Bladder Exstrophy-Epispadias-Cloacal Exstrophy (or Exstrophy-Epispadias Complex) involves a spectrum of congenital defects of the urinary tract, genital tract, and musculoskeletal system that are a result of embryologic defects.
What are the other Names for this Condition? (Also known as/Synonyms)
- Bladder Exstrophy-Epispadias Complex and Cloacal Exstrophy
- Ectopia Vesicae
- Exstrophy-Epispadias Complex (EEC)
What is Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex? (Definition/Background Information)
- Bladder Exstrophy-Epispadias-Cloacal Exstrophy (or Exstrophy-Epispadias Complex) involves a spectrum of congenital defects of the urinary tract, genital tract, and musculoskeletal system that are a result of embryologic defects
- The disorder tends to generally affect newborn Caucasian boy babies more. Risk factors, such as maternal smoking and a positive family history, increase the risk for Exstrophy-Epispadias Complex
- These risk factors may cause the development of one of the 3 forms of the complex, which include:
- Classic Bladder Exstrophy
- Cloacal Exstrophy
- The cause of Bladder Exstrophy-Epispadias-Cloacal Exstrophy is not known. Research scientists are actively researching the cause of this embryologic defect
- A healthcare provider can diagnose one of the 3 types through a physical examination or prenatal ultrasounds. The healthcare professional will look for signs and symptoms specific to each form that may include abnormal pubic bone separation, lack of bladder control, and urine reflux
- Once Bladder Exstrophy-Epispadias-Cloacal Exstrophy is diagnosed, corrective and reconstructive surgeries can be undertaken to treat bladder and kidney defects
- Complications, such as long-term urinary abnormalities and the bladder re-opening after surgery can lead to a poorer prognosis for children with Bladder Exstrophy-Epispadias-Cloacal Exstrophy. Generally, if no complications arise and the treatment is successful, the prognosis can be good
- Preventative measures for the condition are not well understood and ongoing research may help understand the condition better. However, stopping/avoiding the use of tobacco by the expectant mother can decrease the chance of the condition in one’s child
Who gets Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex? (Age and Sex Distribution)
- Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex affect newborns, since it is a congenital abnormality that is present at birth
- Males and females of all ethnic and racial backgrounds can be affected
- Research has indicated that Caucasian males have a higher chance of Exstrophy-Epispadias Complex
What are the Risk Factors for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex? (Predisposing Factors)
The risk factors for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex may include:
- Tobacco exposure due to maternal tobacco use can increase the risk of the child developing the disease
- Genetic predisposition; having a family history of the condition
- Being a male
- Caucasians have a higher risk than individuals of other racial groups
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex? (Etiology)
- Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex is caused by an embryologic defect of unknown origin
- The defect prevents the cloacal membrane (that covers an area where the urinary and reproductive organs develop) from being replaced by abdominal tissues, which leads to the characteristic signs and symptoms
What are the Signs and Symptoms of Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex?
The signs and symptoms of Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex depend on the extent of the abnormality.
- The mildest form is known as Epispadias:
- Boys with Epispadias have a short urethra that is split and has an opening on the upper surface of the penis
- Girls with Epispadias have their urethral opening between the labia minora and clitoris
- Classic Bladder Exstrophy is the intermediate form that involves the bladder and related structures being turned inside out
- Cloacal Exstrophy is the most severe form and involves the bladder, penis, and clitoris being divided into two halves. The rectum is usually missing and the abdominal wall may contain an omphalocele (abdominal contents) that is surrounded by a membrane
Additional signs and symptoms of Exstrophy-Epispadias Complex include:
- Abnormal pubic bone separation, usually identified on a pelvic X-ray
- Lack of bladder control due to an absence of the lower bladder
- Urine reflux (backup) in the kidneys
How is Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Diagnosed?
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex may be diagnosed through:
- Physical examination of the child and analysis of family medical history
- Prenatal ultrasounds and MRI scan of a fetus that may present abnormal genitalia, increased pelvic diameter, lower abdominal wall mass, and a low set umbilical cord
- Evidence of limb abnormalities and myelomeningocele (birth defect where the backbone and spinal canal do not close) can indicate Cloacal Exstrophy
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex?
Complications for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex may include:
- Long-term urinary abnormalities such as kidney stones, kidney infections, and urinary incontinence
- Issues with self-image
- Re-opening of the bladder following surgical treatment
How is Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Treated?
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex may be treated through the following measures:
- Corrective surgeries over the course of several years with the goal of closing and placing the bladder in the pelvis, maintaining kidney function, achieving urinary continence, and achieving a functional and cosmetically acceptable external genitalia
- Closure of the bladder to allow urine storage, placement of the bladder inside the pelvis, and closure of the abdominal wall are part of the first surgery in treatment of Exstrophy-Epispadias Complex
- Some children may need to undergo reconstruction of external genitalia that is performed before the age of 2 years
- Bladder neck reconstruction, which may be performed around 5 years of age, in order to allow better urine control
How can Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex be Prevented?
- Prevention of Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex is hard to define due to the cause of the disorder being unknown
- Pregnant women should avoid smoking to lower the risk of the disorder for their child
What is the Prognosis of Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex? (Outcomes/Resolutions)
- The prognosis for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex is typically good; surgical correction and reconstruction can help maintain normal kidney function
- Nevertheless, children may have kidney stones, kidney infections, and urinary incontinence after surgical reconstruction
Additional and Relevant Useful Information for Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex:
Please visit our Kidney & Bladder Health Center for more physician-approved health information:
What are some Useful Resources for Additional Information?
American Academy of Pediatrics (AAP)
141 Northwest Point Blvd. Elk Grove Village, IL 60007
Phone: (847) 434-4000
Toll-Free: (800) 433-9016
Fax: (847) 434-8000
International Pediatric Nephrology Association (IPNA)
10833 Le Conte Avenue, A2–383 MDCC Los Angeles, CA 90095–1752
Phone: (310) 206–9295
Fax: (310) 825–3476
References and Information Sources used for the Article:
http://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/#standard-therapies (accessed on 6/2/16)
http://neoreviews.aappublications.org/content/11/12/e705 (accessed on 6/2/16)
Helpful Peer-Reviewed Medical Articles:
Akhavan, A., Elderwy, A., & Grady, R. (2015). Epispadias and bladder exstrophy. Pediatric Urology: Surgical Complications and Management, 107.
Baradaran, N., & Gearhart, J. P. (2010). Bladder exstrophy-epispadias-cloacal exstrophy complex: A contemporary overview. NeoReviews, 11(12), e705-e713.
Ben-Chaim, J., Binyamini, Y., Segev, E., Sofer, M., & Bar-Yosef, Y. (2016). Can classic bladder exstrophy be safely and successfully reconstructed at a low volume center?. The Journal of urology, 195(1), 150-154.
Deans, R., Liao, L. M., Wood, D., Woodhouse, C., & Creighton, S. M. (2015). Sexual function and health‐related quality of life in women with classic bladder exstrophy. BJU international, 115(4), 633-638.
Gordetsky, J., & Joseph, D. B. (2015). Cloacal Exstrophy: A History of Gender Reassignment. Urology, 86(6), 1087-1089.
Hesh, C. A., Young, E., Intihar, P., & Gearhart, J. P. (2015). The cost of failure: The economic impact of failed primary closure in classic bladder exstrophy. Journal of pediatric surgery.
KV, S. K., Mammen, A., & Varma, K. K. (2015). Pathogenesis of bladder exstrophy: A new hypothesis. Journal of pediatric urology, 11(6), 314-318.
Rubenwolf, P., Thomas, C., Thüroff, J. W., & Stein, R. (2016). Sexual Function and Fertility of Women with Classic Bladder Exstrophy and Continent Urinary Diversion. The Journal of Urology.
Studer, U. E. (2015). Landmarks in History of Continent Urinary Diversion. InKeys to Successful Orthotopic Bladder Substitution (pp. 53-61). Springer International Publishing.
Vogan, K. (2015). Bladder exstrophy risk variants. Nature genetics, 47(5), 429-429.