Rare Pulmonology News

Disease Profile

Exstrophy-epispadias complex

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q64.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

BEEC; Bladder exstrophy-epispadias-cloacal extrophy complex; EEC

Summary

Exstrophy-epispadias complex (EEC) refers to a spectrum of birth defects that includes epispadias, classical bladder exstrophy, and exstrophy of the cloaca and several variants.[1][2] EEC is characterized by a visible defect of the lower abdominal wall and other problems. In normal development, the cloacal membrane temporarily separates the cloaca (final part of the intestine) into urogenital and anal regions, and it ruptures after fusing with a structure known as the urogenital septum, which is made up of the tissue that will form the abdominal muscles (mesoderm). If the cloacal membrane does not fuse correctly with the urogenital septum, it does not form the mesoderm and, as a result, the abdominal muscles do not form. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy, or cloacal exstrophy. Depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. There is no known cause for EEC.[1][3] Treatment may involve several surgeries to repair the abdominal wall and any associated malformations.[2][4]

The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.

Organizations

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

    Learn more

    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

      In-Depth Information

      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Cloacal exstrophy. Urology Care Foundation. 2016; https://www.urologyhealth.org/urologic-conditions/cloacal-exstrophy.
        2. Cloacal exstrophy. Orphanet. March, 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93929.
        3. Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex. NORD. 2007; https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/.
        4. Yerkes EB. Exstrophy and Epispadias. Medscape Reference. https://emedicine.medscape.com/article/1014971-overview.