Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Ectopia Vesicae

Disorder Subdivisions

  • None

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.

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

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.

Resources

National Association for Continence

P.O. Box 1019

Charleston, SC 29402-1019

United States

Tel: (843)377-0900

Fax: (342)377-0905

Tel: (800)252-3337

Email: memberservices@nafc.org

Internet: http://www.nafc.org



Urology Care Foundation

1000 Corporate Blvd

Linthicum, MD 21090

USA

Tel: (410)689-3700

Fax: (410)689-3896

Tel: (800)828-7866

Email: Info@UrologyCareFoundation.org

Internet: http://www.urologyhealth.org/



Association For Bladder Exstrophy Community

6737 West Washington Street

Suite 6737

West Allis, WI 53214

USA

Tel: (414)918-9002

Tel: (866)300-2222

Email: admin@bladderexstrophy.com

Internet: http://www.bladderexstrophy.com



NIH/National Kidney and Urologic Diseases Information Clearinghouse

3 Information Way

Bethesda, MD 20892-3580

Fax: (703)738-4929

Tel: (800)891-5390

TDD: (866)569-1162

Email: nkudic@info.niddk.nih.gov

Internet: http://www.kidney.niddk.nih.gov/



Pull-Thru Network

1705 Wintergreen Parkway

Normal, IL 61761

USA

Tel: (309)262-2930

Email: PullthruNetwork@gmail.com

Internet: http://www.PullthruNetwork.org



Ureterosigmoidostomy Association

P.O. Box 392

Brunswick, ME 04011

USA

Tel: (207)725-2753

Email: kascar@yahoo.com

Internet: http://www.ureterosigmoidostomy.com/



Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane

Orlando, FL 32814

USA

Tel: (407)895-0802

Email: staff@birthdefects.org

Internet: http://www.birthdefects.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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