The exstrophy epispadias complex is a spectrum of disorders ranging in severity from epispadias through bladder exstrophy to cloacal exstrophy. All three and their variants are rare congenital abnormalities, which affects boys more frequently than girls. The diagnosis is usually made at birth, or increasingly prenatally, with the exception of female epispadias that may present with urinary incontinence.

Epispadias
Children with epispadias may have normal urinary control, but the majority of both boys and girls with epispadias are incontinent. In epispadias both the bladder and bladder neck (control mechanism) can be responsible. Consequently once the penis/female urethra have been corrected many children still require further surgery on the control mechanism to achieve normal control of urine.

Bladder Exstrophy
The characteristic features of bladder exstrophy are: a bladder that opens directly onto the abdominal wall; abnormal genitalia; and where the bony part of the pelvis has remained open. The surgical repair is normally perestablished in three stages. Firstly the bladder is closed; this is undertaken soon after birth, to prevent excessive damage. To aid closure, operations on the bony pelvis may be performed. Secondly, at six to twelve months of age the epispadias repair is carried out. In boys the penis is epispadic and is corrected surgically during the second stage of the repair. In girls the clitoris is divided into two halves with the urethra running between, in addition the vagina is slightly more forward than it usually is, this is often able to be corrected at the initial repair. Finally, between three to four years of age bladder neck reconstruction is carried out, if necessary. Increasingly, the second and third stages are being combined in the first year of life. Some surgeons are now challenging this staged approach.

Cloacal Exstrophy
Cloacal exstrophy is the most severe end of the epispadias-exstrophy complex , consequently the chance of normal voiding is extremely small. In addition to problems with the urine, the bowel and spine are often involved. Reconstructive surgery is usually carried out in the first few weeks of life, but these children often have long term problems gaining any urinary or faecal control. If the penis is not able to be adequately reconstructed in a boy, it may be necessary to perform bilateral gonadectomies and a feminising genitoplasty and the child be brought up as an XY female, although the child will be infertile.

Inheritance patterns
None known

Prenatal diagnosis
At present difficult but with increasing experience, prenatal diagnosis is possible.

Medical text written October 2001 by Mr D Wilcox. Last updated January 2003 by Mr D Wilcox, Consultant Paediatric Urologist, Great Ormond Street Hospital, London, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

BEES (Bladder Exstrophy/Epispadias Support)

BEES Support Group
8 Burnbray Avenue
Burnage
Manchester M19 1DA
Tel: 0161 443 3174
e-mail: karen@bees-group.co.uk
Web: http://www.bees-group.co.uk

BEES is a National Registered Charity No. 1045218, established 1992. It offers support by telephone and letter, raising awareness about the condition and advice and information on incontinence. It publishes a bi-annual newsletter and has information available, details on request. Please send an SAE. Every two years BEES pays for families to attend a family weekend away at Centreparcs at various locations around the UK. This event is only offered to members. BEES is in touch with the families of 250 affected children and 100 professional workers.

Group details last updated June 2007.