Potter Syndrome

What is Potter syndrome?

Potter syndrome, also known as Potter sequence, is a rare condition that affects how a fetus develops in the uterus. The condition is the result of abnormal kidney growth and function, which affects how much amniotic fluid surrounds the baby during pregnancy. If the absence of kidneys in your baby’s body causes their diagnosis, the condition is fatal. Children who experience mild symptoms or who experience low amniotic fluid during pregnancy (oligohydramnios tetrad) may survive, but they can develop chronic lung and kidney conditions as they grow.

Who does Potter syndrome affect?

Potter syndrome can affect any baby since the condition is the result of a lack of amniotic fluid. Some studies found that the condition is more common in male infants.

Do babies inherit Potter syndrome?

Babies can inherit some causes of Potter syndrome, but Potter syndrome isn’t a genetic condition. Inherited causes of Potter syndrome include:

• Polycystic kidney disease: A baby can inherit this condition from one parent (autosomal dominant) or both parents (autosomal recessive) during conception.
• Renal agenesis: A baby can inherit a genetic mutation of the FGF20 or GREB1L gene that causes problems with kidney development. Renal agenesis can be either autosomal dominant or recessive, where one or two copies of the mutated gene need to pass to the child during conception for the child to inherit the condition.
• Sporadic: Some genetic changes that cause Potter syndrome occur randomly, without any history of the genetic condition in a person’s family.

How common is Potter syndrome?

Potter syndrome is rare and affects an estimated 1 in 4,000 to 10,000 births.

How does Potter syndrome affect my baby’s body?

Potter syndrome affects how your baby’s internal organs develop and function, especially the kidneys. The kidneys are important to remove waste and fluid from your baby’s body. The kidneys create urine (pee), which recycles amniotic fluid in the uterus during fetal development. If your baby’s kidneys aren’t functioning, your baby won’t have enough amniotic fluid surrounding them in your uterus to provide a protective cushion. The lack of amniotic fluid leads to symptoms that affect how their organs and body grow. If your baby’s organs aren’t able to grow completely, they won’t be able to do their job, which leads to life-threatening symptoms.

What are the symptoms of Potter syndrome?

Symptoms of Potter syndrome affect each newborn differently and range in severity. Symptoms can affect the length of your pregnancy, which could cause your baby to be born prematurely.

Lack of amniotic fluid

During pregnancy, a clear to yellow fluid (amniotic fluid) surrounds the fetus. This fluid provides protection and space for the fetus to grow by creating a barrier between the uterine wall and the fetus. Fetuses with Potter syndrome don’t have enough amniotic fluid surrounding them and the pressure from the uterine wall affects how the fetus grows.

Facial and physical characteristics

Pressure from the lack of amniotic fluid can affect how parts of the fetus develop. This causes distinct facial characteristics, which are called “Potter facies,” including:

• Chin that doesn’t grow forward (recessed chin).
• Crease below the lower lip.
• Eyes spaced far apart.
• Flat bridge of the nose.
• Low-set ears with a small amount of cartilage.
• Skin folds at the corner of the eyes.

The pressure can also affect the growth of other parts of the fetus including:

• Short arms and legs.
• Contractures or difficulty fully extending joints.
• Small for gestational age.

Underdeveloped or malformed organs

Symptoms that affect the organs can be life-threatening. Since Potter syndrome targets fetal development, the internal organs don’t have the instructions or the time to form completely. Symptoms of Potter syndrome that affect the organs include:

• Congenital heart conditions.
• Eye conditions (cataracts, displaced lenses).
• Kidney conditions (chronic kidney failure, agenesis, polycystic kidney disease).
• Lung conditions (chronic lung disease, respiratory distress).

The abnormal development of the kidneys can affect how much urine the newborn can produce. This is a symptom healthcare providers look for to diagnose Potter syndrome.

What causes Potter syndrome?

Several factors could cause Potter syndrome including:

• Underdeveloped or missing kidneys.
• Polycystic kidney disease.
• Prune belly syndrome (Eagle-Barrett syndrome).
• Blockages of the urinary tract.
• Leaking amniotic fluid caused by ruptured membranes.
• Unmanaged medical conditions in the birthing parent, like Type 1 diabetes.

Symptoms, especially symptoms that affect the kidneys, are the result of too little amniotic fluid surrounding the baby in the uterus.

What causes too little amniotic fluid in the uterus?

Abnormal development of the kidneys causes too little amniotic fluid in the uterus.

During pregnancy, your baby floats in a clear to yellow liquid called amniotic fluid. This fluid protects your baby during your pregnancy and allows it to grow. Early during your pregnancy, amniotic fluid is made up of water and nutrients from your body. Your baby drinks the amniotic fluid during your pregnancy. Between 16 and 20 weeks, your baby contributes to the amniotic fluid by peeing (urination). Your baby recycles the fluid by drinking it and releasing it.

If your baby has Potter syndrome, the part of their body that creates pee (the kidneys) didn’t grow properly, is absent or isn’t functioning. Since your baby is unable to urinate, they aren’t able to contribute to the amount of amniotic fluid that protects them, which causes there to be too little amniotic fluid in the uterus.

What are the different types of Potter syndrome?

Providers identify different types of Potter syndrome based on symptoms that affect the kidneys including:

• Classic Potter syndrome: Classic Potter syndrome is the most common and is the result of the baby being born without both kidneys.
• Potter syndrome type I: Symptoms of type I occur because of polycystic kidney disease, where cysts form on the kidneys, caused by the trait passing from both parents (autosomal recessive).
• Potter syndrome type II: Symptoms of type II are the result of kidney growth abnormalities that occur in the uterus during pregnancy.
• Potter syndrome type III: Symptoms of type III occur because of polycystic kidney disease similar to type I, but caused by the trait being passed from only one parent (autosomal dominant).
• Potter syndrome type IV: Symptoms of type IV are the result of a blockage of the urinary tract caused by abnormal fetal development in the uterus (obstructive uropathy).

How is Potter syndrome diagnosed?

Diagnosis of Potter syndrome could occur during pregnancy with a prenatal exam. A sign of the condition during pregnancy is a lack of amniotic fluid surrounding the fetus, which your provider will look for during an ultrasound along with contractures or physical symptoms of the condition.

If a diagnosis isn’t made before the baby is born, your provider will give your child a physical exam, looking for symptoms of the condition including:

• Minimal urine production.
• Facial characteristics.
• Difficulty breathing.

What tests diagnose Potter syndrome?

Your provider will offer several tests to confirm a diagnosis including:

• A genetic blood test to identify the gene responsible for symptoms.
• Imaging tests like an X-ray, MRI or ultrasound of your child’s lungs, kidneys and urinary tract.
• Blood or urine tests to check electrolyte and enzyme levels.
• An echocardiogram to look for heart symptoms.

How is Potter syndrome treated?

Potter syndrome treatment depends on the severity of lung and heart complications (pulmonary hypoplasia) associated with the condition that affects your child. It also depends on the options available to support your child’s kidney (renal) function.

Your growing fetus needs to be surrounded by amniotic fluid for sufficient lung growth during your pregnancy. If your baby’s chest is constrained for a prolonged period of fetal development, there may not be enough lung tissue to sustain life after birth. A complete lack of kidney function is also very challenging to treat in a newborn. In some cases, neonatal palliative care measures that limit intensive care interventions and instead focus on the goals of infant-parental bonding and infant comfort are a treatment option.

If your baby does survive birth, treatment focuses on preventing life-threatening symptoms that could include:

• Using breathing assistance devices (ventilator).
• Supportive medicine to help with lung function.
• Surgery to fix or remove the urinary tract blockage.
• Surgery to improve feeding with IV nutrition therapy, nasogastric tube or a feeding tube.
• Dialysis to remove blood toxins caused by kidney abnormalities. If dialysis isn’t successful after a couple of years of treatment, your provider might recommend a kidney transplant.

Depending on the timeline of your baby’s diagnosis, treatment can begin during pregnancy. You might qualify for trials like amnioinfusion to add fluid into your amniotic cavity to make up for the lack of fluid surrounding your baby. This type of treatment works best before 22 weeks of pregnancy.

How can I prevent Potter syndrome?

There is no way to prevent Potter syndrome.

What can I expect if my child has Potter syndrome?

There is no cure for Potter syndrome. An early diagnosis, often during pregnancy, helps your provider plan for the safest delivery of your baby along with treatment to help them survive after they’re born.

Symptoms of Potter syndrome are life-threatening. If your baby’s lungs and kidneys aren’t affected by severe symptoms, your baby will have a more positive prognosis.

Since treatment begins as soon as your baby is born, not every procedure will be successful and they may face several surgeries early in their life.

What is the life expectancy for a baby diagnosed with Potter syndrome?

Babies may have a short life expectancy with a Potter syndrome diagnosis. Each case is unique and varies based on the symptoms. If symptoms are severe and affect the development and function of major organs like the heart, lungs and kidneys, the outlook is poor and most babies won’t survive their first few days of life. Mild cases with less severe symptoms that affect their organs lead to an improved life expectancy.

Your provider will discuss the risks of your baby’s diagnosis and offer treatment to prolong their life. Your provider might recommend palliative care, grief or bereavement counseling if your child’s diagnosis is severe to help you cope with a difficult loss of a loved one.

When should I see my healthcare provider?

If you notice any changes during your pregnancy, visit your healthcare provider, especially if your baby was active and suddenly stops moving. Your baby might arrive earlier than expected, so it’s important to stay up to date on your prenatal exams with your provider to prepare for the birth of your baby.

What questions should I ask my doctor?

• What is the underlying reason for my baby’s diagnosis?
• Does my child need surgery after they’re born?
• What are the side effects of the treatment you recommended?
• What is the safest way to deliver my baby diagnosed with Potter syndrome?
• What can be done to help my baby survive?

A note from Cleveland Clinic

Coping with the news that your child might not survive due to a life-threatening diagnosis can be devastating and difficult to navigate. Your provider will work closely with you during your baby’s diagnosis to make sure they’re safe and receive immediate treatment to alleviate their symptoms after they’re born. While most babies with Potter syndrome won’t survive, it’s important to take care of yourself during this difficult diagnosis. Surround yourself with support from friends and family. Many families find grief and bereavement counseling comforting after a loss of a loved one.