An Overview of Cloacal Exstrophy

A rare condition affecting abdominal development

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Anatomy of the human bladder, computer illustration.

Sebastian Kaulitzki/Science Photo Library/Getty Images

Cloacal exstrophy is a rare but serious birth defect. It affects approximately 1 in every 250,000 births. Children with cloacal exstrophy experience problems during the prenatal development of their abdominal organs. They may be born with parts of their organs exposed on the outside of the body. They also often experience other problems with development of the abdominal organs. For example, the bladder is often split into two halves, as are the rectum and colon.

Cloacal exstrophy must be treated with surgery. Surgery is focused primarily on restoring the function of the gastrointestinal tract. With this surgery, children with cloacal exstrophy can live a full life.

The term "cloacal" refers to the cloaca—a common cavity at the end of the digestive tract. Many vertebrate organisms have a cloaca. It releases both excrement and genital secretions. "Exstrophy" refers to the presence of all or part of an internal organ on the external part of the body. It is most often used for malformations of the abdominal organs, such as bladder exstrophy.

Symptoms

The classic symptom of cloacal exstrophy is the presence of parts of the abdominal organs on the outside of the body. Specifically, the organs stick out through the abdominal wall in the area of the umbilical cord, where you'd expect the belly button. This is known as an omphalocele. A small omphalocele may only contain parts of the intestine. A large omphalocele could mean that many of the abdominal organs are protruding from the abdominal cavity. These organs can include the intestine, liver, and spleen.

Bladder exstrophy is also a common component of cloacal exstrophy. It is also a condition that can happen on its own. It occurs in approximately 1 in 50,000 live births. The bladder is exposed to the outside surface of the body. It is also divided in half. Because of this division, the bladder can't hold urine.

Children with cloacal exstrophy may also not have an appropriately formed anus. The colon may be connected to the bladder rather than exiting properly. They may also have spinal problems, such as spina bifida.

Finally, the genitals of children with cloacal exstrophy may also have trouble forming. Male infants may have a split phallus and scrotum. The phallus may also be contained inside the bladder at the time of birth. Female infants may have a split clitoris or two vaginal openings. Some individuals have ambiguous genitalia

Causes

Cloacal exstrophy is thought to be caused by problems with the development of the lower abdominal wall and the abdominal organs during the development of the embryo. To date, doctors do not know why it occurs.

Cloacal exstrophy may occur more often during multiple gestation pregnancies, specifically with identical twins. Both twins are not necessarily affected.

Diagnosis

Cloacal exstrophy may be recognized at or before the time of birth. It is often detected for the first time during a prenatal ultrasound. Diagnosis will then be confirmed at the time of birth.

Treatment

Treating cloacal exstrophy usually requires an infant to undergo a series of surgeries over time. This is sometimes referred to as a staged reconstruction because the repairs are done in stages.

The specific components of the reconstruction will vary depending on the particulars of your child's condition. However, there are some elements of repair that are more common. These include:

  • Abdominal repair is generally performed near the time of birth. This usually includes closing the bladder and creating a colostomy. Closing the bladder allows it to hold the urine made by the kidneys. It can then be drained through the urethra. A colostomy is an opening from the large intestine to the surface of the skin. The intestine can release stool through this opening into a collection bag. This collection bag is known as a colostomy pouch. At the same time, the bladder is moved into the abdomen and the abdominal wall is closed.
  • Osteotomies are surgeries that are used to adjust the hip bones so that the pelvis can properly support the internal organs. Additional bladder surgeries are sometimes done at the same time.
  • Pull-through procedures can be done if the child is born with enough colon to produce solid stool. The pull-through procedure connects the colon to the rectum. This will allow the child to pass stool through the rectum.

Gender Assignment

Treatment of cloacal exstrophy may also involve surgery on the genitals. Cloacal exstrophy is, in part, a difference of sexual differentiation. Genital surgery for cloacal exstrophy is somewhat controversial. Historically, all individuals with cloacal exstrophy have been assigned female, due to the extensive problems seen with the structures of the phallus. However, many XY individuals with cloacal exstrophy develop male gender identities. Therefore, parents and doctors should have in-depth discussions about gender assignment and sex of rearing before making a decision on how to proceed.

Coping

When your child is diagnosed with cloacal exstrophy, it can feel scary. Your child will likely need a number of surgeries over a period of several years. They may also need to spend some time in the hospital.

Home care for these children is also different from other children. You may need to learn how to change a colostomy bag and teach that skill to other caregivers. Your child may also have other special needs.

It's important to remember that children with cloacal exstrophy can live long, healthy lives. Their lives may be different in some ways than the lives of other children, but that doesn't mean they're worse.

As a child or adult with cloacal exstrophy, you may face particular challenges around relationships and sexuality. Your sexual organs may be different than what you or your partners expect. You may also be dealing with a colostomy bag or other issues that can be complicated to explain to a partner. Try not to be discouraged. People with cloacal exstrophy can and do have loving and sexual relationships. It is also often possible for people with this condition to have children, with the help of assisted reproduction techniques.

A Word From Verywell

If you are dealing with cloacal exstrophy, it's important to seek out support. If you're a parent, surgeons at children's hospitals that specialize in this condition may be able to connect you to other parents coping with this diagnosis. There are also online support groups for parents dealing with cloacal and bladder exstrophy.

If you're a child, adolescent, or adult with cloacal exstrophy, support is available for you too! It can be helpful to talk to others who are living with similar conditions. After all, another teen figuring out how to deal with her colostomy bag at prom may be easier to talk to than even the most sympathetic adult! Online communities, such as the one at Courage to Shine, can also help you see how others are living, and thriving with cloacal exstrophy and related conditions.

Remember, it's normal to feel overwhelmed sometimes. Don't be afraid to seek out help and information. Talk to your doctor, or seek out a therapist who specializes in working with individuals with chronic health conditions. There are many people who can get you the information and support you need.

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