbilical ring is formed. During the 6th week the midgut rapidly grows from the endoderm which causes a herniation of the gut through the umbilical ring. The gut rotates as it re-enters the abdominal cavity which allows for the small intestine and colon to migrate to their correct anatomical position by the end of the 10th week of development. This process fails to occur normally in cases of exomphalos, resulting in abdominal contents protruding from the umbilical ring.Gut contents fail to return to the abdomen due to a fault in myogenesis (muscle formation and migration during embryogenesis). During embryogenesis the mesoderm that forms muscle divides into several somites that migrate dorso-ventrally towards the midline. The somites develop three parts that are sclerotome which will form bone, dermatome which will form skin of the back and myotome which will form muscle. The somites that remain close to the neural tube at the back of the body have epaxial myotome, whilst the somites that migrate to the midline have hypaxial myotome. The hypaxial myotome forms the abdominal muscles. The myotome cells will give rise to myoblasts (embryonic progenitor cells) which will align to form myotubules and then muscle fibers. Consequently, the myotome will become three muscle sheets that form the layers of abdominal wall muscles. The muscle of concern for exomphalos is the rectus abdominis. In the disease the muscle undergoes normal differentiation but fails to expand ventro-medially and narrow the umbilical ring which causes the natural umbilical hernia that occurs at 6 weeks of gestation to remain external to the body.The location of the folding defect in the embryo determines the ultimate position of the exomphalos. A cephalic folding defect results in an epigastric exomphalos that is positioned high up on the abdomen which can be seen in the chromosomal defect pentalogy of Cantrell. Lateral folding defects result in a typical exomphalos that is positioned in the middle of the abdomen. A caudal folding defect results in a hypogastric exomphalos that is positioned on the lower abdomen.
Carrier Status: Carrier status is not typically applicable to omphalocele. Omphalocele is a congenital condition where the infant's intestines or other abdominal organs protrude through the belly button. It is not usually classified as a genetic disorder that involves carrier status, unlike conditions like cystic fibrosis or sickle cell anemia. However, it can be associated with certain genetic syndromes and chromosomal abnormalities.
Mechanism: Omphalocele is a congenital malformation characterized by the herniation of abdominal organs into the base of the umbilical cord, covered by a membranous sac. The exact mechanism leading to omphalocele involves a failure of the intestines to return to the abdominal cavity during fetal development, usually around the 10th week of gestation.

Molecular mechanisms include disruptions in the expression and regulation of genes critical for normal abdominal wall development. Several genetic pathways and chromosomal abnormalities have been implicated, including anomalies in the HOX gene family, which play a crucial role in body patterning. Other genetic factors implicated include trisomies (such as trisomy 13 and 18) and specific syndromes (like Beckwith-Wiedemann Syndrome). These genetic and environmental factors can interfere with the normal rotation and fixation of the intestines, leading to the persistence of an abdominal wall defect.
Treatment: Omphalocele is a congenital condition characterized by an infant's intestines or other abdominal organs protruding outside the belly through the umbilical cord.

Treatment typically involves:
1. Immediate Stabilization: Once the baby is born, the exposed organs are covered with a sterile dressing to prevent infection and dehydration.
2. Surgical Repair: Depending on the size of the omphalocele, surgery may be performed shortly after birth or in stages. For small omphaloceles, the organs may be placed back into the abdominal cavity and the opening closed surgically. For larger omphaloceles, a staged approach might be necessary where the organs are gradually moved back into the abdomen over time.
3. Supportive Care: The baby will often require additional support such as mechanical ventilation, nutritional support, and treatment for other associated anomalies or preterm birth complications.
4. Long-term Follow-up: Monitoring for potential complications such as respiratory issues, feeding difficulties, and developmental delays.

The specific treatment plan can vary based on the omphalocele size, the presence of additional anomalies, and the overall health of the infant.
Compassionate Use Treatment: Omphalocele is a congenital condition where an infant's intestines, liver, or other organs protrude outside the abdomen through the belly button. Current standard treatments focus on surgical correction after birth. There is limited data on compassionate use treatments, off-label, or experimental therapies specifically for omphalocele. However, research and approaches may include:

1. **Prenatal Interventions**: Some experimental approaches focus on fetal surgery to correct the defect before birth. This carries significant risks and is not widely adopted.

2. **Tissue Engineering and Stem Cell Therapy**: Investigational treatments involving tissue engineering and stem cell therapy might be explored in the future to support abdominal wall reconstruction and healing.

3. **Pharmacological Treatments**: Compassionate use of specific medications may be considered to manage complications associated with omphalocele, such as infections or pulmonary hypoplasia (underdeveloped lungs).

Standard treatment protocols should always be followed, with any experimental or off-label treatments considered under rigorous medical supervision and ethical guidelines.
Lifestyle Recommendations: Lifestyle recommendations for omphalocele primarily involve ensuring that the condition is managed and treated appropriately, often requiring surgical intervention. After treatment, the focus on lifestyle adjustments is tailored to the individual's recovery and overall health needs:

1. **Regular Medical Follow-ups:** Consistent check-ups with healthcare providers to monitor growth and development are crucial.

2. **Nutrition:** Adequate and balanced nutrition is vital. Depending on the severity and treatment, some children may need specialized dietary plans.

3. **Activity Limitations:** Initially, there might be some restrictions on strenuous activities to ensure proper healing post-surgery.

4. **Wound Care:** Proper care of surgical sites as instructed by the healthcare provider to prevent infections.

5. **Developmental Support:** Engage in physical and occupational therapy if recommended to support motor skills and overall development.

6. **Parental Education:** Parents should be well informed about signs of potential complications and when to seek medical advice.

7. **Emotional and Social Support:** Encourage a normal routine for social interactions while being mindful of any physical limitations.

Adhering to these recommendations can help facilitate a smooth recovery and support overall health and well-being.
Medication: Omphalocele is a congenital condition where the infant's intestines, liver, or other organs stick outside of the belly through the belly button. Treatment primarily involves surgical repair to place the organs back inside the abdomen and close the opening. Medications are not the primary treatment but may be used to manage associated symptoms or complications, such as antibiotics to prevent infection or medications to assist with pain management during the perioperative period.
Repurposable Drugs: For omphalocele, which is a congenital abdominal wall defect where organs remain outside the abdomen in a sac, there are currently no specific repurposable drugs that are established as effective treatments. The primary treatment is surgical intervention to place the organs back into the abdominal cavity and repair the defect. Management may include supportive care to address associated complications and comorbidities. Research into pharmacological options and drug repurposing is ongoing, but no specific repurposable drugs are yet recognized for treating this condition effectively.
Metabolites: For omphalocele, there are no specific metabolites directly associated with the condition. Omphalocele is a congenital defect where the intestines or other abdominal organs protrude outside of the baby's body through the navel. Diagnosis and management primarily focus on surgical correction and supportive care rather than on metabolic factors.
Nutraceuticals: Nutraceuticals are not a standard treatment for omphalocele. Omphalocele is a congenital condition where the infant's intestines or other abdominal organs protrude through the belly button due to an opening in the abdominal wall. Treatment typically involves surgical intervention shortly after birth to place the organs back into the abdomen and close the opening. Nutritional support may be required, depending on the extent of the defect and the infant's overall health, but this is generally managed with medical nutrition therapy rather than nutraceuticals.
Peptides: Omphalocele is a congenital defect where an infant's intestines, liver, or other organs protrude outside the abdomen through the belly button. Concerning peptides and nanotechnology, these areas are at the frontier of research for treatment and management:

1. **Peptides**: Research into peptides for omphalocele may involve their use in promoting tissue repair and healing, supporting normal muscle and tissue development, and possibly reducing inflammation.

2. **Nanotechnology (Nan)**: Nanotechnology could be explored for targeted drug delivery systems, enhancing regenerative medicine approaches, and potentially developing materials for surgical repair that integrate more effectively with the body’s tissues.

While these are promising areas of research, they are largely experimental and not yet standard practice in the treatment of omphalocele.