OEIS Syndrome (Cloacal Exstrophy)

OEIS syndrome (pronounced “kloh-EY-kel” “EK-struh-fee”) is a rare congenital condition (birth defect) that affects how the lower abdominal wall, intestines and urinary bladder form during fetal development. This results in the bladder and part of the intestines being outside of the body at birth.

In addition, babies with cloacal exstrophy usually have other associated abnormalities at birth. The abnormalities affect other abdominal organs, the anus/rectum, genital (penis or vagina) formation, the spinal cord and lower limbs.

Other names for OEIS syndrome are OEIS complex and cloacal exstrophy. Healthcare providers sometimes use the “OEIS” names because the condition causes the following conditions:

• Omphalocele: As the abdominal wall doesn’t form as expected, there’s a hole near the belly button/umbilical cord. Some of the abdominal organs come out of this hole. The organs are in a membrane or sac (omphalocele).
• Exstrophy of the bladder and rectum: The bladder opens up like a flat plate instead of a hollow sphere. It may split into halves. The pelvic bones don’t join correctly and are far apart. The rectum and colon may also be open and split in half. There may be extra parts of the intestines and internal reproductive organs. The genitals may also be split and smaller than expected.
• Imperforate anus: The anus is the last part of the digestive system where poop comes out. In cloacal exstrophy, the opening to the anus doesn’t form. The intestines may be shorter than expected. This can affect how your body absorbs nutrients when you eat.
• Spinal defects: As many as 3 out of 4 infants with cloacal exstrophy also have spina bifida, which is when the spinal cord doesn’t close. This allows a sac of fluid (and sometimes nerves) to bulge through the opening. Spina bifida affects the nerves to the bladder, bowel and legs.

Symptoms of OEIS syndrome

OEIS syndrome symptoms are visible at birth and may include:

• Organs in a sac coming through an opening in your baby’s belly
• Exposed, open bladder and intestines in the lower abdomen
• An abnormal opening in the lower back where you can see the spinal cord or it is coming out
• The penis and scrotum are split into two halves, which are very small and short
• The clitoris and labia are split into two halves and there may be extra vaginas and uteruses

Cloacal exstrophy causes

Healthcare providers don’t know why some babies develop cloacal exstrophy. And there’s no known way to prevent it before or during pregnancy. Something happens during the first trimester of pregnancy that causes the cloacal membrane to tear or break apart.

The cloaca is the area where the male/female reproductive system, digestive system and urinary system come together. The cloacal membrane usually separates the organs in these systems. But if the membrane tears or breaks apart, the fetus’s abdominal wall doesn’t form completely. Organs don’t develop as they should or may connect incorrectly. Some organs poke through an abdominal opening.

Complications of cloacal exstrophy

Cloacal exstrophy increases the risk of:

• Inability to control when you pee (urinary incontinence)
• Inability to control when you poop (fecal incontinence)
• Problems with walking and muscle strength (paraplegia)
• Kidney failure
• Kidney infections
• Kidney stones
• Chronic kidney disease (CKD)
• Kidney failure
• Sexual dysfunction, including erectile dysfunction
• Inability to get pregnant (infertility)

How doctors diagnose cloacal exstrophy

Healthcare providers usually diagnose cloacal exstrophy during a prenatal ultrasound. They may also recommend a fetal MRI, which provides more detailed images of fetal organs. These tests may reveal:

• The bladder isn’t filling or emptying properly
• Widely separated pelvic bones
• Small penis
• The umbilical cord sits too low on the fetus’s belly
• Abdominal wall abnormalities with a sac that bulges out and may contain organs
• Exposed spinal cord or it’s coming out

After birth, your baby may get other imaging tests to see how severe the condition is and how well their organs work. This information helps your child’s provider develop a treatment plan. These tests may include an MRI, abdominal ultrasound and other tests.

What surgery is done for OEIS syndrome?

All newborns with OEIS syndrome need staged surgical reconstruction. It’s a series of surgeries that take place over many years. During these surgeries, healthcare providers put your baby’s organs in their proper places and close the abdominal and spinal openings.

Treatments soon after birth may include:

• Fixing the bladder, placing organs back into the abdominal cavity and closing the opening in the abdomen.
• Creating a temporary opening (stoma) in the abdominal wall (colostomy). The opening allows the large intestine to empty poop into a bag outside the body. Your baby may need a colostomy bag until they can get other surgeries.
• Repairing the spinal cord and closing the back.

Treatments during early childhood may include:

• Cutting and realigning the pelvic bones (osteotomy). This procedure allows the pelvis to close more easily and supports the bladder as your child grows.
• Closing the bladder and reconstructing the genitals
• Creating an anal opening. If there’s enough large intestine, your child’s surgeon may perform a pull-through surgery. A pull-through surgery connects the large intestine to the rectum. The surgeon then closes the stoma. Your child will no longer need a colostomy bag.

Your child will usually need other surgeries on their bladder as they grow.

Outlook and recovery

Your child will likely need multiple surgeries over many years. It can take years because your child needs to grow and develop in between procedures. But improvements in surgical approaches, anesthesia and infant nutrition have helped increase cloacal exstrophy survival rates. Your child will have a team of specialists to help manage their long-term needs.

Your child’s recovery depends on the severity of their cloacal exstrophy and how many procedures they need. You may need special strategies for managing their pee and poop. Their medical team will give you a better idea of what to expect according to your child’s specific situation.

The goals of treatment are to:

• Protect kidney function
• Keep urinary infection rates low
• Help develop strategies for peeing and pooping

When should my child see a healthcare provider?

You’ll work closely with your child’s healthcare providers to learn about and manage their care and learn how to prevent infections. As your child grows and develops, their providers may recommend additional procedures.

During your appointments, you may wish to ask the following questions:

• Does my child have a higher risk of any other health conditions?
• What treatment do you recommend?
• How many surgeries will my child need?
• What complications do I need to be aware of after surgery?
• What are the chances that another biological child of mine will have OEIS syndrome?
• Will my child be able to have biological children when they’re older?

What can I expect if my child has this condition?

OEIS syndrome is a complex condition that can cause many complicated feelings. You might feel scared or helpless. But you’ll have a care team to support you. A team-based approach to your child’s care is very important. The team may include:

• Pediatric surgeon
• Pediatric urologist
• Pediatric neurosurgeon
• Genetic counselors
• Psychologist
• Pediatric gastroenterologist
• Social worker
• Physical therapist

It’s important to schedule regular appointments with your child’s providers so they can check on your child’s health and schedule any other necessary treatments. They can also recommend support groups. If you have any questions, reach out to them for help.

What’s the difference between bladder exstrophy and cloacal exstrophy?

Cloacal exstrophy is a more severe condition that involves more areas of the body. It usually affects the bladder, genitals, spinal cord and bowel.

Bladder exstrophy is typically just one part of cloacal exstrophy. Classic bladder exstrophy only affects the external genitals and bladder. The bladder and genitals are “opened up.” The bladder is outside the body at birth.