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Learn About Exstrophy-Epispadias Complex

What is the definition of Exstrophy-Epispadias Complex?
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. 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. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.
What are the alternative names for Exstrophy-Epispadias Complex?
  • Exstrophy-epispadias complex
  • Exstrophy of the bladder
  • BEEC
  • Bladder exstrophy-epispadias-cloacal extrophy complex
  • EEC
  • Bladder exstrophy
Who are the top Exstrophy-Epispadias Complex Local Doctors?
John P. Gearhart
Elite in Exstrophy-Epispadias Complex
Elite in Exstrophy-Epispadias Complex

Johns Hopkins University

1800 Orleans St, 
Baltimore, MD 
Languages Spoken:
English

Dr. John P. Gearhart is a professor of pediatrics and urology at the Johns Hopkins School of Medicine. His clinical and surgical interests focus on the evaluation and treatment of children born with major congenital birth defects, bladder exstrophy, disorders of sexual development and childhood urinary cancers. Dr. Gearhart received his M.D. from the University of Louisville School of Medicine in 1975. After an internship in surgery and residencies in surgery and urology at the Medical College of Georgia, he completed a fellowship in pediatric urology at Alder Hey Children's Hospital of the University of Liverpool School of Medicine in 1981. Following two years as a urologist at St. Mary's Hospital in Huntington, West Virginia, he completed a second fellowship in pediatric urology at Johns Hopkins in 1985 and joined the Johns Hopkins faculty thereafter as an associate professor of pediatric urology. Over the course of his distinguished career, Dr. Gearhart has been lauded as a pioneer in pediatric urology and reconstructive genitourinary surgery. He has published extensively and has received numerous awards and guest lectureships. He is a member of several national and international professional organizations and is a founding member of the Society of Reconstructive Genitourinary Surgeons. Dr. Gearhart is rated as an Elite provider by MediFind in the treatment of Exstrophy-Epispadias Complex. His top areas of expertise are Cloacal Exstrophy, Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Osteotomy, and Bladder Reconstruction.

Heather Di Carlo
Elite in Exstrophy-Epispadias Complex
Elite in Exstrophy-Epispadias Complex

Rubenstein Child Health Building

200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
Baltimore, MD 
Languages Spoken:
English

Dr. Heather Noelle Di Carlo is an associate professor of urology at the Johns Hopkins University School of Medicine. She treats all pediatric urological disorders in young males and females while specializing in renal sparing surgery and complex reconstruction of the genitourinary tract in patients with the exstrophy-epispadias complex, disorders of sexual development (DSD) and other congenital anomalies. She serves as the Director of Pediatric Urology Research and is the interim Division Director of Pediatric Urology. A native of New York, Dr. Di Carlo graduated from Emory University with a B.S. in neuroscience and music, and the State University of New York at Stony Brook School of Medicine. Following general surgery and urology residency training at Stony Brook Medical Center, she completed a pediatric urology fellowship at the James Buchanan Brady Urological Institute. Dr. Di Carlo has special clinical and basic science interests in the exstrophy-epispadias complex, spina bifida and renal transplantation. Dr. Di Carlo is rated as an Elite provider by MediFind in the treatment of Exstrophy-Epispadias Complex. Her top areas of expertise are Exstrophy of the Bladder, Exstrophy-Epispadias Complex, Cloacal Exstrophy, Bladder Reconstruction, and Osteotomy.

 
 
 
 
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Elite in Exstrophy-Epispadias Complex
Elite in Exstrophy-Epispadias Complex

Johns Hopkins University

8600 Old Georgetown Rd, 
Bethesda, MD 
Experience:
10+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Mahir Maruf is an Urologist in Bethesda, Maryland. Dr. Maruf has been practicing medicine for over 10 years and is rated as an Elite provider by MediFind in the treatment of Exstrophy-Epispadias Complex. His top areas of expertise are Exstrophy of the Bladder, Cloacal Exstrophy, Exstrophy-Epispadias Complex, Bladder Reconstruction, and Osteotomy. Dr. Maruf is currently accepting new patients.

What are the latest Exstrophy-Epispadias Complex Clinical Trials?
PROSPECTIVE STUDY EVALUATING THE SAFETY AND EFFECTIVENESS OF ADJUSTABLE CONTINENCE THERAPY (ACT) BALLOONS FOR THE MANAGEMENT OF URINARY INCONTINENCE IN CHILDREN WITH BLADDER EXSTROPHY OR INCONTINENT EPISPADIAS

Summary: The purpose of this study is to evaluate the effectiveness and safety of a minimally invasive surgical procedure with ACT (Adjustable Continence Therapy) balloons implantation for the treatment of urinary incontinence in children with bladder exstrophy or isolated epispadias. The ACT therapy consists of two small adjustable silicone balloons connected with a tubing to a port, surgically placed aro...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center