How much do you know about congenital abnormalities?

A congenital abnormality is another name for a birth defect, meaning that it is present from birth. It is estimated that around 3-4% of all babies are born with an abnormality. Birth defects can occur in any part of the body and may lead to changes in the way that the body works; causing health problems. We will be focusing on some of the most common congenital abnormalities that affect the urinary system and genitalia. The cause of most congenital abnormalities is unknown however genetic and environmental exposures can be the cause of some conditions. There are a lot of different conditions and they will all differ depending on the severity of the condition.


Urologist deal with diseases that affect the male and female urinary system, which includes the kidneys, bladder, urethra and ureter. They also deal with problems that affect the male reproductive organs such as the penis, testes and prostate, as well as others.

If your child is born with a congenital condition that affects their urinary system or genitalia, then they will be referred to a paediatric urologist. Here are some of the most common conditions that are seen:

Exstrophy (this means turned inside out) is a congenital condition that lead to the tummy not forming properly and therefore leading to the bladder being exposed at birth. This condition occurs in around 1 out of 200,000 babies and is more common in male babies.

Posterior urethral valves this condition occur in only male babies. The flow of urine from the urethra is complete blocked or obstructed due to a membrane that develops. It is important that this condition is treated immediately as it can seriously damage the kidneys.

Vesicoureteral reflux is when urine flows back to the kidneys when the bladder is full, this is usually occurring because the ureter is abnormally connected to the bladder. This can lead to regular kidney infections if it is not treated.

Spina bifida almost always affects the functionality of the bladder, as the nerves that control the bladder have not developed properly. This means that the bladder may have difficulty storing urine and/or letting it out.

Cryptorchidism is a congenital abnormality that lead to one or both of the testes have failed to drop down and therefore do not sit in the scrotum. This condition affects around 30% of all premature male babies and only 4% of full-term male babies.

Hypospadias is when the opening of the urethra is on the underside of the penis rather than the end of the penis, this affect 1-8 babies out of every 1000 baby boys.

Epispadias is when the opening of the urethra is on upper side of the penis, this is similar to hypospadias. It occurs in around 1 out of every 120,00 male births.


This article is intended to inform and give insight but not treat, diagnose or replace the advice of a doctor. Always seek medical advice with any questions regarding a medical condition.

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