Cloacal Exstrophy: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Cloacal Exstrophy?
A pediatric urologist (a doctor who treats urinary problems in children) and a pediatric surgeon (a surgeon who operates on children) are the main doctors for cloacal exstrophy. Care needs a coordinated plan with input from several specialists. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is cloacal exstrophy?
Cloacal exstrophy is a complex birth defect. Some internal organs that are normally in the lower belly are outside the body. Some of these organs may also not have formed correctly. The lower parts of the systems for reproduction, urine, and stool may not be completely formed. The pelvic bones, spinal column, and spinal cord may also be affected.
The cloaca is a structure that forms early in development. It normally divides to make the lower intestine and anus, the urinary bladder, and the reproductive tract. In cloacal exstrophy, this division does not happen in the usual way. It is the most severe of a group of birth defects called the exstrophy-epispadias complex. Cloacal exstrophy occurs in about 1 in 200,000 to 400,000 births.
Symptoms
The signs depend on how large the defect is. Signs of cloacal exstrophy include:
- A membrane-covered area on the belly wall that holds organs from the belly. This is called an omphalocele.
- A bladder that is divided into two halves.
- In boys, a penis that is split into two halves.
- In girls, a clitoris that is divided into two halves, and sometimes two vaginal openings.
- An anus that is missing or blocked, called an imperforate anus. The anus is the opening through which stool leaves the body.
Some children also have spina bifida. This is a defect of the spine in which part of the spinal cord and its covering are exposed through a gap in the backbone. Some also have a tethered cord, caused by tissue attachments that limit the movement of the spinal cord. This set of features is also known as OEIS complex. Kidney problems, including kidney failure, may be present at birth or may increase over time.
Causes and who gets it
Because the condition is so rare, the causes are not well understood. Both genetic and environmental factors are likely involved. Rare cases have been reported where it happened again in a later pregnancy. In some identical twins, both babies were born with it. In other twins, only one baby was affected.
In this group of birth defects, the problem happens 4 to 5 weeks after conception. A membrane called the cloacal membrane is not replaced by the tissue that will form the abdominal muscles. The reason this happens is not known. The rate is the same in other parts of the world as in the United States.
How doctors diagnose it
The conditions in this group can be diagnosed at birth. An ultrasound during pregnancy may show a bladder that does not fill, a low-set umbilical cord, and separated pubic bones.
Treatment
Cloacal exstrophy needs a coordinated care plan with input from several specialists. A series of surgeries over several years is needed. They repair the organs of the lower belly and help them work more normally. A main repair may be done shortly after birth, and it places the organs back into the belly.
Later surgeries may continue the repair. The main goals are bladder, bowel, sexual, and reproductive function. How many surgeries a person needs depends on how large the original defect was and on any other birth defects. A team approach is linked to the best possible outcomes. A major goal is to limit urinary incontinence (lack of bladder control) and fecal incontinence. Not all patients will reach this goal.
When to see a doctor
As patients grow and reach puberty, additional issues may arise. A woman born with it who wants to get pregnant may benefit from an obstetrician/gynecologist with experience in these issues. A man born with it may find help from a urologist with experience in cloacal exstrophy.
Call 911 or go to the emergency room if a child has trouble or abnormal breathing, a seizure, unconsciousness, or unstoppable bleeding.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Long-term care planning involves many different professionals and the family.
Common questions
Is cloacal exstrophy rare?
Yes, cloacal exstrophy occurs in about 1 in 200,000 to 400,000 births.
Do people with cloacal exstrophy live a normal number of years?
Yes, with treatment and management, people with cloacal exstrophy should live a normal number of years, says the Minnesota Department of Health. There may be lifelong problems from the original birth defects, but the quality of life tends to be good.
Does cloacal exstrophy need surgery?
Yes, a series of surgeries over several years is needed to repair the organs of the lower belly. The main repair may be done shortly after birth.
What causes cloacal exstrophy?
The exact cause is not well understood. Both genetic and environmental factors are likely involved.
Sources
- Minnesota Department of Health - Cloacal Exstrophy
- National Organization for Rare Disorders - Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
