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Genetic and Rare Diseases Information Center (GARD)

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Potter syndrome

Other Names for this Disease
  • Oligohydramnios sequence
  • Potter sequence
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Your Question

I have had three stillborns with Potter syndrome. I was told there is a link between Potter syndrome and Turner syndrome; is this true?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Potter syndrome?

Potter syndrome refers to the typical physical appearance and associated pulmonary hypoplasia (limited lung development) of a newborn as a direct result of kidney failure, oligohydramnios (lack of amniotic fluid) and compression while in the uterus. Features may include "Potter facies", which consists of a flattened nose, recessed chin, epicanthal folds, and low-set abnormal ears; features of Eagle-Barrett (prune belly) syndrome; ophthalmologic (eye) malformations; and heart defects. There are various causes, including bilateral renal agenesis, cystic kidney diseases, autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, early rupture of membranes, and other renal abnormalities. The underlying cause of the condition is often undetermined but is genetic in some cases, and the inheritance pattern depends on the specific genetic cause. Treatment, when possible, depends on the severity and nature of the abnormalities present.[1]
Last updated: 5/24/2011

What causes Potter syndrome?

A sequence of events causes the features of Potter syndrome. After approximately 16 weeks gestation, the amount of amniotic fluid present mainly depends on fetal urine production. In normal fetal development, the fetus continuously swallows amniotic fluid, which then gets reabsorbed by the GI tract and then reintroduced into the amniotic sac by the kidneys. Oligohydramnios (too little of amniotic fluid) occurs if the volume of amniotic fluid is less than normal for that period of gestation. This may be due to decreased urine production caused by bilateral renal agenesis, obstruction of the urinary tract, or, occasionally, prolonged rupture of membranes. The resulting oligohydramnios is the cause of the abnormalities seen in Potter syndrome. The mechanism of lung hypoplasia (underdevelopment) in this condition is not clear, but it is believed that adequate space for fetal movement and the movement of amniotic fluid into the fetal lungs is required for the normal development of lungs.[1]

In one study that looked at 80 cases of Potter syndrome, the authors stated that the abnormal renal findings leading to oligohydramnios were bilateral renal agenesis in 21.25%; cystic dysplasia in 47.5%; obstructive uropathy in 25%; and others in 5.25%.[2]
Last updated: 1/14/2011

Can Potter syndrome be inherited?

Potter syndrome itself is not inherited, because the name refers to a group of common features that can result from oligohydramnios, regardless of the primary cause of the oligohydramnios. In many individuals, the underlying cause of the renal failure/abnormality is undetermined. However, the primary cause is genetic and/or inherited in some cases. Genetic abnormalities which may cause developmental abnormalities leading to Potter syndrome may include:
Last updated: 1/14/2011

Is there a connection between Potter syndrome and Turner syndrome?

A thorough search of available literature currently yields no reports about a recognized connection between Potter syndrome and Turner syndrome. Renal malformations are a recognized feature of Turner syndrome, ocurring in 33%-70% of cases; renal agenesis, a known cause of Potter syndrome, has been reported in individuals with Turner syndrome.[4] However, no reports describing a direct link between the two conditions were found.
Last updated: 1/14/2011