Introduction

Potter’s Syndrome is a rare condition which may affect up to one in four thousand babies.¹ It can be life-threatening in some cases.¹ Sometimes it can be picked up by ultrasound testing before the baby is born, but in other circumstances, it is not diagnosed until after the child is born.¹ 

Potter’s syndrome

In Potter’s Syndrome, a foetus’s kidneys are either missing or do not grow as they should.¹ When a child is growing inside the womb, it drinks the amniotic fluid and urinates out more fluid.² If the child’s kidneys are not growing properly, the child cannot produce enough urine.² This causes a lack of amniotic fluid in the uterus (doctors call this oligohydramnios)² when a foetus is developing.³ This causes problems with the foetus’s lungs,¹ as well as changes to the development of the ears, limbs and face of the foetus.³

What causes Potter syndrome?

Potter’s Syndrome is usually inherited from one or both parents.² In some cases, it is caused by a spontaneous change in the genes (the information passed from parent to child).^4,1 

As Potter Syndrome is caused by problems with a foetus’s ability to urinate, problems with the child’s kidneys, bladder or urethra can all play a part in the development of Potter’s Syndrome. There are different kinds of Potter Syndrome that a foetus may have, depending on the problems that cause their urination problems.¹ These are listed below.

Classic Potter syndrome

In Classic Potter Syndrome, the foetus does not develop kidneys at all.¹ This kind of Potter Syndrome leads to the death of the foetus.¹

Type 1

This kind of Potter Syndrome is passed on from both parents.¹ It causes cysts on the kidneys, which means they cannot do their job as they usually would.¹

Type 2

The second type of Potter Syndrome happens when the kidneys do not develop normally (doctors call this “renal dysplasia).² This also affects how the kidneys work.²

Type 3

Type 3 is similar to type 1 because it is caused by cysts on the kidneys.¹ The difference is that the gene that causes the problem is inherited from only one parent, rather than both.¹

Type 4

This kind of Potter’s Syndrome happens when the foetus’s urethra (the tube that takes urine out of the body)⁵ is blocked.¹ 

Symptoms of Potter syndrome

Babies born with Potter Syndrome may show these symptoms:

• A small chin that does not stand out from the neck¹
• Small size¹
• A line below the bottom lip¹
• A large pupillary distance (wide-set eyes)¹
• Limbs that stay bent at the knees and elbows, and they struggle to straighten¹
• A nose that is flat to the face¹
• Short limbs¹
• Ears that are lower set than usual¹
• Epicanthal folds (skin flaps over the nasal corner of the eye)¹ 
• Heart problems¹
• Lung issues¹
• Eye problems¹
• Kidney issues¹

Diagnosis of Potter syndrome

There are several ways that Potter Syndrome can be diagnosed. These are listed below.

Ultrasound

Potter Syndrome is sometimes noticed by a patient’s medical team before birth using Ultrasound.¹ This can be done by ultrasound.¹

An ultrasound involves a probe that gives out sound waves.⁶ These waves bounce back from the body of the pregnant person and the foetus and can be read by the machine, which gives an image of the developing foetus.⁶ If the foetus’s kidneys are missing or not growing correctly, this can be detected by ultrasound.² 

Magnetic Resonance Imaging (MRI) scan

MRI scans use radio waves and magnets to create an image of the inside of the body.⁷ These can be used either before birth or afterwards to take images of the child’s internal organs to check for differences from what is considered normal.²

Genetic testing

The medical team may take a sample of blood from the child to test.¹ This will let them look for genetic changes that are known to cause Potter Syndrome.³ 

Urine testing

The urine of someone with Potter Syndrome is different from the urine of someone whose kidneys are working normally.² Due to this, a medical team may take a sample of a patient’s urine to send to a laboratory for testing to see if it contains signs that the patient has Potter Syndrome.²

Echocardiogram

An echocardiogram is a test used by doctors to check the heart.⁸ During an echocardiogram, small sensors are stuck to the skin of the patient’s chest.⁸ The healthcare worker touches a probe to the skin of the chest that gives off sound waves.⁸ These sound waves bounce back to the machine, which uses these echoes to make a picture of the inside of the chest.⁸

Syndromes associated with Potter syndrome

Fraser syndrome

Similar to Type 4 Potter Syndrome, people with Fraser Syndrome have changes to the urethra.⁹ They also experience problems with kidney development, like patients with Potter Syndrome do.⁹ Other symptoms include the eyelids being stuck together rather than separate, changes to the genitals, cleft lip and palate, fingers which are stuck together, trouble with the development of the nose and ears, changes to the wind pipe, and intellectual disability.⁹ This syndrome is very rare - fewer than five thousand people in all of America have Fraser Syndrome.⁹

Melnick-Fraser syndrome

People with Menick-Fraser syndrome have kidneys that either do not form correctly or do not grow at all.² The patient may also have dips just in front of the ears known as preauricular pits, swelling at the top of the neck, and changes to ear development.²

Mayer-Rokitansky-Kuster-Hauser syndrome

People with this developmental issue may not develop kidneys while they are growing in the womb.² There are other symptoms that can come with this syndrome, which are usually alterations to the reproductive organs. 

People who have this syndrome and are assigned female at birth will have a normal vulva (the external part of a woman’s genitals)¹⁰ and ovaries (the organs that produce eggs)¹¹ and one third of the vaginal canal, (the tube that links your cervix to your vulva)¹⁰ but they do not have the top two thirds of the vaginal canal, a cervix¹¹ or a uterus (the organ that holds a foetus as it grows).^11,12  

Multicystic renal dysplasia

This condition causes the kidneys to grow unusually (dysplasia), and also lets cysts grow on the developing kidneys.² This means that the kidneys struggle to do their job of cleaning the blood, and that the child will not make much urine.²

Ectopic kidney

Kidneys usually sit in a person’s torso, at the back of the body, just beneath the ribcage.¹³ In an ectopic kidney, the kidney is located somewhere else.¹³ Most people with ectopic kidneys do not have any problems, and are not aware that they have the condition.¹³ It can be picked up during an ultrasound while the child is still in the uterus.¹³

Polycystic kidney disease

Polycystic kidney disease causes many cysts to grow inside the person’s kidneys.¹⁴ If a foetus has this problem badly enough to affect the way their kidneys work, it can mean that they cannot produce enough urine, like patients with Potter Syndrome.²

Sirenomelia

Babies born with sirenomelia have their legs partly or completely fused together.¹⁵ This is usually fatal.¹⁵ As well as the changes to the lower limbs, the child may have abnormalities with the genitals and problems with urination that can lead to Potter Syndrome.²

Posterior urethral valves

This is a condition that affects people assigned male at birth.¹⁶ It causes a blockage just below the opening of a bladder, so that the child cannot wee.¹⁶ The changes to the urination can cause problems similar to Potter Syndrome.² 

Prune belly syndrome

The name of this syndrome comes from the appearance of patients who have it - the muscles of their belly do not form normally, meaning that the skin looks wrinkled like that of a prune.¹⁷ It usually affects people assigned male at birth.² The patient also usually has problems with changes to their kidneys, and, during puberty, the testicles do not descend.¹⁷

Conclusion

Potter Syndrome has several causes and also several other conditions that are linked to it. Potter’s Syndrome can cause death or lifelong health changes to people who have it. 

It is important to understand these conditions and the way they are linked to help with diagnosis and treatment.