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Exstrophy of the bladder


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Other Names:
Bladder exstrophy
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases
This disease is grouped under:
Exstrophy-epispadias complex

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93930

Definition
A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

Epidemiology
The prevalence at birth for the EEC is reported at 1/10,000. As epispadias (E), classic bladder exstrophy (CEB) and cloacal exstrophy (EC) are now recognized clinical variants of the same spectrum, accurate epidemiological data on E/EC/CEB are no longer available. However, CEB appears to be more frequent in the white population. Most studies report a male-to-female ratio of around 2.4:1, but ratios as high as 6:1 have also been reported.

Clinical description
CEB is evident from birth, with the reddish bladder mucosa being visible in the lower abdomen and mucosal polyps sometimes present on the surface. Urine drips from the ureteric orifices on the bladder surface. Other findings include pubic diastasis of various degrees with divergent rectus muscles and inguinal hernias. In males, the penis is short and broad with dorsal chordee. The urethral plate covers the whole dorsum of the penis from the open bladder to the glandular grove. Both corpora cavernosa are located beneath the urethral plate and the colliculus seminalis and the ductus ejaculatorii are visible as tiny openings in the area where the prostate is presumably dorsally located. Females present with a bifid clitoris next to the open urethral plate. The vaginal opening appears narrow and the perineum is shortened due to the anterior displacement of the vagina and anus. Women with CEB have a predisposition for vaginal or uterine prolapse. Spinal anomalies occur in about 7% of cases but gastrointestinal anomalies are rare in CEB.

Etiology
CEB results from early abnormal development of the intra-abdominal wall and bladder during rupture of the cloacal membrane. Though the underlying cause remains still unknown, a developmental field defect with both genetic and environmental factors is likely to play a role.

Diagnostic methods
Diagnosis is clinical. However, during follow-up, laboratory and imagining studies (such as ultrasound of the urogenital system, pelvic MRI or X-ray, voiding cystography and urodynamics) are useful to determine renal function and assess bladder capacity and detrusor function.

Management and treatment
Management is primarily surgical, with the main aims of obtaining secure abdominal wall closure, achieving urinary continence with preservation of renal function, and, finally, adequate cosmetic and functional genital reconstruction. Currently, several methods for bladder reconstruction with creation of an outlet resistance and epispadias repair (either as a staged or a one-stage approach) during the newborn period are favored worldwide. Removal of the bladder template with complete urinary diversion to a rectal reservoir can be an alternative.

Prognosis
After reconstructive surgery of the bladder, continence rates of about 80% are expected during childhood. Though spontaneous voiding is the main issue, additional surgery might be needed to optimize bladder storage and emptying function. In cases of definite reconstruction failure, urinary diversion should be undertaken. In puberty, genital and reproductive function constitute increasingly important issues for both sexes. Psychosocial and psychosexual outcome reflect the importance of long-term care (from birth into adulthood) from a multidisciplinary team of experts for parents and children with EEC to facilitate an adequate quality of life.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2010

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 19 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the anus 0004378
Abnormality of the clitoris
Abnormality of the clit
0000056
Bladder exstrophy 0002836
Epispadias 0000039
Hypoplasia of penis
Underdeveloped penis
0008736
Umbilical hernia 0001537
Vesicoureteral reflux 0000076
30%-79% of people have these symptoms
Inguinal hernia 0000023
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
0000010
5%-29% of people have these symptoms
Bowel incontinence
Loss of bowel control
0002607
Intestinal malrotation 0002566
Omphalocele 0001539
Percent of people who have these symptoms is not available through HPO
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Anteriorly placed anus 0001545
Autosomal dominant inheritance 0000006
Bifid clitoris 0030911
Horseshoe kidney
Horseshoe kidneys
0000085
Hydroureter 0000072
Unilateral renal agenesis
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
0000122
Showing of 19 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Exstrophy of the bladder. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Association for the Bladder Exstrophy Community
    2901 W Kinnickinnic River Pkwy, Suite #311
    Milwaukee, WI 53215
    Telephone: 414-385-7100 (US) and 519-679-8774 (Canada)
    Fax: 414-385-8721
    E-mail: admin@bladderexstrophy.com
    Website: http://www.bladderexstrophy.com
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Johns Hopkins Children's Center provides general information on bladder exstrophy.
  • The Lucile Packard Children's Hospital at Stanford has developed a fact sheet that discusses this topic.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Exstrophy of the bladder. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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