Cloacal Exstrophy

Common Name(s)

Cloacal Exstrophy

Cloacal exstrophy is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes that causes severe birth defects where much of the abdominal organs, like the bladder and intestines, are exposed. It can also cause the male and female genitalia, the penis or clitoris respectively, to split, and the anus can be sealed. Cloacal exstrophy occurs 1 in 400,000 live births and can usually be diagnosed before birth during an ultrasound. Although there is currently no cure for cloacal exstrophy, there are various resources available to patients to help manage the condition and treat birth defects, including surgical repair, which may also require several additional reconstructive surgeries over many years. Doctors seek help from various therapists and community services to provide support and care for families affected by cloacal exstrophy.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cloacal Exstrophy" for support, advocacy or research.

Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

Last Updated: 8 Nov 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cloacal Exstrophy" for support, advocacy or research.

Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

http://www.PullthruNetwork.org

Last Updated: 8 Nov 2012

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cloacal Exstrophy" returned 15 free, full-text research articles on human participants. First 3 results:

The current profile of persistent cloaca and cloacal exstrophy in Japan: the results of a nationwide survey in 2014 and a review of the literature.
 

Author(s): Masayuki Kubota

Journal: Pediatr. Surg. Int.. 2017 Apr;33(4):505-512.

 

The current profile of persistent cloaca (PC) and cloacal exstrophy (CE) in Japan was first examined in 2014.

Last Updated: 6 Jan 2017

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Growth morbidity in patients with cloacal exstrophy: a 42-year experience.
 

Author(s): Brenna S Fullerton, Eric A Sparks, Amber M Hall, Yee-Ming Chan, Christopher Duggan, Dennis P Lund, Biren P Modi, Tom Jaksic, W Hardy Hendren

Journal: J. Pediatr. Surg.. 2016 Jun;51(6):1017-21.

 

Cloacal exstrophy is associated with multiple comorbidities that affect growth. This report describes long-term growth outcomes in a large cohort of patients with cloacal exstrophy and explores associated comorbidities.

Last Updated: 25 Jun 2016

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Duplicated pelvic floor musculature and diastematomyelia in a cloacal exstrophy patient.
 

Author(s): Brian M Inouye, Ali Tourchi, Eric Z Massanyi, John P Gearhart, Aylin Tekes

Journal:

 

Cloacal exstrophy is the most severe and rare form of the exstrophy-epispadias complex, presenting with exposed bladder halves extruding through an abdominal wall defect and variable genitourinary, gastrointestinal, musculoskeletal, and neurological defects. The authors report magnetic ...

Last Updated: 26 Nov 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cloacal Exstrophy" returned 2 free, full-text review articles on human participants. First 3 results:

Cloacal exstrophy: a case report and literature review.
 

Author(s): Vitalij Varygin, Šarūnas Bernotas, Pranas Gurskas, Valerijus Karmanovas, Sigitas Strupas, Olga Zimanaitė, Gilvydas Verkauskas

Journal: Medicina (Kaunas). 2011 ;47(12):682-5.

 

Cloacal exstrophy is an extremely rare congenital malformation resulting in an exstrophy of the urinary, intestinal, and genital organs and associated with anomalies of other organ systems. We present a complicated case of cloacal exstrophy and the recent progress in the management ...

Last Updated: 28 Feb 2012

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Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review.
 

Author(s): Kim Keppler-Noreuil, Sue Gorton, Florence Foo, Jerome Yankowitz, Catherine Keegan

Journal: Am. J. Med. Genet. A. 2007 Sep;143A(18):2122-8.

 

Omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex or cloacal exstrophy (EC), describes a rare grouping of more commonly occurring component malformations [Carey et al., 1978]. The etiology is unknown, but likely heterogeneous. While postnatal identification ...

Last Updated: 23 Aug 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Prospective Cohort of Transitional Urology Patients
 

Status: Recruiting

Condition Summary: Spina Bifida; Myelomeningocele; Meningocele; Bladder Exstrophy; Genitourinary Congenital Anomalies; Cloacal Exstrophy

 

Last Updated: 21 Feb 2017

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