You are here: Home / Rare Disease Information / Rare Disease Database

Search Rare Diseases

Enter a disease name or synonym to search NORD's database of reports.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Synonyms of Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

  • Ectopia Vesicae

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Bladder exstrophy-epispadias-cloacal exstrophy complex is a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. In classic bladder exstrophy, most anomalies are related to defects of the abdominal wall, bladder, genitalia, pelvic bones, rectum and anus.

Bladder exstrophy is a rare developmental abnormality that is present at birth (congenital) in which the bladder and related structures are turned inside out. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. The extent of the exstrophy depends on how large the opening is. The mildest form is when there is a defect or opening in the tube that carries urine out of the body from the bladder (urethra) and is termed epispadias.

The most severe form is when there is a defect in the urethra, bladder and bowel (cloacal exstrophy). Classic bladder exstrophy is when there is a defect in the urethra and bladder and is intermediate in severity. The underlying cause of this complex is not known. The physical characteristics are the result of a developmental abnormality during embryonic growth in which the cloacal membrane is not replaced by tissue that will form the abdominal muscles.

Symptoms

The bladder-exstrophy-epispadias-cloacal exstrophy complex can take many forms depending on the extent of the developmental abnormality that causes it. The mildest form is when there is an opening in the urethra (epispadias). The most severe form is when there is an opening in the urethra, bladder and bowel (cloacal exstrophy).

The most common form is classic bladder exstrophy in which the bladder and related structures are turned inside out through an opening in the abdominal wall. Classic bladder exstrophy is intermediate in severity and the bladder is open from the top of the bladder through the urethra and to the tip of the penis.

Boys with epispadias have a urethra that is extremely short and split and the opening is on the upper surface of the penis. Girls with epispadias have a urethral opening located between a split clitoris and labia minor.

Cloacal exstrophy is a severe birth defect in which there is usually a membrane-covered area on the abdominal wall that contains the abdominal contents (omphalocele). The bladder is divided in two halves and males have a penis split in two halves. Females have a clitoris divided in two halves and may have two vaginal openings. The opening of the rectum to the outside of the body is usually missing or abnormally small.

Other abnormalities are sometimes associated with the complex. These include a separation of the pubic bones, absence of the lower portion of the bladder causing lack of bladder control (incontinence) and abnormal position of the tubes that carry urine from the kidneys to the bladder (ureters) causing back up of urine in the kidneys (reflux),

Causes

In normal development, the cloacal membrane temporarily separates the urogenital and anal structures and them breaks when tissue that will form abdominal muscles begins to grow in its place. The bladder exstrophy-epispadias-cloacal exstrophy complex is caused by a developmental abnormality that occurs 4-5 weeks after conception in which the cloacal membrane is not replaced by tissue that will form the abdominal muscles. The underlying cause of this error in development is not known.

Affected Populations

The birth prevalence of classic bladder exstrophy has been estimated to be between 1 in 10,000 and 1 in 50,000 livebirths. Males are affected 2-3 times more often than females. Isolated epispadias occurs in approximately 1 in 112,000 live male births and 1 in 400,000 live female births. Cloacal exstrophy occurs in approximately 1 in 400,000 live births.

Related Disorders

N/A

Standard Therapies

Diagnosis
Prenatal ultrasound examination of a fetus with the complex may reveal absence of bladder filling, low-set umbilical cord, separation of pubic bones, small genitals and an abdominal mass that increases in size as the pregnancy progresses.

Treatment
The treatment of bladder exstrophy consists of a series of corrective surgeries performed over several years. The first surgery is closure of the bladder to allow it to hold urine, placement of the bladder inside the pelvis and closure of the abdominal wall. In some cases, children with bladder exstrophy may also require a series of surgical procedures to reconstruct the external genitalia. These surgeries are usually performed before the age of 2 years. Bladder neck reconstruction is performed at approximately 5 years of age to allow control of urine and ureters are repositioned to prevent urine from backing up into the kidneys.

The outlook for maintaining normal kidney function after surgical correction and reconstruction is good. However, some individuals with this disorder may experience long-term urinary problems such as kidney stones, kidney infections, and varying degrees of urinary incontinence. Other treatment is symptomatic and supportive.

Investigational Therapies

The use of three-dimensional CT to evaluate the bony pelvis and pelvic floor is being explored. This may provide new insight for long-term issues such as urinary and fecal incontinence and pelvic organ prolapse and help in developing better techniques for reconstruction of the pelvic bones and pelvic floor (osteotomy) in these patients.

Researchers at the Johns Hopkins Institute of Genetic Medicine and the Brady Urology Institute are seeking to identify genes and environmental factors that cause exstrophy and epispadias. For more information on this study, please contact:

McKusick-Nathans Institute of Genetic Medicine
The Johns Hopkins Hospital, CMSC 1004
600 N. Wolfe Street
Baltimore, MD 21287-4822 USA
Phone: (410) 502-6067

Simeon A. Boyd, M.D.
Assistant Professor of Genetic Medicine and Pediatrics
sboyd@mail.jhmi.edu

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Resources

Organizations:

References

TEXTBOOKS
Gearhart JP and Tadros YE. The Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:686-687.

Jones KL, Ed. Smith's Recognizable Patterns of Human Malformation, 4th Edition. W.B. Saunders Company. 1988:566-67.

Buyse ML, Ed. Birth Defects Encyclopedia. Blackwell Scientific Publications. 1990:226-27.

Gearhart JP. Bladder and cloacal exstrophy. In: Gonzales ET, Bauer, SB, eds. Pediatric Urology Practice. Lippincott Williams and Wilkins. Philadelphia;1999:339-364.

Gearhart JP, Jeffs RD. Chapter 63. In: Campbell MF, Retik AB. Campbell's Urology, 7th edition. Vol. 2. WB Saunders Company. Philadelphia;1997:1939-1990.

ARTICLES
Gearhart et al. State-of-the-art reconstructive surgery of bladder exstrophy at the Johns Hopkins Hospital. Am J Dis Child. 1989;143:1475-78.

Jaffe et al. Sonographic findings in the prenatal diagnosis of bladder exstrophy. Am J Obstet Gynecol. 1990;162(3):675-78.

Gearhart JP, et al. The failed exstrophy closure: strategy for management. Br J Urol. 1993;71(2):217-20.

Csontai A, et al. Results of surgical treatment in children with bladder exstrophy. Br J Urol. 1992;70(6):683-85.

Connor JP, et al. Long-term follow-up of 207 patients with bladder exstrophy: an evolution in treatment. J Urol. 1989;142(3):793-95, discussion:795-96.

Husmann et al. Closure of the exstrophic bladder: an evaluation of the factors leading to its success and its importance on urinary incontinence. J Urol. 1989:142(2):522-24, discussion:542-43.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2007/08/17 00:00:00 GMT+0

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

 
Copyright ©2014 NORD - National Organization for Rare Disorders, Inc. All rights reserved.
The following trademarks/registered service marks are owned by NORD: NORD, National Organization for Rare Disorders, the NORD logo, RareConnect. .