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.
What is 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. Additionally, the lower anterior abdominal wall, several abdominal structures – including the bladder, genitals and anus – are malformed or split in half.
Also known as OEIS Syndrome, the birth defect affects 1 in 250,000 births and is slightly more common in males.
What are the Signs and Symptoms of Cloacal Exstrophy?
Cloacal exstrophy is typically characterized by several features, including:
- Omphalocele – Some of the baby’s abdominal organs protrude through an opening near the umbilical cord. The intestine, or a portion of the intestine, and possibly the liver and spleen are exposed and covered by only a thin layer of tissue.
- Structural abnormalities – The exposed bladder is separated into two halves, which appear on either side of the large intestine. In boys, the penis is usually flat and short, and sometimes split. In girls, the clitoris is separated and there may be two vaginal openings. The rectum and colon may also be exposed, with a segment of the colon located between the bladder halves.
- Imperforate anus – The opening to the anus is missing or blocked, while the colon connects to the bladder.
- Other birth defects – Many children born with cloacal exstrophy have other birth defects, too. Spinal defects including, distorted spine, sacral myelomeningocele, are common. Bilateral clubfeet, and kidney abnormalities may also be present.
Cloacal exstrophy is a complex syndrome that will require long-term treatment and care.
What Causes Cloacal Exstrophy?The cause of cloacal exstrophy is unknown. Researchers have not linked the condition to any prenatal factors, so it is highly unlikely that the condition is preventable.
How is Cloacal Exstrophy Diagnosed?
The condition is detected 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, which is done in stages and can be challenging. Children with this birth defect undergo a series of operations aimed at repairing abnormalities and optimizing quality of life. The procedures begin soon after birth and continue for several years.
- Bladder/abdominal repair: Shortly after birth, surgeons connect the two halves of the bladder and place them back into the abdomen. Additional surgeries may occur after the baby has had time to grow, usually between three months and two years of age.
- Colostomy: After the initial surgery, a colostomy is performed to provide a safe way for your child to eliminate stool. It involves connecting one end of the large intestine to a surgically created opening in the abdomen, allowing stool to pass into a sealed bag outside the body.
- Osteotomy: The second phase of abdominal surgery often includes osteotomy, which involves cutting and adjusting the hip bones to ensure that the pelvis is strong enough to support the bladder over time.
- “Pull-through”: Some children undergo a “pull-through,” which connects the colon to the rectum. The procedure is performed on children who can form stool and have the potential for bowel control. Doctors will also consider length of the colon, the position and strength of sphincter muscles, and spinal defects.
- Urinary surgery and genital reconstruction: Subsequent procedures may be performed to establish or improve urinary continence and/or correct genital abnormalities.
The timing of these surgeries will depend on the nature and complexity of your child’s condition and overall health.