Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Gastroschisis

What is Gastroschisis?

• Gastroschisis is a birth defect that causes the infant’s intestines to appear outside the body
  • The organs emerge from a small opening next to the belly button
• At times, other organs, such as the liver or stomach, may also appear
• The condition is similar to omphalocele, another condition in which the intestines appear outside of the abdominal wall
  • However, in omphalocele, the intestines are covered by a membrane, which is absent in gastroschisis
• Rates of gastroschisis have been increasing in recent years
• Diagnosis usually occurs via ultrasound or at birth
• Incidence rate is about two to five per 10,000 live births

How Do You Get It?

• The cause of gastroschisis remains a mystery. However, there are several factors that appear to increase risk.
• Risk factors include:
  • The mother is younger than 20 years
  • The mother smokes or consumes alcohol during the pregnancy
• Genetic issues can be a factor in a small number of cases
• The development of the defect isn’t well understood, but six different hypotheses have been proposed:
  • Failure of incorporation of the yolk sac and related structures
  • Rupture of the amnion near the umbilical ring, leading to bowel hernia
  • Failure of the mesoderm to develop in the body wall
  • Unusual formation of the body wall, resulting in a ventral defect of the wall
  • Abnormal involution of the right umbilical vein, causing weakness of the body wall and hernia
  • Disrupted right yolk sac artery, causing body wall damage and hernia

What Are The Symptoms?

• The primary symptom is the presence of the intestines, along with potentially other organs, outside of the abdomen.
• There are no signs and symptoms during the pregnancy
• Premature birth is common, at around 60 percent
• The opening is generally less than 4 cm wide and is usually to the right of the belly button
• Potential complications of gastroschisis include:
  • Intrauterine growth restriction
  • Intestinal atresia
  • Feeding issues
• Survival rates with proper treatment is 90 percent, but gastroschisis is fatal without proper and timely treatment

How Is It Treated?

• Treatment for gastroschisis relies on surgery to get the organs back into the abdominal cavity and closure of the hole
  • In some cases, the operation is conducted as soon as possible, but in many cases the organs are covered in sterile drapings and then surgery is performed at a later time
  • More than one surgery is necessary in most cases; only ten percent of cases can be treated with a single operation
• Delivery is recommended at a hospital with proper equipment to handle the necessary procedures
• Recovery may take some time in order to normalize bowel function

Where Can I Learn More???

• Learn more about this disease from the Global Gastroschisis Foundation.
• Check out our cornerstone on this disease here.