Cloacal Exstrophy

Cloacal exstrophy is a rare congenital birth defect that occurs when the lower abdominal organs do not form properly during fetal development. Babies with this condition are born with organs outside the body, such as the bladder, small and large intestine, and sometimes vagina.

What Is Cloacal Exstrophy?

Cloacal exstrophy is a rare birth defect that happens when the organs in the lower part of the belly (abdomen) do not form the right way during fetal development. Babies with this condition are born with organs, such as the bladder or intestines, outside the body. Other organs, including the bladder, genitals and anus, may also be formed the wrong way or split in half.

This condition is also known as OEIS Syndrome. This birth defect affects 1 in 250,000 births and is slightly more common in males.

What Are the Signs and Symptoms of Cloacal Exstrophy?

Signs and symptoms of cloacal exstrophy usually include:

  • Omphalocele – Some of the baby’s abdominal organs stick out through an opening near the umbilical cord. The whole intestine, part of the intestine, liver and/or spleen may be exposed, covered by only a thin layer of tissue.
  • Structural abnormalities – This can involve many different organs.
    • An exposed bladder may be split in two, appearing on either side of the large intestine.
    • In boys, the penis may be flat and short and split.
    • In girls, the clitoris may be split and there may be two vaginal openings.
    • The rectum and colon may be exposed (part of the rectum may be found between the bladder halves)
  • Imperforate anus – The opening to the anus is missing or blocked and the colon connects to the bladder. This condition is often found with cloacal exstrophy.
  • Other birth defects – Many children born with cloacal exstrophy have other birth defects. Spinal defects are common, like spina bifida. Kidney abnormalities may also be present.

Cloacal exstrophy is a complex syndrome that will need long-term treatment and care.

What Causes Cloacal Exstrophy?

The cause of cloacal exstrophy is not known. It has not been linked to any prenatal factors. This makes it highly unlikely that the condition can be prevented.

How Is Cloacal Exstrophy Diagnosed?

The condition is found during pregnancy with a routine ultrasound. Further evaluation should include additional imaging with fetal MRI, karyotyping, multidisciplinary consultation with subspecialties such as pediatric surgery, neonatology, genetics, endocrinology, plastics and urology.

If the condition is suspected, your physician may refer you to a fetal center for a comprehensive evaluation and or order additional testing, including:

  • Anatomy ultrasound – a high-resolution ultrasound to confirm the diagnosis and assess for other anomalies
  • Fetal MRI – a non-invasive imaging technique to help provide additional details of the baby’s organs that may not have been visualized on ultrasound
  • Fetal echocardiogram – a specialized ultrasound to evaluate the baby’s heart structure and function
  • Amniocentesis: A medical procedure in which a small sample of the amniotic fluid that surrounds the baby in the womb is extracted and studied in the lab and tested for genetic abnormalities. The results could affect the treatment and overall outcomes. Also, amniocentesis can be used to confirm results of screening using cell-free fetal DNA.
  • Cell-Free Fetal DNA: Your doctor can take a sample of your blood to look for copies of fetal (baby) DNA.  This is only a screening test. A positive result means that there could be problems with the DNA.  This should be confirmed with another test to be sure of the result. 

What Are the Treatment Options for Cloacal Exstrophy?

Cloacal exstrophy is treated with reconstructive surgery. This is done in stages. Children with this birth defect have a series of operations to fix the problems and improve quality of life. The procedures start soon after birth and continue for several years.

The procedures are as follows in the order they happen:

  • Bladder/abdominal repair – This is the first surgery. It happens shortly after birth. Surgeons connect the two halves of the bladder and place them back into the abdomen. Other surgeries may occur after the baby has had time to grow. This is usually between three months to two years of age.
  • Colostomy – During the first surgery, a surgery to place a colostomy is done so stool can leave your child’s body safely. The surgeon connects one end of the large intestine to a surgically created opening in the abdomen. This let’s stool pass into a sealed bag outside the body.
  • Osteotomy – The next phase of abdominal surgeries often includes an osteotomy. This involves cutting and moving the hip bones to make the pelvis strong enough to support the bladder.
  • “Pull-through” – Some children may have a pull-through. This surgery connects the colon to the skin in the usual position of the anus. It is done on children who can form stool and have a good chance of being clean with bowel management and care. Doctors will consider length of the colon, the position and strength of sphincter muscles and if there are any spinal defects.
  • Urinary surgery and genital reconstruction – Other procedures may be done to improve urinary continence or correct genital abnormalities.

The timing of these surgeries depends on how severe your child’s condition is and their overall health.

What Are the Long-term Effects of Cloacal Exstrophy?

Children born with cloacal exstrophy will stay under the care of urologists, colorectal doctors and other specialists to manage long-term effects and problems. These issues may include problems with bladder, bowel control or other co-existing medical conditions.

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