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.
Medical text written October 2001 by Mr D Wilcox, Consultant Paediatric Urologist, Great Ormond Street Hospital, London, UK. Last reviewed February 2010 by Mr Imran Mushtaq, Consultant Paediatric Urologist, Great Ormond Street Hospital, London, UK.
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.
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 12 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 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.
The diagnosis is usually made at birth, or increasingly prenatally, with the exception of female epispadias that may present with urinary incontinence.
Treatment in all cases this is usually by surgery details can be found in the background information under ‘symptoms’.
At present difficult but with increasing experience, prenatal diagnosis is possible.
There is no support group for bladder exstrophy in the UK. Families can use Contact’s freephone helpline for advice and information. You can also meet other families online in our closed Facebook group